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Goran Brajuskovic | University of Belgrade - Academia.edu

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data-toggle="tab" href="#papers" role="tab" title="Papers"><span>114</span>&nbsp;<span class="ds2-5-body-sm-bold">Papers</span></a></li><li class="nav-chip" role="presentation"><a class="js-profile-docs-nav-section u-textTruncate" data-click-track="profile-works-tab" data-section-name="Books" data-toggle="tab" href="#books" role="tab" title="Books"><span>1</span>&nbsp;<span class="ds2-5-body-sm-bold">Books</span></a></li></ul></div><div class="divider ds-divider-16" style="margin: 0px;"></div><div class="documents-container backbone-social-profile-documents" style="width: 100%;"><div class="u-taCenter"></div><div class="profile--tab_content_container js-tab-pane tab-pane active" id="all"><div class="profile--tab_heading_container js-section-heading" data-section="Papers" id="Papers"><h3 class="profile--tab_heading_container">Papers by Goran Brajuskovic</h3></div><div class="js-work-strip profile--work_container" data-work-id="119272518"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272518/Association_of_PRMT6_PEX10_and_SOX5_genetic_variants_with_idiopathic_male_infertility_Evidence_from_North_Macedonian_population_and_an_updated_meta_analysis"><img alt="Research paper thumbnail of Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis" class="work-thumbnail" src="https://attachments.academia-assets.com/114681123/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272518/Association_of_PRMT6_PEX10_and_SOX5_genetic_variants_with_idiopathic_male_infertility_Evidence_from_North_Macedonian_population_and_an_updated_meta_analysis">Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis</a></div><div class="wp-workCard_item"><span>Genetika</span><span>, 2023</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="a614264cc49ceb22e4520bc215346a7f" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681123,&quot;asset_id&quot;:119272518,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681123/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272517"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272517/Genetic_basis_of_prostate_cancer_Association_studies"><img alt="Research paper thumbnail of Genetic basis of prostate cancer: Association studies" class="work-thumbnail" src="https://attachments.academia-assets.com/114681118/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272517/Genetic_basis_of_prostate_cancer_Association_studies">Genetic basis of prostate cancer: Association studies</a></div><div class="wp-workCard_item"><span>Zenodo (CERN European Organization for Nuclear Research)</span><span>, Jul 19, 2017</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="c15c5b332e8249c215a86c21b8bd48bb" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681118,&quot;asset_id&quot;:119272517,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681118/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272517"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272517"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272517; 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This paper reviews the results of previous work of the study group PROSTATSERBIA. In the candidate gene association study at the beginning of our research, we tested the association between several single nucleotide polymorphisms (SNPs) in the NOS3 gene and PCa risk and/or progression. In a population-based case-control study, we explored the possible association between PCa risk and seven SNPs identified by genome-wide association analyses (GWASs) in two chromosomal regions (8q24 and 17q12). 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272516"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272516/_In_vivo_study_of_spontaneous_and_therapy_induced_apoptosis_in_patients_with_chronic_lymphocytic_leukemia_treated_with_chlorambucil_"><img alt="Research paper thumbnail of [In vivo study of spontaneous and therapy-induced apoptosis in patients with chronic lymphocytic leukemia treated with chlorambucil]" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272516/_In_vivo_study_of_spontaneous_and_therapy_induced_apoptosis_in_patients_with_chronic_lymphocytic_leukemia_treated_with_chlorambucil_">[In vivo study of spontaneous and therapy-induced apoptosis in patients with chronic lymphocytic leukemia treated with chlorambucil]</a></div><div class="wp-workCard_item"><span>PubMed</span><span>, Oct 21, 1999</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The efficiency of Chlorambucil in the induction of apoptosis was investigated in the study, and m...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The efficiency of Chlorambucil in the induction of apoptosis was investigated in the study, and measurable apoptosis parameters were compared to the other prognostic factors with the aim of possible prediction of clinical response to the therapy in the patients with CD5 + B-cell chronic lymphocytic leukemia (B-CLL). Seven newly diagnosed patients, initially treated with daily high-doses of Chlorambucil (HD-CLB) were analyzed. Quantitative analysis of apoptosis parameters on semi-fine sections obtained from peripheral blood was performed prior and during the first five days of therapy. The level of spontaneous apoptosis (SA) was determined, as well as the maximal response by apoptosis (MAR), and the time needed to establish maximal response by apoptosis (TMAR), respectively. The results revealed that the level of SA in the studied group of patients was 11.39%-20.50%. In three patients with achieved criteria for complete remission (CR) was observed high level of SA, TMAR 2-4 days and MAR 23.42-26.36%, respectively. All patients with CR were with negative LDT, non-diffuse involvement of bone marrow and clinical stage B. Criteria for partial remission (PR) were achieved in 4 patients. Within this group, all three measurable parameters of apoptosis could have been determined in only one patient, while in the rest was noticed the increased percentage of apoptotic cells on the last day of follow-up. In all patients was observed negative LDT, diffuse bone marrow involvement, and 2 out of 4 patients had CLPL of cytomorphological type and clinical stage B. By comparing the obtained values of measurable apoptotic parameters with the clinical response to the applied therapy with HD-CLB, it is possible to divide our patients into two groups: patients who have achieved CR have the highest percentage of cells dying due to the therapy-induced apoptosis, as well as the higher values of measurable parameters compared to the certain parameters of the patients with the criteria for PR. Our preliminary results of therapeutic response to the apoptosis might be useful for the timely decision upon the duration of therapy and change of modality of treatment for every patient during the follow-up period.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272516"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272516"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272516; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272516]").text(description); $(".js-view-count[data-work-id=119272516]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272516; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272516']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272516, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=119272516]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272516,"title":"[In vivo study of spontaneous and therapy-induced apoptosis in patients with chronic lymphocytic leukemia treated with chlorambucil]","translated_title":"","metadata":{"abstract":"The efficiency of Chlorambucil in the induction of apoptosis was investigated in the study, and measurable apoptosis parameters were compared to the other prognostic factors with the aim of possible prediction of clinical response to the therapy in the patients with CD5 + B-cell chronic lymphocytic leukemia (B-CLL). Seven newly diagnosed patients, initially treated with daily high-doses of Chlorambucil (HD-CLB) were analyzed. Quantitative analysis of apoptosis parameters on semi-fine sections obtained from peripheral blood was performed prior and during the first five days of therapy. The level of spontaneous apoptosis (SA) was determined, as well as the maximal response by apoptosis (MAR), and the time needed to establish maximal response by apoptosis (TMAR), respectively. The results revealed that the level of SA in the studied group of patients was 11.39%-20.50%. In three patients with achieved criteria for complete remission (CR) was observed high level of SA, TMAR 2-4 days and MAR 23.42-26.36%, respectively. All patients with CR were with negative LDT, non-diffuse involvement of bone marrow and clinical stage B. Criteria for partial remission (PR) were achieved in 4 patients. Within this group, all three measurable parameters of apoptosis could have been determined in only one patient, while in the rest was noticed the increased percentage of apoptotic cells on the last day of follow-up. In all patients was observed negative LDT, diffuse bone marrow involvement, and 2 out of 4 patients had CLPL of cytomorphological type and clinical stage B. By comparing the obtained values of measurable apoptotic parameters with the clinical response to the applied therapy with HD-CLB, it is possible to divide our patients into two groups: patients who have achieved CR have the highest percentage of cells dying due to the therapy-induced apoptosis, as well as the higher values of measurable parameters compared to the certain parameters of the patients with the criteria for PR. Our preliminary results of therapeutic response to the apoptosis might be useful for the timely decision upon the duration of therapy and change of modality of treatment for every patient during the follow-up period.","publication_date":{"day":21,"month":10,"year":1999,"errors":{}},"publication_name":"PubMed"},"translated_abstract":"The efficiency of Chlorambucil in the induction of apoptosis was investigated in the study, and measurable apoptosis parameters were compared to the other prognostic factors with the aim of possible prediction of clinical response to the therapy in the patients with CD5 + B-cell chronic lymphocytic leukemia (B-CLL). Seven newly diagnosed patients, initially treated with daily high-doses of Chlorambucil (HD-CLB) were analyzed. Quantitative analysis of apoptosis parameters on semi-fine sections obtained from peripheral blood was performed prior and during the first five days of therapy. The level of spontaneous apoptosis (SA) was determined, as well as the maximal response by apoptosis (MAR), and the time needed to establish maximal response by apoptosis (TMAR), respectively. The results revealed that the level of SA in the studied group of patients was 11.39%-20.50%. In three patients with achieved criteria for complete remission (CR) was observed high level of SA, TMAR 2-4 days and MAR 23.42-26.36%, respectively. All patients with CR were with negative LDT, non-diffuse involvement of bone marrow and clinical stage B. Criteria for partial remission (PR) were achieved in 4 patients. Within this group, all three measurable parameters of apoptosis could have been determined in only one patient, while in the rest was noticed the increased percentage of apoptotic cells on the last day of follow-up. In all patients was observed negative LDT, diffuse bone marrow involvement, and 2 out of 4 patients had CLPL of cytomorphological type and clinical stage B. By comparing the obtained values of measurable apoptotic parameters with the clinical response to the applied therapy with HD-CLB, it is possible to divide our patients into two groups: patients who have achieved CR have the highest percentage of cells dying due to the therapy-induced apoptosis, as well as the higher values of measurable parameters compared to the certain parameters of the patients with the criteria for PR. Our preliminary results of therapeutic response to the apoptosis might be useful for the timely decision upon the duration of therapy and change of modality of treatment for every patient during the follow-up period.","internal_url":"https://www.academia.edu/119272516/_In_vivo_study_of_spontaneous_and_therapy_induced_apoptosis_in_patients_with_chronic_lymphocytic_leukemia_treated_with_chlorambucil_","translated_internal_url":"","created_at":"2024-05-18T00:53:25.231-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"_In_vivo_study_of_spontaneous_and_therapy_induced_apoptosis_in_patients_with_chronic_lymphocytic_leukemia_treated_with_chlorambucil_","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[],"research_interests":[{"id":3274,"name":"Gastroenterology","url":"https://www.academia.edu/Documents/in/Gastroenterology"},{"id":14109,"name":"Leukemia","url":"https://www.academia.edu/Documents/in/Leukemia"},{"id":24731,"name":"Apoptosis","url":"https://www.academia.edu/Documents/in/Apoptosis"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":65390,"name":"Internal Medicine","url":"https://www.academia.edu/Documents/in/Internal_Medicine"},{"id":82976,"name":"Chronic Lymphocytic Leukemia","url":"https://www.academia.edu/Documents/in/Chronic_Lymphocytic_Leukemia"},{"id":98939,"name":"Pubmed","url":"https://www.academia.edu/Documents/in/Pubmed"},{"id":159239,"name":"Bone marrow","url":"https://www.academia.edu/Documents/in/Bone_marrow"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":489727,"name":"Prognosis","url":"https://www.academia.edu/Documents/in/Prognosis"},{"id":2058640,"name":"Chlorambucil","url":"https://www.academia.edu/Documents/in/Chlorambucil"}],"urls":[{"id":42067638,"url":"https://pubmed.ncbi.nlm.nih.gov/10528523"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272515"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272515/Association_between_genetic_variants_in_DICER1_and_cancer_risk_An_updated_meta_analysis"><img alt="Research paper thumbnail of Association between genetic variants in DICER1 and cancer risk: An updated meta-analysis" class="work-thumbnail" src="https://attachments.academia-assets.com/114681178/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272515/Association_between_genetic_variants_in_DICER1_and_cancer_risk_An_updated_meta_analysis">Association between genetic variants in DICER1 and cancer risk: An updated meta-analysis</a></div><div class="wp-workCard_item"><span>Gene</span><span>, 2021</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="ce23a19636ca439f7d1ff18be4d4086d" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681178,&quot;asset_id&quot;:119272515,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681178/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272515"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272515"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272515; 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Therefore, as one of the crucial components of the machinery involved in the biogenesis of both siRNAs and microRNA molecules, DICER was recognized as one of the candidates for the research in the field of carcinogenesis. Due to their potential functional properties, several genetic variants located within DICER1 gene were analyzed for their possible association with the susceptibility to cancer through case-control studies. In order to elucidate their effect on the overall cancer risk, we conducted an updated meta-analysis of all eligible association studies. The publications were selected based on PubMed database search, while OpenMeta-analyst and MetaGenyo software were used for quantitative data synthesis. Statistically significant results were found for the association of rs1057035 with the overall cancer risk under multiple genetic models (P CT vs. TT \u003c 0.001, OR CT vs. TT = 0.870, 95% CI = 0.812-0.933; P allelic = 0.009, OR allelic = 0.896, 95% CI = 0.825-0.973; P dom \u003c 0.001, OR dom = 0.874, 95% CI = 0.817-0.934; P overdom = 0.004, OR overdom = 0.858, 95% CI = 0.773-0.953). Other selected genetic variants within DICER1, rs13078, rs1209904 and rs3742330, did not show the association with the overall susceptibility to malignant diseases. We conclude that rs1057035 may represent a potential biomarker associated with the risk of developing cancer, which requires a confirmation in a larger set of studies.","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Gene","grobid_abstract_attachment_id":114681178},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272515/Association_between_genetic_variants_in_DICER1_and_cancer_risk_An_updated_meta_analysis","translated_internal_url":"","created_at":"2024-05-18T00:53:24.806-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681178,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681178/thumbnails/1.jpg","file_name":"j.gene.2020.14513220240518-1-no9xw8.pdf","download_url":"https://www.academia.edu/attachments/114681178/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_between_genetic_variants_in.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681178/j.gene.2020.14513220240518-1-no9xw8-libre.pdf?1716022248=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_between_genetic_variants_in.pdf\u0026Expires=1732732854\u0026Signature=QGtuGHLePXtO-vju66o-1f8IzeNfGWxXjuyAOQxVA8JmWVJY96k3ZwB97kuWjC3ourFR~NMUh3UdhwngYx7H3i4ljZ~aZZo32bwOPHuCaUd4pavAt30mbIygVWqzT39D6MbgtDBdhv~gO0JICA4m3nygKskIob5DZbzyyT3RE3jiaSM-lQvd0Ks6BGEacDidYnn26iTJHWScUO-Kw0RMtdWw7~dI5m~hcQoc5Bw2g74eTooqjzNmpqbVU4qY1FdJymkCxWRHmjH90wUCKGHqh-YTx5Mic8SRD9PLI8TU6KN75oKntbr2zEbsINJa7yM92fWGI74PKQO7kDWJtSTE6A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Association_between_genetic_variants_in_DICER1_and_cancer_risk_An_updated_meta_analysis","translated_slug":"","page_count":13,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681178,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681178/thumbnails/1.jpg","file_name":"j.gene.2020.14513220240518-1-no9xw8.pdf","download_url":"https://www.academia.edu/attachments/114681178/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_between_genetic_variants_in.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681178/j.gene.2020.14513220240518-1-no9xw8-libre.pdf?1716022248=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_between_genetic_variants_in.pdf\u0026Expires=1732732854\u0026Signature=QGtuGHLePXtO-vju66o-1f8IzeNfGWxXjuyAOQxVA8JmWVJY96k3ZwB97kuWjC3ourFR~NMUh3UdhwngYx7H3i4ljZ~aZZo32bwOPHuCaUd4pavAt30mbIygVWqzT39D6MbgtDBdhv~gO0JICA4m3nygKskIob5DZbzyyT3RE3jiaSM-lQvd0Ks6BGEacDidYnn26iTJHWScUO-Kw0RMtdWw7~dI5m~hcQoc5Bw2g74eTooqjzNmpqbVU4qY1FdJymkCxWRHmjH90wUCKGHqh-YTx5Mic8SRD9PLI8TU6KN75oKntbr2zEbsINJa7yM92fWGI74PKQO7kDWJtSTE6A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":5490,"name":"MicroRNA","url":"https://www.academia.edu/Documents/in/MicroRNA"},{"id":6021,"name":"Cancer","url":"https://www.academia.edu/Documents/in/Cancer"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":218206,"name":"Meta Analysis","url":"https://www.academia.edu/Documents/in/Meta_Analysis"},{"id":340262,"name":"Carcinogenesis","url":"https://www.academia.edu/Documents/in/Carcinogenesis"}],"urls":[{"id":42067637,"url":"https://doi.org/10.1016/j.gene.2020.145132"}]}, dispatcherData: dispatcherData }); 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This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.","publication_date":{"day":1,"month":5,"year":2020,"errors":{}},"publication_name":"Pathology Research and Practice","grobid_abstract_attachment_id":114681172},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272513/Association_between_genetic_variants_in_genes_encoding_Argonaute_proteins_and_cancer_risk_A_meta_analysis","translated_internal_url":"","created_at":"2024-05-18T00:53:24.243-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681172,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681172/thumbnails/1.jpg","file_name":"j.prp.2020.15290620240518-1-v4qct1.pdf","download_url":"https://www.academia.edu/attachments/114681172/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_between_genetic_variants_in.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681172/j.prp.2020.15290620240518-1-v4qct1-libre.pdf?1716022256=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_between_genetic_variants_in.pdf\u0026Expires=1732732854\u0026Signature=cjy14xTrmkZyeIPS1RmaNNiR-pgy-n47hUEnX2RhSQ2V6XIz65bdiOIzHM65ZyCgAGGUfnI914rVcRk5yrfHcVe3vIIx5NdGchVPpBpXBysHd2rodRcmefBZM4K9k-vXpccZyHg4aDPuteY48o-idfey2HguknKCMk05igZEOMT4gmDx306WJwosdQccNgQLqxgErsHJiwKwtMc6Kdvm9xEmi6~6i41ADjmChTn1Rg1J6f1jsxRczdS~oB13OLDx55iMmiaK5uOEg--AflDoN9i3UN9F0LOQqsBKHQ3JSgKgmAnRY-vPWwgcrBkkwkZ1qcChlz-v3t2UqHI-~nLGHA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Association_between_genetic_variants_in_genes_encoding_Argonaute_proteins_and_cancer_risk_A_meta_analysis","translated_slug":"","page_count":32,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681172,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681172/thumbnails/1.jpg","file_name":"j.prp.2020.15290620240518-1-v4qct1.pdf","download_url":"https://www.academia.edu/attachments/114681172/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_between_genetic_variants_in.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681172/j.prp.2020.15290620240518-1-v4qct1-libre.pdf?1716022256=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_between_genetic_variants_in.pdf\u0026Expires=1732732854\u0026Signature=cjy14xTrmkZyeIPS1RmaNNiR-pgy-n47hUEnX2RhSQ2V6XIz65bdiOIzHM65ZyCgAGGUfnI914rVcRk5yrfHcVe3vIIx5NdGchVPpBpXBysHd2rodRcmefBZM4K9k-vXpccZyHg4aDPuteY48o-idfey2HguknKCMk05igZEOMT4gmDx306WJwosdQccNgQLqxgErsHJiwKwtMc6Kdvm9xEmi6~6i41ADjmChTn1Rg1J6f1jsxRczdS~oB13OLDx55iMmiaK5uOEg--AflDoN9i3UN9F0LOQqsBKHQ3JSgKgmAnRY-vPWwgcrBkkwkZ1qcChlz-v3t2UqHI-~nLGHA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":6021,"name":"Cancer","url":"https://www.academia.edu/Documents/in/Cancer"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":218206,"name":"Meta Analysis","url":"https://www.academia.edu/Documents/in/Meta_Analysis"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":340262,"name":"Carcinogenesis","url":"https://www.academia.edu/Documents/in/Carcinogenesis"}],"urls":[{"id":42067635,"url":"https://doi.org/10.1016/j.prp.2020.152906"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272512"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272512/Analysis_of_association_of_potentially_functional_genetic_variants_within_genes_encoding_miR_34b_c_miR_378_and_miR_143_145_with_prostate_cancer_in_Serbian_population"><img alt="Research paper thumbnail of Analysis of association of potentially functional genetic variants within genes encoding miR-34b/c, miR-378 and miR-143/145 with prostate cancer in Serbian population" class="work-thumbnail" src="https://attachments.academia-assets.com/114681173/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272512/Analysis_of_association_of_potentially_functional_genetic_variants_within_genes_encoding_miR_34b_c_miR_378_and_miR_143_145_with_prostate_cancer_in_Serbian_population">Analysis of association of potentially functional genetic variants within genes encoding miR-34b/c, miR-378 and miR-143/145 with prostate cancer in Serbian population</a></div><div class="wp-workCard_item"><span>PubMed</span><span>, 2019</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">MiRNA-associated genetic variants occurring in regulatory regions can affect the efficiency of tr...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">MiRNA-associated genetic variants occurring in regulatory regions can affect the efficiency of transcription and potentially modify pri-miRNA or pre-miRNA processing. Since miRNA-based mechanisms are shown to be involved in the pathogenesis of prostate cancer (PCa), the aim of the present study was to evaluate the effect of rs4938723, rs1076064 and rs4705343 occurring in regulatory regions of miR-34b/c, miR-143/145 and miR-378, respectively, on PCa risk and progression in Serbian population. We examined a total of 1060 subjects, of which 350 were patients with PCa, 354 were patients with benign prostatic hyperplasia (BPH), while 356 healthy volunteers were included in the control group. Genotyping of rs4938723, rs1076064 and rs4705343 was performed by using Taqman® SNP Genotyping Assays. Allele C of rs4705342 was found to increase the risk of PCa (P=0.031 for codominant model, P=0.0088 for recessive model). Rs1076064 minor allele G was found to associate with serum PSA score, as well as with PCa T category and disease aggressiveness. For rs4938723 minor allele C was shown to be associated with the lower PCa T category (Pdom=0.0046; OR=0.36, 95 % CI 0.17-0.76) in T2 vs. T1 comparison. Rs4705342 was identified as PCa susceptibility variant in Serbian population, while for rs1076064 and rs4938723 association with PCa progression parameters was found.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="1e8eb140e7f67bd41005c04b9b347f93" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681173,&quot;asset_id&quot;:119272512,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681173/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272512"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272512"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272512; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272512]").text(description); $(".js-view-count[data-work-id=119272512]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272512; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272512']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272512, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "1e8eb140e7f67bd41005c04b9b347f93" } } $('.js-work-strip[data-work-id=119272512]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272512,"title":"Analysis of association of potentially functional genetic variants within genes encoding miR-34b/c, miR-378 and miR-143/145 with prostate cancer in Serbian population","translated_title":"","metadata":{"abstract":"MiRNA-associated genetic variants occurring in regulatory regions can affect the efficiency of transcription and potentially modify pri-miRNA or pre-miRNA processing. Since miRNA-based mechanisms are shown to be involved in the pathogenesis of prostate cancer (PCa), the aim of the present study was to evaluate the effect of rs4938723, rs1076064 and rs4705343 occurring in regulatory regions of miR-34b/c, miR-143/145 and miR-378, respectively, on PCa risk and progression in Serbian population. We examined a total of 1060 subjects, of which 350 were patients with PCa, 354 were patients with benign prostatic hyperplasia (BPH), while 356 healthy volunteers were included in the control group. Genotyping of rs4938723, rs1076064 and rs4705343 was performed by using Taqman® SNP Genotyping Assays. Allele C of rs4705342 was found to increase the risk of PCa (P=0.031 for codominant model, P=0.0088 for recessive model). Rs1076064 minor allele G was found to associate with serum PSA score, as well as with PCa T category and disease aggressiveness. For rs4938723 minor allele C was shown to be associated with the lower PCa T category (Pdom=0.0046; OR=0.36, 95 % CI 0.17-0.76) in T2 vs. T1 comparison. Rs4705342 was identified as PCa susceptibility variant in Serbian population, while for rs1076064 and rs4938723 association with PCa progression parameters was found.","publication_date":{"day":null,"month":null,"year":2019,"errors":{}},"publication_name":"PubMed"},"translated_abstract":"MiRNA-associated genetic variants occurring in regulatory regions can affect the efficiency of transcription and potentially modify pri-miRNA or pre-miRNA processing. Since miRNA-based mechanisms are shown to be involved in the pathogenesis of prostate cancer (PCa), the aim of the present study was to evaluate the effect of rs4938723, rs1076064 and rs4705343 occurring in regulatory regions of miR-34b/c, miR-143/145 and miR-378, respectively, on PCa risk and progression in Serbian population. We examined a total of 1060 subjects, of which 350 were patients with PCa, 354 were patients with benign prostatic hyperplasia (BPH), while 356 healthy volunteers were included in the control group. Genotyping of rs4938723, rs1076064 and rs4705343 was performed by using Taqman® SNP Genotyping Assays. Allele C of rs4705342 was found to increase the risk of PCa (P=0.031 for codominant model, P=0.0088 for recessive model). Rs1076064 minor allele G was found to associate with serum PSA score, as well as with PCa T category and disease aggressiveness. For rs4938723 minor allele C was shown to be associated with the lower PCa T category (Pdom=0.0046; OR=0.36, 95 % CI 0.17-0.76) in T2 vs. T1 comparison. Rs4705342 was identified as PCa susceptibility variant in Serbian population, while for rs1076064 and rs4938723 association with PCa progression parameters was found.","internal_url":"https://www.academia.edu/119272512/Analysis_of_association_of_potentially_functional_genetic_variants_within_genes_encoding_miR_34b_c_miR_378_and_miR_143_145_with_prostate_cancer_in_Serbian_population","translated_internal_url":"","created_at":"2024-05-18T00:53:23.820-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681173,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681173/thumbnails/1.jpg","file_name":"Brajuskovic_16072019_proof.pdf","download_url":"https://www.academia.edu/attachments/114681173/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Analysis_of_association_of_potentially_f.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681173/Brajuskovic_16072019_proof-libre.pdf?1716022245=\u0026response-content-disposition=attachment%3B+filename%3DAnalysis_of_association_of_potentially_f.pdf\u0026Expires=1732732854\u0026Signature=Kd2a77WaWh8pDekBKMK2I0H19wehL0PavIjfUfroNLSekzXMEDSrD~HixL5kMqwCsPBSprxpwEBP~GudJu-9o0-AifTS786qwZZPYnB6Y-UFWtNIq3wIeFEnq15rW35T~vMZWWofk7P~gqKszdjznA3CfJEslaDBJqxv4Xgu~M3pgYeI~hxGXG6PbcfbEmt6tKxucJlLa05DyQlsmg9D4RV5X~pla7eYhR3Zne-eb1U4pD2iSyFGAfzpEhK4vxRgCzfuT7LGiLXQKxepWpnfd0aY1-jPt~3Vvw0bPUNaXw7NhfpJF1nWbXzJZt634oLzuivuN6qvk7nP9ZfKKikrrg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Analysis_of_association_of_potentially_functional_genetic_variants_within_genes_encoding_miR_34b_c_miR_378_and_miR_143_145_with_prostate_cancer_in_Serbian_population","translated_slug":"","page_count":15,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681173,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681173/thumbnails/1.jpg","file_name":"Brajuskovic_16072019_proof.pdf","download_url":"https://www.academia.edu/attachments/114681173/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Analysis_of_association_of_potentially_f.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681173/Brajuskovic_16072019_proof-libre.pdf?1716022245=\u0026response-content-disposition=attachment%3B+filename%3DAnalysis_of_association_of_potentially_f.pdf\u0026Expires=1732732854\u0026Signature=Kd2a77WaWh8pDekBKMK2I0H19wehL0PavIjfUfroNLSekzXMEDSrD~HixL5kMqwCsPBSprxpwEBP~GudJu-9o0-AifTS786qwZZPYnB6Y-UFWtNIq3wIeFEnq15rW35T~vMZWWofk7P~gqKszdjznA3CfJEslaDBJqxv4Xgu~M3pgYeI~hxGXG6PbcfbEmt6tKxucJlLa05DyQlsmg9D4RV5X~pla7eYhR3Zne-eb1U4pD2iSyFGAfzpEhK4vxRgCzfuT7LGiLXQKxepWpnfd0aY1-jPt~3Vvw0bPUNaXw7NhfpJF1nWbXzJZt634oLzuivuN6qvk7nP9ZfKKikrrg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":5490,"name":"MicroRNA","url":"https://www.academia.edu/Documents/in/MicroRNA"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":52523,"name":"miRNA","url":"https://www.academia.edu/Documents/in/miRNA"},{"id":52739,"name":"Association study","url":"https://www.academia.edu/Documents/in/Association_study"},{"id":98939,"name":"Pubmed","url":"https://www.academia.edu/Documents/in/Pubmed"},{"id":149684,"name":"Rs","url":"https://www.academia.edu/Documents/in/Rs"},{"id":374336,"name":"Snp","url":"https://www.academia.edu/Documents/in/Snp"},{"id":403740,"name":"Single Nucleotide Polymorphism","url":"https://www.academia.edu/Documents/in/Single_Nucleotide_Polymorphism"},{"id":486784,"name":"Genotyping","url":"https://www.academia.edu/Documents/in/Genotyping"},{"id":515169,"name":"DDC","url":"https://www.academia.edu/Documents/in/DDC"},{"id":1004200,"name":"Allele","url":"https://www.academia.edu/Documents/in/Allele"}],"urls":[{"id":42067634,"url":"https://pubmed.ncbi.nlm.nih.gov/31423132"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272511"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272511/Repeat_Interruptions_Modify_Age_at_Onset_in_Myotonic_Dystrophy_Type_1_by_Stabilizing_DMPK_Expansions_in_Somatic_Cells"><img alt="Research paper thumbnail of Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells" class="work-thumbnail" src="https://attachments.academia-assets.com/114681175/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272511/Repeat_Interruptions_Modify_Age_at_Onset_in_Myotonic_Dystrophy_Type_1_by_Stabilizing_DMPK_Expansions_in_Somatic_Cells">Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells</a></div><div class="wp-workCard_item"><span>Frontiers in Genetics</span><span>, Nov 27, 2018</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="716c7213d8c522e64f1b20ad882ae243" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681175,&quot;asset_id&quot;:119272511,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681175/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272511"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272511"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272511; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272511]").text(description); $(".js-view-count[data-work-id=119272511]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272511; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272511']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272511, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "716c7213d8c522e64f1b20ad882ae243" } } $('.js-work-strip[data-work-id=119272511]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272511,"title":"Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells","translated_title":"","metadata":{"publisher":"Frontiers Media","grobid_abstract":"CTG expansions in DMPK gene, causing myotonic dystrophy type 1 (DM1), are characterized by pronounced somatic instability. A large proportion of variability of somatic instability is explained by expansion size and patient's age at sampling, while individual-specific differences are attributed to additional factors. The age at onset is extremely variable in DM1, and inversely correlates with the expansion size and individual-specific differences in somatic instability. Three to five percent of DM1 patients carry repeat interruptions and some appear with later age at onset than expected for corresponding expansion size. Herein, we characterized somatic instability of interrupted DMPK expansions and the effect on age at onset in our previously described patients. Repeat-primed PCR showed stable structures of different types and patterns of repeat interruptions in blood cells over time and buccal cells. Single-molecule small-pool PCR quantification of somatic instability and mathematical modeling showed that interrupted expansions were characterized by lower level of somatic instability accompanied by slower progression over time. Mathematical modeling demonstrated that individual-specific differences in somatic instability had greater influence on age at onset in patients with interrupted expansions. Therefore, repeat interruptions have clinical importance for disease course in DM1 patients due to stabilizing effect on DMPK expansions in somatic cells.","publication_date":{"day":27,"month":11,"year":2018,"errors":{}},"publication_name":"Frontiers in Genetics","grobid_abstract_attachment_id":114681175},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272511/Repeat_Interruptions_Modify_Age_at_Onset_in_Myotonic_Dystrophy_Type_1_by_Stabilizing_DMPK_Expansions_in_Somatic_Cells","translated_internal_url":"","created_at":"2024-05-18T00:53:23.405-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681175,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681175/thumbnails/1.jpg","file_name":"417fbf05ae58faae41976e0f8df44fd70b17.pdf","download_url":"https://www.academia.edu/attachments/114681175/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Repeat_Interruptions_Modify_Age_at_Onset.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681175/417fbf05ae58faae41976e0f8df44fd70b17-libre.pdf?1716022257=\u0026response-content-disposition=attachment%3B+filename%3DRepeat_Interruptions_Modify_Age_at_Onset.pdf\u0026Expires=1732732854\u0026Signature=gZ4xjJR23p9yCtmDNbpOokiv6njqXhNf3M7eNYmGD7mCYjK8HffkmaQXqwqziomvOOOxVwZjdMl984W10hI6hakLkdzRqJKm2dTBeDxiFy390bfOz-mcxCpBO8yGBdoBokO5fiDthXfpAD3K4MJFMlNEIczVRSrrAiz9qEtD6w3Q5aVKK0oVa295N4-8YWR2NelQJ5JcAatwju5BUdYFy8X76thcvoZWfX9KgU0DHehgI7pxtDCfZCAUQFMw3mLlHfzc0wKv1lQeEcKpTD8ZanCTgWFBtZRRrz4NAnVmOgiU9FfoDyLX9owNMAVsRv0BRT4rQzQm5RfCLlOVTaaV8Q__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Repeat_Interruptions_Modify_Age_at_Onset_in_Myotonic_Dystrophy_Type_1_by_Stabilizing_DMPK_Expansions_in_Somatic_Cells","translated_slug":"","page_count":14,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681175,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681175/thumbnails/1.jpg","file_name":"417fbf05ae58faae41976e0f8df44fd70b17.pdf","download_url":"https://www.academia.edu/attachments/114681175/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Repeat_Interruptions_Modify_Age_at_Onset.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681175/417fbf05ae58faae41976e0f8df44fd70b17-libre.pdf?1716022257=\u0026response-content-disposition=attachment%3B+filename%3DRepeat_Interruptions_Modify_Age_at_Onset.pdf\u0026Expires=1732732854\u0026Signature=gZ4xjJR23p9yCtmDNbpOokiv6njqXhNf3M7eNYmGD7mCYjK8HffkmaQXqwqziomvOOOxVwZjdMl984W10hI6hakLkdzRqJKm2dTBeDxiFy390bfOz-mcxCpBO8yGBdoBokO5fiDthXfpAD3K4MJFMlNEIczVRSrrAiz9qEtD6w3Q5aVKK0oVa295N4-8YWR2NelQJ5JcAatwju5BUdYFy8X76thcvoZWfX9KgU0DHehgI7pxtDCfZCAUQFMw3mLlHfzc0wKv1lQeEcKpTD8ZanCTgWFBtZRRrz4NAnVmOgiU9FfoDyLX9owNMAVsRv0BRT4rQzQm5RfCLlOVTaaV8Q__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":141786,"name":"Myotonic Dystrophy","url":"https://www.academia.edu/Documents/in/Myotonic_Dystrophy"},{"id":956026,"name":"Somatic Cell Count","url":"https://www.academia.edu/Documents/in/Somatic_Cell_Count"}],"urls":[{"id":42067633,"url":"https://doi.org/10.3389/fgene.2018.00601"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272510"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272510/Genetic_Association_Studies_on_Prostate_Cancer"><img alt="Research paper thumbnail of Genetic Association Studies on Prostate Cancer" class="work-thumbnail" src="https://attachments.academia-assets.com/114681174/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272510/Genetic_Association_Studies_on_Prostate_Cancer">Genetic Association Studies on Prostate Cancer</a></div><div class="wp-workCard_item"><span>InTech eBooks</span><span>, Sep 28, 2016</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="aad9635132a9fc8790dc27506fbaf2dc" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681174,&quot;asset_id&quot;:119272510,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681174/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272510"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272510"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272510; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272510]").text(description); $(".js-view-count[data-work-id=119272510]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272510; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272510']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272510, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "aad9635132a9fc8790dc27506fbaf2dc" } } $('.js-work-strip[data-work-id=119272510]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272510,"title":"Genetic Association Studies on Prostate Cancer","translated_title":"","metadata":{"publisher":"InTech","grobid_abstract":"The modern research on molecular basis of prostate cancer (PCa) development includes studies aiming to identify potential genetic markers which could be used in diagnostics and/or monitoring of PCa. Genome-wide association studies (GWASs) have identified over 75 variants associated with PCa risk. One of the major PCarelated regions identified through GWASs is found to be a segment of 8q24. Other important PCa-susceptibility regions are 17q12, 17q24, 10q11, and 19q13. Candidategene based approach has also provided evidence of association between PCa risk and genetic variants located in functionally significant genes (both protein-coding and noncoding RNA genes) involved in normal prostatic cell growth, malignant transformation, or in the development of metastases. Nevertheless, the success of these studies is questionable, since numerous candidates for PCa-susceptibility variants were identified, but these results failed to replicate. The main aim of both types of genetic association studies on PCa is the identification of potential PCa genetic markers which could be used for constructing reliable algorithms for evaluating the risk for PCa development and/or PCa progression.","publication_date":{"day":28,"month":9,"year":2016,"errors":{}},"publication_name":"InTech eBooks","grobid_abstract_attachment_id":114681174},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272510/Genetic_Association_Studies_on_Prostate_Cancer","translated_internal_url":"","created_at":"2024-05-18T00:53:22.925-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681174,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681174/thumbnails/1.jpg","file_name":"956ba4c8b1c8c174caed32786dc5ee0652c7.pdf","download_url":"https://www.academia.edu/attachments/114681174/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Genetic_Association_Studies_on_Prostate.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681174/956ba4c8b1c8c174caed32786dc5ee0652c7-libre.pdf?1716022286=\u0026response-content-disposition=attachment%3B+filename%3DGenetic_Association_Studies_on_Prostate.pdf\u0026Expires=1732732854\u0026Signature=BUKBhiIiTM30gY-wx6hvFxVLLD79L86C8Z8-4TIwABiRgrwIWMLRsLc4kyJ8PKOIhKh75zMP7RjbImVq~GkA0lC22eKe4joV17my3iRwiXSgJKF-MH9JnfzOd-bipOMnXGBjoFd2qJ926YhhGhwAZMvXRQNU3itMsj91~0PEhyyRgZmQE3vmxS6Ie5hth4c4u8HKena7SA0hP2hvUcb1cmacLRpgOZmVLUZuJx0gcSyxibqd1qCMCKcf1zpUsLz2owyT04NsyVmYK8tFcQkWJJ1LVCNoHeKLj-ixRYNwXI9dvrLK8Lxy8stmNobl1J4727~p5sictOeuWZCONrYbDA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Genetic_Association_Studies_on_Prostate_Cancer","translated_slug":"","page_count":35,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681174,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681174/thumbnails/1.jpg","file_name":"956ba4c8b1c8c174caed32786dc5ee0652c7.pdf","download_url":"https://www.academia.edu/attachments/114681174/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Genetic_Association_Studies_on_Prostate.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681174/956ba4c8b1c8c174caed32786dc5ee0652c7-libre.pdf?1716022286=\u0026response-content-disposition=attachment%3B+filename%3DGenetic_Association_Studies_on_Prostate.pdf\u0026Expires=1732732854\u0026Signature=BUKBhiIiTM30gY-wx6hvFxVLLD79L86C8Z8-4TIwABiRgrwIWMLRsLc4kyJ8PKOIhKh75zMP7RjbImVq~GkA0lC22eKe4joV17my3iRwiXSgJKF-MH9JnfzOd-bipOMnXGBjoFd2qJ926YhhGhwAZMvXRQNU3itMsj91~0PEhyyRgZmQE3vmxS6Ie5hth4c4u8HKena7SA0hP2hvUcb1cmacLRpgOZmVLUZuJx0gcSyxibqd1qCMCKcf1zpUsLz2owyT04NsyVmYK8tFcQkWJJ1LVCNoHeKLj-ixRYNwXI9dvrLK8Lxy8stmNobl1J4727~p5sictOeuWZCONrYbDA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":735504,"name":"Genetic Association","url":"https://www.academia.edu/Documents/in/Genetic_Association"}],"urls":[{"id":42067632,"url":"https://doi.org/10.5772/63280"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272509"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272509/S105_Assessment_of_possible_association_between_genetic_variant_rs895819_in_miR_27a_gene_and_infertility_in_males_diagnosed_with_non_obstructive_azoospermia_NOA_from_Serbian_population"><img alt="Research paper thumbnail of S105: Assessment of possible association between genetic variant rs895819 in miR-27a gene and infertility in males diagnosed with non-obstructive azoospermia (NOA) from Serbian population" class="work-thumbnail" src="https://attachments.academia-assets.com/114681164/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272509/S105_Assessment_of_possible_association_between_genetic_variant_rs895819_in_miR_27a_gene_and_infertility_in_males_diagnosed_with_non_obstructive_azoospermia_NOA_from_Serbian_population">S105: Assessment of possible association between genetic variant rs895819 in miR-27a gene and infertility in males diagnosed with non-obstructive azoospermia (NOA) from Serbian population</a></div><div class="wp-workCard_item"><span>European Urology Supplements</span><span>, Nov 1, 2014</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="9c8aeee86e5c52b020d0485f015de1ec" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681164,&quot;asset_id&quot;:119272509,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681164/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272509"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272509"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272509; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272509]").text(description); $(".js-view-count[data-work-id=119272509]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272509; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272509']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272509, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "9c8aeee86e5c52b020d0485f015de1ec" } } $('.js-work-strip[data-work-id=119272509]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272509,"title":"S105: Assessment of possible association between genetic variant rs895819 in miR-27a gene and infertility in males diagnosed with non-obstructive azoospermia (NOA) from Serbian population","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"INTRODUCTION \u0026 OBJECTIVES: Despite significant improvement in the male infertility diagnostic procedures, its etiology remains unknown in more than half of cases. Idiopathic non-obstructive azoospermia (NOA) is diagnosed in infertile men who suffer from impaired spermatogenesis of unknown cause, accompanied by reduced number of spermatozoa in ejaculate. Experimental studies based on results of microarray analysis confirmed that RNA interference has important role in spermatogenesis, thus seminal microRNAs (miRNAs) could be used as potential biomarkers for male infertility. Furthermore, genetic variants affecting biogenesis and/or function of these microRNA could be associated with the increased risk of male infertility. Given that miR-27a was found to be underexperssed in abnormal semen of men diagnosed with NOA, the aim of this study was to evaluate possible association between potentially functional genetic variant rs895819 in miR-27a and infertility in males diagnosed with NOA from Serbian population. MATERIAL \u0026 METHODS: This study included 81 men with idiopathic NOA and 93 fertile men used as controls. Genomic DNA was extracted from buccal swabs using commercial kits for DNA isolation. Genotypes for genetic variant in miR-27a gene were determined by allele-specific Polymerase Chain Reaction using self-designed oligonucleotide primers and self-optimized genotyping protocol. Genotyping data were processed using statistical program SNPstats. The exact test implemented in this software was used to assess potential deviation from Hardy-Weinberg equilibrium in control group. Using statistical tests based on logistic regression we examined differences in genotype distributions between infertile males and fertile controls. Association between alleles and genotypes of rs895819 and infertility in males with NOA was tested using five genetic models (Codominant, Dominant, Recessive, Overdominant, Log-additive). RESULTS: In our study, no evidence of association between rs895819 in miR-27a gene and infertility in males with NOA was found under all five genetic models tested. The least P value was obtained for dominant genetic model, which still did not reach the statistical significance, nor the statistical trend of significance (0.1\u003eP\u003e0.05) (OR=1.05; 95% CI 0.57-1.92; P=0.88). CONCLUSIONS: The results obtained in this study did not support the association between genetic variant rs895819 in miR-27a gene and infertility in males diagnosed with NOA.","publication_date":{"day":1,"month":11,"year":2014,"errors":{}},"publication_name":"European Urology Supplements","grobid_abstract_attachment_id":114681164},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272509/S105_Assessment_of_possible_association_between_genetic_variant_rs895819_in_miR_27a_gene_and_infertility_in_males_diagnosed_with_non_obstructive_azoospermia_NOA_from_Serbian_population","translated_internal_url":"","created_at":"2024-05-18T00:53:22.525-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681164,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681164/thumbnails/1.jpg","file_name":"S1569-905628142961676-620240518-1-1t3zz8.pdf","download_url":"https://www.academia.edu/attachments/114681164/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"S105_Assessment_of_possible_association.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681164/S1569-905628142961676-620240518-1-1t3zz8-libre.pdf?1716022244=\u0026response-content-disposition=attachment%3B+filename%3DS105_Assessment_of_possible_association.pdf\u0026Expires=1732732854\u0026Signature=fjwGpzkH65h5eUgbXvv3CbQMfMqMyIMR4Xd2I3CqdZegED5QGJVGJHRVfsrt8-LUBTFPItLILpP4SXXJIE94plQ~xrC1ThjUlTck-T0DuQVawrEXtocpSxwFxco7Ruee25iGxHAkvp-6h9XDkykaV6Ir8-I1dn20I3QfpX4TCZv8dD1KATY6GEEYMBA-EVi2UlAPxi2t5gRcFv7gAzvALtYKF~8~6X0ve5H0ZzsqasaPzwbw4ZjRW3NYtchS2lc4yYsZJbS5kysyWTLJLE9z5pSwN~qNYpD2cUzCWXtpz5ahtjtsX7jx8fJRTdf0bS9gz9X~HHhJXcFVlYKX1Pkpgg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"S105_Assessment_of_possible_association_between_genetic_variant_rs895819_in_miR_27a_gene_and_infertility_in_males_diagnosed_with_non_obstructive_azoospermia_NOA_from_Serbian_population","translated_slug":"","page_count":1,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681164,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681164/thumbnails/1.jpg","file_name":"S1569-905628142961676-620240518-1-1t3zz8.pdf","download_url":"https://www.academia.edu/attachments/114681164/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"S105_Assessment_of_possible_association.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681164/S1569-905628142961676-620240518-1-1t3zz8-libre.pdf?1716022244=\u0026response-content-disposition=attachment%3B+filename%3DS105_Assessment_of_possible_association.pdf\u0026Expires=1732732854\u0026Signature=fjwGpzkH65h5eUgbXvv3CbQMfMqMyIMR4Xd2I3CqdZegED5QGJVGJHRVfsrt8-LUBTFPItLILpP4SXXJIE94plQ~xrC1ThjUlTck-T0DuQVawrEXtocpSxwFxco7Ruee25iGxHAkvp-6h9XDkykaV6Ir8-I1dn20I3QfpX4TCZv8dD1KATY6GEEYMBA-EVi2UlAPxi2t5gRcFv7gAzvALtYKF~8~6X0ve5H0ZzsqasaPzwbw4ZjRW3NYtchS2lc4yYsZJbS5kysyWTLJLE9z5pSwN~qNYpD2cUzCWXtpz5ahtjtsX7jx8fJRTdf0bS9gz9X~HHhJXcFVlYKX1Pkpgg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":6126,"name":"Serbian","url":"https://www.academia.edu/Documents/in/Serbian"},{"id":20317,"name":"Infertility","url":"https://www.academia.edu/Documents/in/Infertility"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":64336,"name":"Population","url":"https://www.academia.edu/Documents/in/Population"},{"id":178928,"name":"Male Infertility","url":"https://www.academia.edu/Documents/in/Male_Infertility"},{"id":208557,"name":"Azoospermia","url":"https://www.academia.edu/Documents/in/Azoospermia"},{"id":339107,"name":"Gynecology","url":"https://www.academia.edu/Documents/in/Gynecology"}],"urls":[{"id":42067631,"url":"https://doi.org/10.1016/s1569-9056(14)61676-6"}]}, dispatcherData: dispatcherData }); 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Its huge phenotypic variability cannot be explained solely by the repeat number. Recently, variant repeats within the DMPK expansions have emerged as potential disease modifiers. The frequency of variant expanded alleles was estimated in 242 DM1 patients from 174 Serbian families using repeat-primed PCR (RP-PCR). The patterns of variant repeats were determined by direct sequencing of RP-PCR or PCR products. PCR-based southern blot was performed to get insight into the intergenerational mutational dynamics of variant expanded alleles. All patients carrying variant repeats were clinically reexamined. Variant repeats were observed in eight patients from five families (2.9%). They were detected only at the 3′ end of DMPK expansions. CCG variant repeats were present in seven patients, either as a part of regular runs of CCGCTG hexamer, individual repeats, or CCG blocks. Analyses of three intergenerational transmissions revealed a considerable stability or likely a contraction of variant expanded alleles. Intriguingly, a decrease in age at onset accompanied these transmissions. Overall, patients were characterized by a milder phenotype and/or some atypical symptoms that could be rather clinically suggestive of myotonic dystrophy type 2. In addition, the first case of de novo CTC variant repeat was observed. Variant repeats might explain a part of the phenotypic variability in a small percent of DM1 patients and likely display a stabilizing effect on the meiotic instability of DMPK expanded alleles.","publication_date":{"day":23,"month":9,"year":2017,"errors":{}},"publication_name":"Neurogenetics","grobid_abstract_attachment_id":114681182},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272508/Molecular_genetic_and_clinical_characterization_of_myotonic_dystrophy_type_1_patients_carrying_variant_repeats_within_DMPK_expansions","translated_internal_url":"","created_at":"2024-05-18T00:53:22.106-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681182,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681182/thumbnails/1.jpg","file_name":"s10048-017-0523-720240518-1-q5vi3h.pdf","download_url":"https://www.academia.edu/attachments/114681182/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Molecular_genetic_and_clinical_character.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681182/s10048-017-0523-720240518-1-q5vi3h-libre.pdf?1716022247=\u0026response-content-disposition=attachment%3B+filename%3DMolecular_genetic_and_clinical_character.pdf\u0026Expires=1732732854\u0026Signature=cHZKLFXxz8IZrlkkevu0Jw7isO7AYoKoXqZvlHB9-VyPwRcDMIynR0WPotm~7jXCynvCNqNTgvRVfOV7l3JJAT~l7omBTEYpQ70g2TLVdw-iJOLjkIe~WzWkXUJ31-QkBA7TiMupbPTnZt9nA~YuP1uiodr0vjsHze5IgeKu3GgRcAlR5P6-wt9fR8teWLp9x8h1dzN4-soXf3z1P8jKjmw75Fbe0FErlmJQTvNQ3fgZC7xeMxOyvFcPHcLK-FyY65GrOvKifsiHfI13DzQaAsKpYaKGWPKrNt0urdGc16b2edOFiEr2vjKJy64~XdXgzjgUL60GnQtUw4nF2vxPxQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Molecular_genetic_and_clinical_characterization_of_myotonic_dystrophy_type_1_patients_carrying_variant_repeats_within_DMPK_expansions","translated_slug":"","page_count":12,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681182,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681182/thumbnails/1.jpg","file_name":"s10048-017-0523-720240518-1-q5vi3h.pdf","download_url":"https://www.academia.edu/attachments/114681182/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Molecular_genetic_and_clinical_character.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681182/s10048-017-0523-720240518-1-q5vi3h-libre.pdf?1716022247=\u0026response-content-disposition=attachment%3B+filename%3DMolecular_genetic_and_clinical_character.pdf\u0026Expires=1732732854\u0026Signature=cHZKLFXxz8IZrlkkevu0Jw7isO7AYoKoXqZvlHB9-VyPwRcDMIynR0WPotm~7jXCynvCNqNTgvRVfOV7l3JJAT~l7omBTEYpQ70g2TLVdw-iJOLjkIe~WzWkXUJ31-QkBA7TiMupbPTnZt9nA~YuP1uiodr0vjsHze5IgeKu3GgRcAlR5P6-wt9fR8teWLp9x8h1dzN4-soXf3z1P8jKjmw75Fbe0FErlmJQTvNQ3fgZC7xeMxOyvFcPHcLK-FyY65GrOvKifsiHfI13DzQaAsKpYaKGWPKrNt0urdGc16b2edOFiEr2vjKJy64~XdXgzjgUL60GnQtUw4nF2vxPxQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":237,"name":"Cognitive Science","url":"https://www.academia.edu/Documents/in/Cognitive_Science"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":14322,"name":"Neurogenetics","url":"https://www.academia.edu/Documents/in/Neurogenetics"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":141786,"name":"Myotonic Dystrophy","url":"https://www.academia.edu/Documents/in/Myotonic_Dystrophy"},{"id":1004200,"name":"Allele","url":"https://www.academia.edu/Documents/in/Allele"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"}],"urls":[{"id":42067630,"url":"https://doi.org/10.1007/s10048-017-0523-7"}]}, dispatcherData: dispatcherData }); 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Molecular genetics of myotonic disorders in Serbian patients" class="work-thumbnail" src="https://attachments.academia-assets.com/114681165/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272506/5_Molecular_genetics_of_myotonic_disorders_in_Serbian_patients">5. Molecular genetics of myotonic disorders in Serbian patients</a></div><div class="wp-workCard_item"><span>Clinical Neurophysiology</span><span>, Jul 1, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="6ee98eb85a1a553212f0564a2a4fd936" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681165,&quot;asset_id&quot;:119272506,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681165/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272506"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272506"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272506; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272506]").text(description); $(".js-view-count[data-work-id=119272506]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272506; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272506']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272506, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "6ee98eb85a1a553212f0564a2a4fd936" } } $('.js-work-strip[data-work-id=119272506]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272506,"title":"5. Molecular genetics of myotonic disorders in Serbian patients","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"Results: All 14 patients from 8 families expressed very severe neuropathy, sporadic in two cases and autosomal recessive in others. ENMG was typical for axonal neuropathies (small or no detectable SNAP and CMAP, especially on leg's nerves and normal or mildly decreased sensitive and motor velocity). Spontaneous activity was not myotonic, it was neuromyotonic, showing excess in excitability of the peripheral motor axons rather than muscles. Homozygote mutation (p.R37P) in new HINT1 gene was detected. Still, the exact mechanism through which HINT1 mutations cause peripheral neuropathy with neuromyotonia remains unclear. Conclusion: HINT1 neuropathies or autosomal recessive axonal neuropathy with neuromyotonia form a new disease entity among the myotonic syndromes and have to be differentiated clinically, neurophysiologically and genetically from both myotonic dystrophy and the various channelopathies causing non-dystrophic forms of myotonia.","publication_date":{"day":1,"month":7,"year":2013,"errors":{}},"publication_name":"Clinical Neurophysiology","grobid_abstract_attachment_id":114681165},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272506/5_Molecular_genetics_of_myotonic_disorders_in_Serbian_patients","translated_internal_url":"","created_at":"2024-05-18T00:53:21.155-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681165,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681165/thumbnails/1.jpg","file_name":"j.clinph.2012.12.01420240518-1-3lbzgs.pdf","download_url":"https://www.academia.edu/attachments/114681165/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"5_Molecular_genetics_of_myotonic_disorde.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681165/j.clinph.2012.12.01420240518-1-3lbzgs-libre.pdf?1716022244=\u0026response-content-disposition=attachment%3B+filename%3D5_Molecular_genetics_of_myotonic_disorde.pdf\u0026Expires=1732732854\u0026Signature=RkB2Q6weRtoRyH6tNnGVal31SJ2rsl2kweViAMA1dqkXOedtS8R22RPWlXufhWkflA5ezR-RXk9hspV0rPPKyt-X9e6NLsuCBSYRORVG6WUV7lYLSZtlqyiwrPwS44Ja9XXNWiG2upUdWWChIIcon3Qpg30LDmh7Hrub7joVZZyaWtaaunCTHcGM203UdSRmxGoDz9Q01T2nFjZvcL9Ikf7eJxA7lGrXR4Z8~4pgVY0liYKAEO06j8ipifc3P64ow1YrSH-OxbMAcV8dIHuDLslGX9~mzFSyPwmPgIU2MXKEfvCu-C29mZQ6t7skKFK3gjRiEYSCyiGtfN6YxG2bMA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"5_Molecular_genetics_of_myotonic_disorders_in_Serbian_patients","translated_slug":"","page_count":1,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681165,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681165/thumbnails/1.jpg","file_name":"j.clinph.2012.12.01420240518-1-3lbzgs.pdf","download_url":"https://www.academia.edu/attachments/114681165/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"5_Molecular_genetics_of_myotonic_disorde.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681165/j.clinph.2012.12.01420240518-1-3lbzgs-libre.pdf?1716022244=\u0026response-content-disposition=attachment%3B+filename%3D5_Molecular_genetics_of_myotonic_disorde.pdf\u0026Expires=1732732854\u0026Signature=RkB2Q6weRtoRyH6tNnGVal31SJ2rsl2kweViAMA1dqkXOedtS8R22RPWlXufhWkflA5ezR-RXk9hspV0rPPKyt-X9e6NLsuCBSYRORVG6WUV7lYLSZtlqyiwrPwS44Ja9XXNWiG2upUdWWChIIcon3Qpg30LDmh7Hrub7joVZZyaWtaaunCTHcGM203UdSRmxGoDz9Q01T2nFjZvcL9Ikf7eJxA7lGrXR4Z8~4pgVY0liYKAEO06j8ipifc3P64ow1YrSH-OxbMAcV8dIHuDLslGX9~mzFSyPwmPgIU2MXKEfvCu-C29mZQ6t7skKFK3gjRiEYSCyiGtfN6YxG2bMA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":48,"name":"Engineering","url":"https://www.academia.edu/Documents/in/Engineering"},{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":141786,"name":"Myotonic Dystrophy","url":"https://www.academia.edu/Documents/in/Myotonic_Dystrophy"},{"id":263020,"name":"Clinical Neurophysiology","url":"https://www.academia.edu/Documents/in/Clinical_Neurophysiology"},{"id":1004200,"name":"Allele","url":"https://www.academia.edu/Documents/in/Allele"},{"id":2922956,"name":"Psychology and Cognitive Sciences","url":"https://www.academia.edu/Documents/in/Psychology_and_Cognitive_Sciences"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences"}],"urls":[{"id":42067628,"url":"https://doi.org/10.1016/j.clinph.2012.12.014"}]}, dispatcherData: dispatcherData }); 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Oncology Research</span><span>, Jun 17, 2020</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="12dd058fd17dc9776eccd0b3d90a893d" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681180,&quot;asset_id&quot;:119272505,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681180/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272505"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272505"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272505; 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Among the most extensively studied miRSNPs in the context of cancer is the variation rs4245739 in the MDM4 gene, while a recent large-scale analysis revealed significant differences in genotype distributions between aggressive and non-aggressive disease for rs1058205 in KLK3 and rs1010 in VAMP8. In this study, we examined a total of 1083 subjects for these three variants using Taqman® SNP Genotyping Assays. Three hundred and fifty-five samples of peripheral blood were obtained from patients with PCa and 358 samples from patients with benign prostatic hyperplasia (BPH). The control group consisted of 370 healthy volunteers. Comparisons of genotype distributions among PCa and BPH patients, as well as between PCa patients and healthy controls, yielded no evidence of association between the analyzed genetic variants and the risk of developing PCa. However, all three tested genetic variants have shown the association with the parameters of PCa progression. For KLK3 variant rs1058205, minor allele C was found to associate with the lower serum PSA score in PCa patients (PSA \u003e 20 ng/ml vs. PSA \u003c 10 ng/ml comparison, Prec = 0.038; ORrec = 0.20, 95%CI 0.04-1.05). The obtained results point out the potential relevance of the tested genetic variants for the disease aggressiveness assessment.","publication_date":{"day":17,"month":6,"year":2020,"errors":{}},"publication_name":"Pathology \u0026 Oncology Research","grobid_abstract_attachment_id":114681180},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272505/Association_of_KLK3_VAMP8_and_MDM4_Genetic_Variants_within_microRNA_Binding_Sites_with_Prostate_Cancer_Evidence_from_Serbian_Population","translated_internal_url":"","created_at":"2024-05-18T00:53:20.710-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681180,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681180/thumbnails/1.jpg","file_name":"s12253-020-00839-720240518-1-gpvfgy.pdf","download_url":"https://www.academia.edu/attachments/114681180/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_of_KLK3_VAMP8_and_MDM4_Genet.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681180/s12253-020-00839-720240518-1-gpvfgy-libre.pdf?1716022252=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_of_KLK3_VAMP8_and_MDM4_Genet.pdf\u0026Expires=1732732854\u0026Signature=C~uhKv3tWPsRSsXMYVq6QFne9PNMNQoATb4I6KTwsgY7l1C77nH2In7bTlgXOt0DQkRVQhqXE4Upj65s5iuKBZWELBYpye7BEWXJQVAd51CH6~~2r8gkUZTxU10zzmm2iHlEEqJoKjhM7nvIpN42BQVqbRegxVfeNMCwsxVnAOKncwt4o~EF7CI9lqz82-RTrORelTf3Cc0L1UJLEY8HL1qTpKOxaMCbpnuNz5BtNqAoXJhNXES~e6omv2hSOYQTrmdSV7LaM1dc-R7a-~P2KUfbGpX~Z362J3c4vCNmPjLpVWJeube~5oGn9kcY0dWa2NzoaPldknYQe6nOk8KG4A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Association_of_KLK3_VAMP8_and_MDM4_Genetic_Variants_within_microRNA_Binding_Sites_with_Prostate_Cancer_Evidence_from_Serbian_Population","translated_slug":"","page_count":15,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681180,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681180/thumbnails/1.jpg","file_name":"s12253-020-00839-720240518-1-gpvfgy.pdf","download_url":"https://www.academia.edu/attachments/114681180/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_of_KLK3_VAMP8_and_MDM4_Genet.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681180/s12253-020-00839-720240518-1-gpvfgy-libre.pdf?1716022252=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_of_KLK3_VAMP8_and_MDM4_Genet.pdf\u0026Expires=1732732854\u0026Signature=C~uhKv3tWPsRSsXMYVq6QFne9PNMNQoATb4I6KTwsgY7l1C77nH2In7bTlgXOt0DQkRVQhqXE4Upj65s5iuKBZWELBYpye7BEWXJQVAd51CH6~~2r8gkUZTxU10zzmm2iHlEEqJoKjhM7nvIpN42BQVqbRegxVfeNMCwsxVnAOKncwt4o~EF7CI9lqz82-RTrORelTf3Cc0L1UJLEY8HL1qTpKOxaMCbpnuNz5BtNqAoXJhNXES~e6omv2hSOYQTrmdSV7LaM1dc-R7a-~P2KUfbGpX~Z362J3c4vCNmPjLpVWJeube~5oGn9kcY0dWa2NzoaPldknYQe6nOk8KG4A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":5490,"name":"MicroRNA","url":"https://www.academia.edu/Documents/in/MicroRNA"},{"id":6126,"name":"Serbian","url":"https://www.academia.edu/Documents/in/Serbian"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":403740,"name":"Single Nucleotide Polymorphism","url":"https://www.academia.edu/Documents/in/Single_Nucleotide_Polymorphism"},{"id":486784,"name":"Genotyping","url":"https://www.academia.edu/Documents/in/Genotyping"},{"id":2866225,"name":"Pathology and Oncology","url":"https://www.academia.edu/Documents/in/Pathology_and_Oncology"}],"urls":[{"id":42067627,"url":"https://doi.org/10.1007/s12253-020-00839-7"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272504"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272504/The_effect_of_epistatic_interactions_between_genetic_variants_located_in_microRNA_and_silencing_complex_genes_on_prostate_cancer_progression_risk"><img alt="Research paper thumbnail of The effect of epistatic interactions between genetic variants located in microRNA and silencing complex genes on prostate cancer progression risk" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272504/The_effect_of_epistatic_interactions_between_genetic_variants_located_in_microRNA_and_silencing_complex_genes_on_prostate_cancer_progression_risk">The effect of epistatic interactions between genetic variants located in microRNA and silencing complex genes on prostate cancer progression risk</a></div><div class="wp-workCard_item"><span>Genetika</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Previous studies conducted in Asian and European populations have provided evidence of the associ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Previous studies conducted in Asian and European populations have provided evidence of the association between microRNA-related genetic variants and prostate cancer (PCa) risk and/or progression. Nevertheless, the results obtained in these studies are inconsistent, which could be explained by the limitations of single-locus main effect evaluations to detect joint effects of multiple genetic variants, reflected in statistical epistases. Therefore, we conducted the analysis of potential epistatic interactions between variants located in microRNA genes and in genes encoding the components of RNA-induced silencing complex (RISC) in relation with PCa risk/aggressiveness. Raw data on genotyping results from our previous studies involving four microRNA polymorphisms and five variants in RISC genes were subjected to the exclusion of samples based on missing data criterion, followed by the re-evaluation of Hardy-Weinberg equilibrium. Afterwards, these genotyping results were included in the ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272504"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272504"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272504; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272504]").text(description); $(".js-view-count[data-work-id=119272504]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272504; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272504']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272504, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=119272504]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272504,"title":"The effect of epistatic interactions between genetic variants located in microRNA and silencing complex genes on prostate cancer progression risk","translated_title":"","metadata":{"abstract":"Previous studies conducted in Asian and European populations have provided evidence of the association between microRNA-related genetic variants and prostate cancer (PCa) risk and/or progression. Nevertheless, the results obtained in these studies are inconsistent, which could be explained by the limitations of single-locus main effect evaluations to detect joint effects of multiple genetic variants, reflected in statistical epistases. Therefore, we conducted the analysis of potential epistatic interactions between variants located in microRNA genes and in genes encoding the components of RNA-induced silencing complex (RISC) in relation with PCa risk/aggressiveness. Raw data on genotyping results from our previous studies involving four microRNA polymorphisms and five variants in RISC genes were subjected to the exclusion of samples based on missing data criterion, followed by the re-evaluation of Hardy-Weinberg equilibrium. Afterwards, these genotyping results were included in the ...","publisher":"National Library of Serbia","publication_name":"Genetika"},"translated_abstract":"Previous studies conducted in Asian and European populations have provided evidence of the association between microRNA-related genetic variants and prostate cancer (PCa) risk and/or progression. Nevertheless, the results obtained in these studies are inconsistent, which could be explained by the limitations of single-locus main effect evaluations to detect joint effects of multiple genetic variants, reflected in statistical epistases. Therefore, we conducted the analysis of potential epistatic interactions between variants located in microRNA genes and in genes encoding the components of RNA-induced silencing complex (RISC) in relation with PCa risk/aggressiveness. Raw data on genotyping results from our previous studies involving four microRNA polymorphisms and five variants in RISC genes were subjected to the exclusion of samples based on missing data criterion, followed by the re-evaluation of Hardy-Weinberg equilibrium. Afterwards, these genotyping results were included in the ...","internal_url":"https://www.academia.edu/119272504/The_effect_of_epistatic_interactions_between_genetic_variants_located_in_microRNA_and_silencing_complex_genes_on_prostate_cancer_progression_risk","translated_internal_url":"","created_at":"2024-05-18T00:53:20.432-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"The_effect_of_epistatic_interactions_between_genetic_variants_located_in_microRNA_and_silencing_complex_genes_on_prostate_cancer_progression_risk","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":5490,"name":"MicroRNA","url":"https://www.academia.edu/Documents/in/MicroRNA"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":191148,"name":"Epistasis","url":"https://www.academia.edu/Documents/in/Epistasis"},{"id":214220,"name":"Multifactor Dimensionality Reduction","url":"https://www.academia.edu/Documents/in/Multifactor_Dimensionality_Reduction"},{"id":486784,"name":"Genotyping","url":"https://www.academia.edu/Documents/in/Genotyping"},{"id":1168521,"name":"Genetika","url":"https://www.academia.edu/Documents/in/Genetika"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272503"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272503/MiR_375_and_miR_21_as_Potential_Biomarkers_of_Prostate_Cancer_Comparison_of_Matching_Samples_of_Plasma_and_Exosomes"><img alt="Research paper thumbnail of MiR-375 and miR-21 as Potential Biomarkers of Prostate Cancer: Comparison of Matching Samples of Plasma and Exosomes" class="work-thumbnail" src="https://attachments.academia-assets.com/114681112/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272503/MiR_375_and_miR_21_as_Potential_Biomarkers_of_Prostate_Cancer_Comparison_of_Matching_Samples_of_Plasma_and_Exosomes">MiR-375 and miR-21 as Potential Biomarkers of Prostate Cancer: Comparison of Matching Samples of Plasma and Exosomes</a></div><div class="wp-workCard_item"><span>Genes</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">MiR-21 and miR-375 have been reported as dysregulated in prostate cancer (PCa) in multiple previo...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">MiR-21 and miR-375 have been reported as dysregulated in prostate cancer (PCa) in multiple previous studies. Still, variable or even opposing data for the expression of these microRNAs in PCa were found, and their potential biomarker properties remain elusive. In an attempt to clarify their significance as PCa biomarkers, as well as to compare different types of specimens as a source of relevant microRNAs, we used plasma and matching plasma-derived exosomes from patients with PCa and patients with benign prostatic hyperplasia (BPH). Plasma and exosomes were obtained from 34 patients with PCa and 34 patients with BPH, and their levels of expression of miR-21 and miR-375 were determined by RT-qPCR. We found no significant difference in the level of expression of these microRNAs in plasma and exosomes between patients with PCa and BPH. The level of exosomal miR-21 was elevated in PCa patients with high serum PSA values, as well as in patients with aggressive PCa, while for plasma sampl...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="5f2b8b6821d1bfeddf1ed3f9d9729862" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681112,&quot;asset_id&quot;:119272503,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681112/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272503"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272503"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272503; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272503]").text(description); $(".js-view-count[data-work-id=119272503]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272503; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272503']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272503, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "5f2b8b6821d1bfeddf1ed3f9d9729862" } } $('.js-work-strip[data-work-id=119272503]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272503,"title":"MiR-375 and miR-21 as Potential Biomarkers of Prostate Cancer: Comparison of Matching Samples of Plasma and Exosomes","translated_title":"","metadata":{"abstract":"MiR-21 and miR-375 have been reported as dysregulated in prostate cancer (PCa) in multiple previous studies. Still, variable or even opposing data for the expression of these microRNAs in PCa were found, and their potential biomarker properties remain elusive. In an attempt to clarify their significance as PCa biomarkers, as well as to compare different types of specimens as a source of relevant microRNAs, we used plasma and matching plasma-derived exosomes from patients with PCa and patients with benign prostatic hyperplasia (BPH). Plasma and exosomes were obtained from 34 patients with PCa and 34 patients with BPH, and their levels of expression of miR-21 and miR-375 were determined by RT-qPCR. We found no significant difference in the level of expression of these microRNAs in plasma and exosomes between patients with PCa and BPH. The level of exosomal miR-21 was elevated in PCa patients with high serum PSA values, as well as in patients with aggressive PCa, while for plasma sampl...","publisher":"MDPI AG","publication_name":"Genes"},"translated_abstract":"MiR-21 and miR-375 have been reported as dysregulated in prostate cancer (PCa) in multiple previous studies. Still, variable or even opposing data for the expression of these microRNAs in PCa were found, and their potential biomarker properties remain elusive. In an attempt to clarify their significance as PCa biomarkers, as well as to compare different types of specimens as a source of relevant microRNAs, we used plasma and matching plasma-derived exosomes from patients with PCa and patients with benign prostatic hyperplasia (BPH). Plasma and exosomes were obtained from 34 patients with PCa and 34 patients with BPH, and their levels of expression of miR-21 and miR-375 were determined by RT-qPCR. We found no significant difference in the level of expression of these microRNAs in plasma and exosomes between patients with PCa and BPH. The level of exosomal miR-21 was elevated in PCa patients with high serum PSA values, as well as in patients with aggressive PCa, while for plasma sampl...","internal_url":"https://www.academia.edu/119272503/MiR_375_and_miR_21_as_Potential_Biomarkers_of_Prostate_Cancer_Comparison_of_Matching_Samples_of_Plasma_and_Exosomes","translated_internal_url":"","created_at":"2024-05-18T00:53:19.938-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681112,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681112/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/114681112/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"MiR_375_and_miR_21_as_Potential_Biomarke.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681112/pdf-libre.pdf?1716022266=\u0026response-content-disposition=attachment%3B+filename%3DMiR_375_and_miR_21_as_Potential_Biomarke.pdf\u0026Expires=1732732854\u0026Signature=OQiCHSgXaKZKQQjHvD1CV0iadFzrsMdEbX1QIss9tFxTY~xgbyxtRsi8SdHhfHlZJG~aQpRaJQtke0SfINhNrBmHLR29fGi1r9jgndoaUzss4PMGJYrnPEu6LD3EkMTo-cjvbtn9W3IqNIHlNTI46P64txvWzdqcZuWH~5t529Rgm5~GHHAOc5mq6fPZmudXH-GGeGsttWJDuQg9u-XkGN2o6blHt4LNN~8jbRZB0v8iqcQK49Xmc5FwGXfMxgfKHBJiNPSuXNVvNJyyFPrJ7T~3~QFjJn0LPEH31Q6uUSsxcEoQcQWtaszgjAtORlXA6EL5FYL6ZxgrKXcnPgLZmw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"MiR_375_and_miR_21_as_Potential_Biomarkers_of_Prostate_Cancer_Comparison_of_Matching_Samples_of_Plasma_and_Exosomes","translated_slug":"","page_count":13,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681112,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681112/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/114681112/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"MiR_375_and_miR_21_as_Potential_Biomarke.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681112/pdf-libre.pdf?1716022266=\u0026response-content-disposition=attachment%3B+filename%3DMiR_375_and_miR_21_as_Potential_Biomarke.pdf\u0026Expires=1732732854\u0026Signature=OQiCHSgXaKZKQQjHvD1CV0iadFzrsMdEbX1QIss9tFxTY~xgbyxtRsi8SdHhfHlZJG~aQpRaJQtke0SfINhNrBmHLR29fGi1r9jgndoaUzss4PMGJYrnPEu6LD3EkMTo-cjvbtn9W3IqNIHlNTI46P64txvWzdqcZuWH~5t529Rgm5~GHHAOc5mq6fPZmudXH-GGeGsttWJDuQg9u-XkGN2o6blHt4LNN~8jbRZB0v8iqcQK49Xmc5FwGXfMxgfKHBJiNPSuXNVvNJyyFPrJ7T~3~QFjJn0LPEH31Q6uUSsxcEoQcQWtaszgjAtORlXA6EL5FYL6ZxgrKXcnPgLZmw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":5490,"name":"MicroRNA","url":"https://www.academia.edu/Documents/in/MicroRNA"},{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":65390,"name":"Internal Medicine","url":"https://www.academia.edu/Documents/in/Internal_Medicine"},{"id":176968,"name":"Hyperplasia","url":"https://www.academia.edu/Documents/in/Hyperplasia"},{"id":233229,"name":"Genes","url":"https://www.academia.edu/Documents/in/Genes"},{"id":338534,"name":"Biomarker","url":"https://www.academia.edu/Documents/in/Biomarker"},{"id":2228703,"name":"Microvesicles","url":"https://www.academia.edu/Documents/in/Microvesicles"}],"urls":[{"id":42067626,"url":"https://www.mdpi.com/2073-4425/13/12/2320/pdf"}]}, dispatcherData: dispatcherData }); 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Our aim was to evaluate the possible association between these susceptibility loci and idiopathic male infertility risk in the Serbian population. Methods A case-control study was conducted on 431 male individuals from the Serbian population divided into two groups. The case group consisted of 208 males diagnosed with oligoasthenozoospermia or non-obstructive azoospermia, while the control group involved 223 fertile men who have fathered at least one child. Results According to codominant (P codom = 0.048, OR codom = 0.57, 95%CI 0.35-0.92) and overdominant (P overdom = 0.017, OR overdom = 0.62, 95%CI 0.42-0.92) genetic models, rs10842262 was found to be associated with male infertility. Stratifying infertile men according to diagnosis yielded statistically significant results for non-obstructive azoospermia cases under multiple genetic models (P codom = 0.038, OR codom = 0.47, 95%CI 0.26-0.85; P dom = 0.031, OR dom = 0.53, 95%CI 0.30-0.94; P overdom = 0.016, OR overdom = 0.55, 95%CI 0.33-0.90). Minor allele C of rs2477686 genetic variant was shown to be associated with the reduced risk of oligoasthenozoospermia under the log-additive genetic model (P = 0.03, OR = 0.69, 95%CI 0.50-0.97). The results of the meta-analysis indicate both rs2477686 and rs10842262 to be associated with male infertility. Conclusion Our results show variants rs2477686 and rs10842262 to be significantly associated with male infertility in the Serbian population. Nevertheless, case-control studies in other populations are needed to validate their association with infertility in males diagnosed with oligoasthenozoospermia and non-obstructive azoospermia.","publication_date":{"day":null,"month":null,"year":2020,"errors":{}},"publication_name":"Journal of Assisted Reproduction and Genetics","grobid_abstract_attachment_id":114681169},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272502/Association_study_between_single_nucleotide_variants_rs12097821_rs2477686_and_rs10842262_and_idiopathic_male_infertility_risk_in_Serbian_population_with_meta_analysis","translated_internal_url":"","created_at":"2024-05-18T00:53:19.193-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681169,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681169/thumbnails/1.jpg","file_name":"pmc7642064.pdf","download_url":"https://www.academia.edu/attachments/114681169/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_study_between_single_nucleot.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681169/pmc7642064-libre.pdf?1716022252=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_study_between_single_nucleot.pdf\u0026Expires=1732732854\u0026Signature=UVn012C8UDjJzF-s8UOmcnYKwYNXjm04zr8~h~dfxm6-6~rBfURgtzk5nQBO6e4X9OdpR2cGzH9xIkQ8zhUNsER8ahRpT8jhH0iFVpTO3C~QDFfyOT6T6rneTQfos8~rzJWDyeTNm-zcbPePG7D~~EJ4F4N1e-AG1nrrl2MKOF5VjQ9DGzmQiiBNDcQBSrJ1ONhjWXY-Zi-TK1eWmulChOxCrIpH5UYNd~4ybw0TEjGcvHvv26bqvhkOJwjgo35f57EpSjigq614n3X7Zae564Nd3hIYe7Ht7Xd0o0buvGCU7w924LlhmqiAPBXaawnZ9RXNugYmap7E~ezOFM0d9w__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Association_study_between_single_nucleotide_variants_rs12097821_rs2477686_and_rs10842262_and_idiopathic_male_infertility_risk_in_Serbian_population_with_meta_analysis","translated_slug":"","page_count":14,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681169,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681169/thumbnails/1.jpg","file_name":"pmc7642064.pdf","download_url":"https://www.academia.edu/attachments/114681169/download_file?st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_study_between_single_nucleot.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681169/pmc7642064-libre.pdf?1716022252=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_study_between_single_nucleot.pdf\u0026Expires=1732732854\u0026Signature=UVn012C8UDjJzF-s8UOmcnYKwYNXjm04zr8~h~dfxm6-6~rBfURgtzk5nQBO6e4X9OdpR2cGzH9xIkQ8zhUNsER8ahRpT8jhH0iFVpTO3C~QDFfyOT6T6rneTQfos8~rzJWDyeTNm-zcbPePG7D~~EJ4F4N1e-AG1nrrl2MKOF5VjQ9DGzmQiiBNDcQBSrJ1ONhjWXY-Zi-TK1eWmulChOxCrIpH5UYNd~4ybw0TEjGcvHvv26bqvhkOJwjgo35f57EpSjigq614n3X7Zae564Nd3hIYe7Ht7Xd0o0buvGCU7w924LlhmqiAPBXaawnZ9RXNugYmap7E~ezOFM0d9w__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":20317,"name":"Infertility","url":"https://www.academia.edu/Documents/in/Infertility"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":64336,"name":"Population","url":"https://www.academia.edu/Documents/in/Population"},{"id":178928,"name":"Male Infertility","url":"https://www.academia.edu/Documents/in/Male_Infertility"},{"id":208557,"name":"Azoospermia","url":"https://www.academia.edu/Documents/in/Azoospermia"},{"id":339107,"name":"Gynecology","url":"https://www.academia.edu/Documents/in/Gynecology"},{"id":403740,"name":"Single Nucleotide Polymorphism","url":"https://www.academia.edu/Documents/in/Single_Nucleotide_Polymorphism"},{"id":3789883,"name":"Paediatrics and reproductive medicine","url":"https://www.academia.edu/Documents/in/Paediatrics_and_reproductive_medicine"}],"urls":[{"id":42067625,"url":"https://link.springer.com/content/pdf/10.1007/s10815-020-01920-5.pdf"}]}, dispatcherData: dispatcherData }); 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This paper reviews the results of previous work of the study group PROSTATSERBIA. In the candidate gene association study at the beginning of our research, we tested the association between several single nucleotide polymorphisms (SNPs) in the NOS3 gene and PCa risk and/or progression. In a population-based case-control study, we explored the possible association between PCa risk and seven SNPs identified by genome-wide association analyses (GWASs) in two chromosomal regions (8q24 and 17q12). For the first time in a European population, microRNA genetic variants and genetic variants in RNAinduced silencing complex (RISC) genes have been analyzed for their potential association with PCa.","publication_date":{"day":19,"month":7,"year":2017,"errors":{}},"grobid_abstract_attachment_id":114681157},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272499/Genetic_Basis_Of_Prostate_Cancer_Association_Studies","translated_internal_url":"","created_at":"2024-05-18T00:53:18.636-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681157,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681157/thumbnails/1.jpg","file_name":"07_Brajuskovic_et_al._2017_BS_39_1_41-45.pdf","download_url":"https://www.academia.edu/attachments/114681157/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Genetic_Basis_Of_Prostate_Cancer_Associa.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681157/07_Brajuskovic_et_al._2017_BS_39_1_41-45-libre.pdf?1716022252=\u0026response-content-disposition=attachment%3B+filename%3DGenetic_Basis_Of_Prostate_Cancer_Associa.pdf\u0026Expires=1732732854\u0026Signature=FoYO5Up~cSru3hWEWNvnkT0FsOZOe~rP1zJ~4thzJRZ-r10TBf3Cw-vjKN~4wKwsxLnt1Xd47bup9deXonS7mnFZZ3RY~JaFYHaiVOLmg5f65CfutzZXsDGqv3q7zWlV2bqgz29bj83UoL1raSRqT~dl9YO4eSJxuFuMpxSTyL-oLACnylYfo25AAfuogfiQnmyboJxze6Lwf6fMkpZFInFxbcZBoPvgzqmUKjgr69sEPelQBD7dN7AriBguRcPfGfQIwjFGBts2qJaR8uagSbf7J1dvHOPpJoSpI~S-7G0WwS7Z6DXJ~f5Xw7Le~txakBaLgIpVD9dvHgaj~GFJgg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Genetic_Basis_Of_Prostate_Cancer_Association_Studies","translated_slug":"","page_count":5,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681157,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681157/thumbnails/1.jpg","file_name":"07_Brajuskovic_et_al._2017_BS_39_1_41-45.pdf","download_url":"https://www.academia.edu/attachments/114681157/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Genetic_Basis_Of_Prostate_Cancer_Associa.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681157/07_Brajuskovic_et_al._2017_BS_39_1_41-45-libre.pdf?1716022252=\u0026response-content-disposition=attachment%3B+filename%3DGenetic_Basis_Of_Prostate_Cancer_Associa.pdf\u0026Expires=1732732854\u0026Signature=FoYO5Up~cSru3hWEWNvnkT0FsOZOe~rP1zJ~4thzJRZ-r10TBf3Cw-vjKN~4wKwsxLnt1Xd47bup9deXonS7mnFZZ3RY~JaFYHaiVOLmg5f65CfutzZXsDGqv3q7zWlV2bqgz29bj83UoL1raSRqT~dl9YO4eSJxuFuMpxSTyL-oLACnylYfo25AAfuogfiQnmyboJxze6Lwf6fMkpZFInFxbcZBoPvgzqmUKjgr69sEPelQBD7dN7AriBguRcPfGfQIwjFGBts2qJaR8uagSbf7J1dvHOPpJoSpI~S-7G0WwS7Z6DXJ~f5Xw7Le~txakBaLgIpVD9dvHgaj~GFJgg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":403740,"name":"Single Nucleotide Polymorphism","url":"https://www.academia.edu/Documents/in/Single_Nucleotide_Polymorphism"},{"id":735504,"name":"Genetic Association","url":"https://www.academia.edu/Documents/in/Genetic_Association"},{"id":4051953,"name":"Association Studies","url":"https://www.academia.edu/Documents/in/Association_Studies"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272498"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272498/Copy_number_variants_within_AZF_region_of_Y_chromosome_and_their_association_with_idiopathic_male_infertility_in_Serbian_population"><img alt="Research paper thumbnail of Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272498/Copy_number_variants_within_AZF_region_of_Y_chromosome_and_their_association_with_idiopathic_male_infertility_in_Serbian_population">Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population</a></div><div class="wp-workCard_item"><span>Andrologia</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Results of numerous studies gave contradictory conclusions when analysing associations between co...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Results of numerous studies gave contradictory conclusions when analysing associations between copy number variants (CNVs) within the azoospermia factor (AZF) locus of the Y chromosome and idiopathic male infertility. The aim of this study was to identify the presence and possible association of CNVs in the AZF region of Y chromosome with idiopathic male infertility in the Serbian population. Using the multiplex ligation-dependent probe amplification technique, we were able to detect CNVs in 24 of 105 (22.86%) infertile men and in 11 of 112 (9.82%) fertile controls. The results of Fisher&amp;#39;s exact test showed a statistically significant difference between cases and controls after merging g(reen)-r(ed)/g(reen)-r(ed) and b(lue)2/b(lue)3 partial deletions identified in the AZFc region (p = 0.024). At the same time, we observed a trend towards statistical significance for a deletion among gr/gr amplicons (p = 0.053). In addition to these, we identified a novel complex CNV involving inversion of r2/r3 amplicons, followed by b2/b3 duplication and b3/b4 deletion, respectively. Additional analyses on a larger study group would be necessary to draw meaningful conclusions about associations among CNVs that presented with higher frequency in the infertile men than the fertile controls.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272498"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272498"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272498; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272498]").text(description); $(".js-view-count[data-work-id=119272498]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272498; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272498']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272498, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=119272498]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272498,"title":"Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population","translated_title":"","metadata":{"abstract":"Results of numerous studies gave contradictory conclusions when analysing associations between copy number variants (CNVs) within the azoospermia factor (AZF) locus of the Y chromosome and idiopathic male infertility. The aim of this study was to identify the presence and possible association of CNVs in the AZF region of Y chromosome with idiopathic male infertility in the Serbian population. Using the multiplex ligation-dependent probe amplification technique, we were able to detect CNVs in 24 of 105 (22.86%) infertile men and in 11 of 112 (9.82%) fertile controls. The results of Fisher\u0026#39;s exact test showed a statistically significant difference between cases and controls after merging g(reen)-r(ed)/g(reen)-r(ed) and b(lue)2/b(lue)3 partial deletions identified in the AZFc region (p = 0.024). At the same time, we observed a trend towards statistical significance for a deletion among gr/gr amplicons (p = 0.053). In addition to these, we identified a novel complex CNV involving inversion of r2/r3 amplicons, followed by b2/b3 duplication and b3/b4 deletion, respectively. Additional analyses on a larger study group would be necessary to draw meaningful conclusions about associations among CNVs that presented with higher frequency in the infertile men than the fertile controls.","publisher":"Wiley","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Andrologia"},"translated_abstract":"Results of numerous studies gave contradictory conclusions when analysing associations between copy number variants (CNVs) within the azoospermia factor (AZF) locus of the Y chromosome and idiopathic male infertility. The aim of this study was to identify the presence and possible association of CNVs in the AZF region of Y chromosome with idiopathic male infertility in the Serbian population. Using the multiplex ligation-dependent probe amplification technique, we were able to detect CNVs in 24 of 105 (22.86%) infertile men and in 11 of 112 (9.82%) fertile controls. The results of Fisher\u0026#39;s exact test showed a statistically significant difference between cases and controls after merging g(reen)-r(ed)/g(reen)-r(ed) and b(lue)2/b(lue)3 partial deletions identified in the AZFc region (p = 0.024). At the same time, we observed a trend towards statistical significance for a deletion among gr/gr amplicons (p = 0.053). In addition to these, we identified a novel complex CNV involving inversion of r2/r3 amplicons, followed by b2/b3 duplication and b3/b4 deletion, respectively. Additional analyses on a larger study group would be necessary to draw meaningful conclusions about associations among CNVs that presented with higher frequency in the infertile men than the fertile controls.","internal_url":"https://www.academia.edu/119272498/Copy_number_variants_within_AZF_region_of_Y_chromosome_and_their_association_with_idiopathic_male_infertility_in_Serbian_population","translated_internal_url":"","created_at":"2024-05-18T00:53:18.005-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Copy_number_variants_within_AZF_region_of_Y_chromosome_and_their_association_with_idiopathic_male_infertility_in_Serbian_population","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":20317,"name":"Infertility","url":"https://www.academia.edu/Documents/in/Infertility"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":178928,"name":"Male Infertility","url":"https://www.academia.edu/Documents/in/Male_Infertility"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":322326,"name":"Copy Number Variation","url":"https://www.academia.edu/Documents/in/Copy_Number_Variation"},{"id":985419,"name":"Amplicon","url":"https://www.academia.edu/Documents/in/Amplicon"},{"id":3789883,"name":"Paediatrics and reproductive medicine","url":"https://www.academia.edu/Documents/in/Paediatrics_and_reproductive_medicine"}],"urls":[{"id":42067624,"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/and.14297"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272497"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272497/NOS3_gene_variants_and_male_infertility_Association_of_4a_4b_with_oligoasthenozoospermia"><img alt="Research paper thumbnail of NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia" class="work-thumbnail" src="https://attachments.academia-assets.com/114681153/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272497/NOS3_gene_variants_and_male_infertility_Association_of_4a_4b_with_oligoasthenozoospermia">NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia</a></div><div class="wp-workCard_item"><span>Andrologia</span><span>, 2017</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2805b8d069717e9709cce840980479dc" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681153,&quot;asset_id&quot;:119272497,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681153/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272497"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272497"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272497; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272497]").text(description); $(".js-view-count[data-work-id=119272497]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272497; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272497']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272497, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "2805b8d069717e9709cce840980479dc" } } $('.js-work-strip[data-work-id=119272497]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272497,"title":"NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia","translated_title":"","metadata":{"publisher":"Hindawi Limited","grobid_abstract":"Results of recent studies confirmed that oxidative stress negatively affects sperm motility and causes sperm DNA damage. Produced by nitric oxide synthase 3 (NOS3), nitric oxide is considered to be one of the important mediators of oxidative stress in testis tissue. The aim of this study was to assess the possible association of three genetic variants (rs2070744, rs1799983 and intron variant 4a/4b) in NOS3 gene and infertility occurrence in two groups of infertile men (idiopathic azoospermia and oligoasthenozoospermia) and fertile controls. Genotypes for the single-nucleotide genetic variants rs1799983 and rs2070744 were determined by PCR-RFLP, while genotyping of intron 4 variant 4a/4b was performed by gel electrophoresis of PCR products. Statistical analysis was performed by SNPStats software. No significant association between the three genetic variants of the NOS3 gene and infertility risk was determined comparing allele and genotype frequencies among group of patients diagnosed with azoospermia and the control group. Nevertheless, there was a significant positive association between 4a/4b and infertility in the group of males diagnosed with oligoasthenozoospermia, under overdominant genetic model. Our findings suggest that tandem repeat variant within intron 4 of the NOS3 gene is associated with an increased risk of infertility in men diagnosed with idiopathic oligoasthenozoospermia.","publication_date":{"day":null,"month":null,"year":2017,"errors":{}},"publication_name":"Andrologia","grobid_abstract_attachment_id":114681153},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272497/NOS3_gene_variants_and_male_infertility_Association_of_4a_4b_with_oligoasthenozoospermia","translated_internal_url":"","created_at":"2024-05-18T00:53:17.541-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681153,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681153/thumbnails/1.jpg","file_name":"and.1281720240518-1-8f21vd.pdf","download_url":"https://www.academia.edu/attachments/114681153/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"NOS3_gene_variants_and_male_infertility.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681153/and.1281720240518-1-8f21vd-libre.pdf?1716022254=\u0026response-content-disposition=attachment%3B+filename%3DNOS3_gene_variants_and_male_infertility.pdf\u0026Expires=1732732855\u0026Signature=RBS4f7wtrdYb5fa658jaPG4D3rNu7u2rHD0ATtRmwTQrcn9Pb~FoGzdrY1gpZOVQBQso0GsPrpySA1yKmb-mN9b~zyvKCC7IGmY1lXBohL2-cNqaLJHPd3mda~e3-G21ezaNVrJpPsL9FpJK5LY~yWtq8vJXsRtvPqE-3wOy2wYE7CcrS4AOzN-uzulD4fD8shIuAjt8Fjw1TXYM1UnGAeFmduoyqNpYv9GAHebpXjEdiHNzVQoz0VMe1a0X7o5y24Apk3En4oULlPAKRXWzEKYTRQ10B74h1UsqeafMd3hrZmEn7XSbIg8OXJVWeJM0CuuN5slnC4nL6c07~g8l5w__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"NOS3_gene_variants_and_male_infertility_Association_of_4a_4b_with_oligoasthenozoospermia","translated_slug":"","page_count":8,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681153,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681153/thumbnails/1.jpg","file_name":"and.1281720240518-1-8f21vd.pdf","download_url":"https://www.academia.edu/attachments/114681153/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"NOS3_gene_variants_and_male_infertility.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681153/and.1281720240518-1-8f21vd-libre.pdf?1716022254=\u0026response-content-disposition=attachment%3B+filename%3DNOS3_gene_variants_and_male_infertility.pdf\u0026Expires=1732732855\u0026Signature=RBS4f7wtrdYb5fa658jaPG4D3rNu7u2rHD0ATtRmwTQrcn9Pb~FoGzdrY1gpZOVQBQso0GsPrpySA1yKmb-mN9b~zyvKCC7IGmY1lXBohL2-cNqaLJHPd3mda~e3-G21ezaNVrJpPsL9FpJK5LY~yWtq8vJXsRtvPqE-3wOy2wYE7CcrS4AOzN-uzulD4fD8shIuAjt8Fjw1TXYM1UnGAeFmduoyqNpYv9GAHebpXjEdiHNzVQoz0VMe1a0X7o5y24Apk3En4oULlPAKRXWzEKYTRQ10B74h1UsqeafMd3hrZmEn7XSbIg8OXJVWeJM0CuuN5slnC4nL6c07~g8l5w__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":20317,"name":"Infertility","url":"https://www.academia.edu/Documents/in/Infertility"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":178928,"name":"Male Infertility","url":"https://www.academia.edu/Documents/in/Male_Infertility"},{"id":208557,"name":"Azoospermia","url":"https://www.academia.edu/Documents/in/Azoospermia"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":878264,"name":"Varicocele","url":"https://www.academia.edu/Documents/in/Varicocele"},{"id":3789883,"name":"Paediatrics and reproductive medicine","url":"https://www.academia.edu/Documents/in/Paediatrics_and_reproductive_medicine"}],"urls":[{"id":42067623,"url":"http://onlinelibrary.wiley.com/wol1/doi/10.1111/and.12817/fullpdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272496"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272496/Genetic_variants_in_RNA_induced_silencing_complex_genes_and_prostate_cancer"><img alt="Research paper thumbnail of Genetic variants in RNA-induced silencing complex genes and prostate cancer" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272496/Genetic_variants_in_RNA_induced_silencing_complex_genes_and_prostate_cancer">Genetic variants in RNA-induced silencing complex genes and prostate cancer</a></div><div class="wp-workCard_item"><span>World Journal of Urology</span><span>, 2016</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">PurposeThe purpose of this study is to evaluate the potential association between genetic variant...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">PurposeThe purpose of this study is to evaluate the potential association between genetic variants in genes encoding the components of RNA-induced silencing complex and prostate cancer (PCa) risk. Genetic variants chosen for this study are rs3742330 in DICER1, rs4961280 in AGO2, rs784567 in TARBP2, rs7813 in GEMIN4 and rs197414 in GEMIN3.MethodsThe study involved 355 PCa patients, 360 patients with benign prostatic hyperplasia and 318 healthy controls. For individuals diagnosed with PCa, clinicopathological characteristics including serum prostate-specific antigen level at diagnosis, Gleason score (GS) and clinical stage were determined. Genotyping was performed using high-resolution melting analysis, PCR–RFLP, TaqMan SNP Genotyping Assay and real-time PCR-based genotyping assay using specific probes. Allelic and genotypic associations were evaluated by unconditional linear and logistic regression methods.ResultsThe study provided no evidence of association between the analyzed genetic variants and PCa risk. Nevertheless, allele A of rs784567 was found to confer the reduced risk of higher serum PSA level at diagnosis (P = 0.046; Difference = −66.64, 95 % CI −131.93 to 1.35, for log-additive model). Furthermore, rs4961280, as well as rs3742330, were shown to be associated with GS. These variants, together with rs7813, were found to be associated with the lower clinical stage of PCa. Also, rs3742330 minor allele G was found to be associated with lower PCa aggressiveness (P = 0.036; OR 0.14, 95 % CI 0.023–1.22, for recessive model).ConclusionsAccording to our data, rs3742330, rs4961280 and rs7813 qualify for potentially protective genetic variants against PCa progression. These variants were not shown to be associated with PCa risk.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272496"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272496"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272496; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272496]").text(description); $(".js-view-count[data-work-id=119272496]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272496; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272496']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272496, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=119272496]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272496,"title":"Genetic variants in RNA-induced silencing complex genes and prostate cancer","translated_title":"","metadata":{"abstract":"PurposeThe purpose of this study is to evaluate the potential association between genetic variants in genes encoding the components of RNA-induced silencing complex and prostate cancer (PCa) risk. Genetic variants chosen for this study are rs3742330 in DICER1, rs4961280 in AGO2, rs784567 in TARBP2, rs7813 in GEMIN4 and rs197414 in GEMIN3.MethodsThe study involved 355 PCa patients, 360 patients with benign prostatic hyperplasia and 318 healthy controls. For individuals diagnosed with PCa, clinicopathological characteristics including serum prostate-specific antigen level at diagnosis, Gleason score (GS) and clinical stage were determined. Genotyping was performed using high-resolution melting analysis, PCR–RFLP, TaqMan SNP Genotyping Assay and real-time PCR-based genotyping assay using specific probes. Allelic and genotypic associations were evaluated by unconditional linear and logistic regression methods.ResultsThe study provided no evidence of association between the analyzed genetic variants and PCa risk. Nevertheless, allele A of rs784567 was found to confer the reduced risk of higher serum PSA level at diagnosis (P = 0.046; Difference = −66.64, 95 % CI −131.93 to 1.35, for log-additive model). Furthermore, rs4961280, as well as rs3742330, were shown to be associated with GS. These variants, together with rs7813, were found to be associated with the lower clinical stage of PCa. Also, rs3742330 minor allele G was found to be associated with lower PCa aggressiveness (P = 0.036; OR 0.14, 95 % CI 0.023–1.22, for recessive model).ConclusionsAccording to our data, rs3742330, rs4961280 and rs7813 qualify for potentially protective genetic variants against PCa progression. These variants were not shown to be associated with PCa risk.","publisher":"Springer Science and Business Media LLC","publication_date":{"day":null,"month":null,"year":2016,"errors":{}},"publication_name":"World Journal of Urology"},"translated_abstract":"PurposeThe purpose of this study is to evaluate the potential association between genetic variants in genes encoding the components of RNA-induced silencing complex and prostate cancer (PCa) risk. Genetic variants chosen for this study are rs3742330 in DICER1, rs4961280 in AGO2, rs784567 in TARBP2, rs7813 in GEMIN4 and rs197414 in GEMIN3.MethodsThe study involved 355 PCa patients, 360 patients with benign prostatic hyperplasia and 318 healthy controls. For individuals diagnosed with PCa, clinicopathological characteristics including serum prostate-specific antigen level at diagnosis, Gleason score (GS) and clinical stage were determined. Genotyping was performed using high-resolution melting analysis, PCR–RFLP, TaqMan SNP Genotyping Assay and real-time PCR-based genotyping assay using specific probes. Allelic and genotypic associations were evaluated by unconditional linear and logistic regression methods.ResultsThe study provided no evidence of association between the analyzed genetic variants and PCa risk. Nevertheless, allele A of rs784567 was found to confer the reduced risk of higher serum PSA level at diagnosis (P = 0.046; Difference = −66.64, 95 % CI −131.93 to 1.35, for log-additive model). Furthermore, rs4961280, as well as rs3742330, were shown to be associated with GS. These variants, together with rs7813, were found to be associated with the lower clinical stage of PCa. Also, rs3742330 minor allele G was found to be associated with lower PCa aggressiveness (P = 0.036; OR 0.14, 95 % CI 0.023–1.22, for recessive model).ConclusionsAccording to our data, rs3742330, rs4961280 and rs7813 qualify for potentially protective genetic variants against PCa progression. These variants were not shown to be associated with PCa risk.","internal_url":"https://www.academia.edu/119272496/Genetic_variants_in_RNA_induced_silencing_complex_genes_and_prostate_cancer","translated_internal_url":"","created_at":"2024-05-18T00:53:17.092-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Genetic_variants_in_RNA_induced_silencing_complex_genes_and_prostate_cancer","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[],"research_interests":[{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":486784,"name":"Genotyping","url":"https://www.academia.edu/Documents/in/Genotyping"}],"urls":[{"id":42067622,"url":"http://link.springer.com/content/pdf/10.1007/s00345-016-1917-0.pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> </div><div class="profile--tab_content_container js-tab-pane tab-pane" data-section-id="2252375" id="papers"><div class="js-work-strip profile--work_container" data-work-id="119272518"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272518/Association_of_PRMT6_PEX10_and_SOX5_genetic_variants_with_idiopathic_male_infertility_Evidence_from_North_Macedonian_population_and_an_updated_meta_analysis"><img alt="Research paper thumbnail of Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis" class="work-thumbnail" src="https://attachments.academia-assets.com/114681123/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272518/Association_of_PRMT6_PEX10_and_SOX5_genetic_variants_with_idiopathic_male_infertility_Evidence_from_North_Macedonian_population_and_an_updated_meta_analysis">Association of PRMT6, PEX10 and SOX5 genetic variants with idiopathic male infertility: Evidence from North Macedonian population and an updated meta-analysis</a></div><div class="wp-workCard_item"><span>Genetika</span><span>, 2023</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="a614264cc49ceb22e4520bc215346a7f" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681123,&quot;asset_id&quot;:119272518,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681123/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272518"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272518"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272518; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272518]").text(description); $(".js-view-count[data-work-id=119272518]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272518; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272518']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272518, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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Still, the results of previous case-control studies varied, which could be due to differences in participants' ethnic backgrounds. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272517"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272517/Genetic_basis_of_prostate_cancer_Association_studies"><img alt="Research paper thumbnail of Genetic basis of prostate cancer: Association studies" class="work-thumbnail" src="https://attachments.academia-assets.com/114681118/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272517/Genetic_basis_of_prostate_cancer_Association_studies">Genetic basis of prostate cancer: Association studies</a></div><div class="wp-workCard_item"><span>Zenodo (CERN European Organization for Nuclear Research)</span><span>, Jul 19, 2017</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="c15c5b332e8249c215a86c21b8bd48bb" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681118,&quot;asset_id&quot;:119272517,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681118/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272517"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272517"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272517; 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This paper reviews the results of previous work of the study group PROSTATSERBIA. In the candidate gene association study at the beginning of our research, we tested the association between several single nucleotide polymorphisms (SNPs) in the NOS3 gene and PCa risk and/or progression. In a population-based case-control study, we explored the possible association between PCa risk and seven SNPs identified by genome-wide association analyses (GWASs) in two chromosomal regions (8q24 and 17q12). 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272516"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272516/_In_vivo_study_of_spontaneous_and_therapy_induced_apoptosis_in_patients_with_chronic_lymphocytic_leukemia_treated_with_chlorambucil_"><img alt="Research paper thumbnail of [In vivo study of spontaneous and therapy-induced apoptosis in patients with chronic lymphocytic leukemia treated with chlorambucil]" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272516/_In_vivo_study_of_spontaneous_and_therapy_induced_apoptosis_in_patients_with_chronic_lymphocytic_leukemia_treated_with_chlorambucil_">[In vivo study of spontaneous and therapy-induced apoptosis in patients with chronic lymphocytic leukemia treated with chlorambucil]</a></div><div class="wp-workCard_item"><span>PubMed</span><span>, Oct 21, 1999</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">The efficiency of Chlorambucil in the induction of apoptosis was investigated in the study, and m...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">The efficiency of Chlorambucil in the induction of apoptosis was investigated in the study, and measurable apoptosis parameters were compared to the other prognostic factors with the aim of possible prediction of clinical response to the therapy in the patients with CD5 + B-cell chronic lymphocytic leukemia (B-CLL). Seven newly diagnosed patients, initially treated with daily high-doses of Chlorambucil (HD-CLB) were analyzed. Quantitative analysis of apoptosis parameters on semi-fine sections obtained from peripheral blood was performed prior and during the first five days of therapy. The level of spontaneous apoptosis (SA) was determined, as well as the maximal response by apoptosis (MAR), and the time needed to establish maximal response by apoptosis (TMAR), respectively. The results revealed that the level of SA in the studied group of patients was 11.39%-20.50%. In three patients with achieved criteria for complete remission (CR) was observed high level of SA, TMAR 2-4 days and MAR 23.42-26.36%, respectively. All patients with CR were with negative LDT, non-diffuse involvement of bone marrow and clinical stage B. Criteria for partial remission (PR) were achieved in 4 patients. Within this group, all three measurable parameters of apoptosis could have been determined in only one patient, while in the rest was noticed the increased percentage of apoptotic cells on the last day of follow-up. In all patients was observed negative LDT, diffuse bone marrow involvement, and 2 out of 4 patients had CLPL of cytomorphological type and clinical stage B. By comparing the obtained values of measurable apoptotic parameters with the clinical response to the applied therapy with HD-CLB, it is possible to divide our patients into two groups: patients who have achieved CR have the highest percentage of cells dying due to the therapy-induced apoptosis, as well as the higher values of measurable parameters compared to the certain parameters of the patients with the criteria for PR. Our preliminary results of therapeutic response to the apoptosis might be useful for the timely decision upon the duration of therapy and change of modality of treatment for every patient during the follow-up period.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272516"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272516"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272516; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272516]").text(description); $(".js-view-count[data-work-id=119272516]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272516; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272516']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272516, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=119272516]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272516,"title":"[In vivo study of spontaneous and therapy-induced apoptosis in patients with chronic lymphocytic leukemia treated with chlorambucil]","translated_title":"","metadata":{"abstract":"The efficiency of Chlorambucil in the induction of apoptosis was investigated in the study, and measurable apoptosis parameters were compared to the other prognostic factors with the aim of possible prediction of clinical response to the therapy in the patients with CD5 + B-cell chronic lymphocytic leukemia (B-CLL). Seven newly diagnosed patients, initially treated with daily high-doses of Chlorambucil (HD-CLB) were analyzed. Quantitative analysis of apoptosis parameters on semi-fine sections obtained from peripheral blood was performed prior and during the first five days of therapy. The level of spontaneous apoptosis (SA) was determined, as well as the maximal response by apoptosis (MAR), and the time needed to establish maximal response by apoptosis (TMAR), respectively. The results revealed that the level of SA in the studied group of patients was 11.39%-20.50%. In three patients with achieved criteria for complete remission (CR) was observed high level of SA, TMAR 2-4 days and MAR 23.42-26.36%, respectively. All patients with CR were with negative LDT, non-diffuse involvement of bone marrow and clinical stage B. Criteria for partial remission (PR) were achieved in 4 patients. Within this group, all three measurable parameters of apoptosis could have been determined in only one patient, while in the rest was noticed the increased percentage of apoptotic cells on the last day of follow-up. In all patients was observed negative LDT, diffuse bone marrow involvement, and 2 out of 4 patients had CLPL of cytomorphological type and clinical stage B. By comparing the obtained values of measurable apoptotic parameters with the clinical response to the applied therapy with HD-CLB, it is possible to divide our patients into two groups: patients who have achieved CR have the highest percentage of cells dying due to the therapy-induced apoptosis, as well as the higher values of measurable parameters compared to the certain parameters of the patients with the criteria for PR. Our preliminary results of therapeutic response to the apoptosis might be useful for the timely decision upon the duration of therapy and change of modality of treatment for every patient during the follow-up period.","publication_date":{"day":21,"month":10,"year":1999,"errors":{}},"publication_name":"PubMed"},"translated_abstract":"The efficiency of Chlorambucil in the induction of apoptosis was investigated in the study, and measurable apoptosis parameters were compared to the other prognostic factors with the aim of possible prediction of clinical response to the therapy in the patients with CD5 + B-cell chronic lymphocytic leukemia (B-CLL). Seven newly diagnosed patients, initially treated with daily high-doses of Chlorambucil (HD-CLB) were analyzed. Quantitative analysis of apoptosis parameters on semi-fine sections obtained from peripheral blood was performed prior and during the first five days of therapy. The level of spontaneous apoptosis (SA) was determined, as well as the maximal response by apoptosis (MAR), and the time needed to establish maximal response by apoptosis (TMAR), respectively. The results revealed that the level of SA in the studied group of patients was 11.39%-20.50%. In three patients with achieved criteria for complete remission (CR) was observed high level of SA, TMAR 2-4 days and MAR 23.42-26.36%, respectively. All patients with CR were with negative LDT, non-diffuse involvement of bone marrow and clinical stage B. Criteria for partial remission (PR) were achieved in 4 patients. Within this group, all three measurable parameters of apoptosis could have been determined in only one patient, while in the rest was noticed the increased percentage of apoptotic cells on the last day of follow-up. In all patients was observed negative LDT, diffuse bone marrow involvement, and 2 out of 4 patients had CLPL of cytomorphological type and clinical stage B. By comparing the obtained values of measurable apoptotic parameters with the clinical response to the applied therapy with HD-CLB, it is possible to divide our patients into two groups: patients who have achieved CR have the highest percentage of cells dying due to the therapy-induced apoptosis, as well as the higher values of measurable parameters compared to the certain parameters of the patients with the criteria for PR. Our preliminary results of therapeutic response to the apoptosis might be useful for the timely decision upon the duration of therapy and change of modality of treatment for every patient during the follow-up period.","internal_url":"https://www.academia.edu/119272516/_In_vivo_study_of_spontaneous_and_therapy_induced_apoptosis_in_patients_with_chronic_lymphocytic_leukemia_treated_with_chlorambucil_","translated_internal_url":"","created_at":"2024-05-18T00:53:25.231-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"_In_vivo_study_of_spontaneous_and_therapy_induced_apoptosis_in_patients_with_chronic_lymphocytic_leukemia_treated_with_chlorambucil_","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[],"research_interests":[{"id":3274,"name":"Gastroenterology","url":"https://www.academia.edu/Documents/in/Gastroenterology"},{"id":14109,"name":"Leukemia","url":"https://www.academia.edu/Documents/in/Leukemia"},{"id":24731,"name":"Apoptosis","url":"https://www.academia.edu/Documents/in/Apoptosis"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":65390,"name":"Internal Medicine","url":"https://www.academia.edu/Documents/in/Internal_Medicine"},{"id":82976,"name":"Chronic Lymphocytic Leukemia","url":"https://www.academia.edu/Documents/in/Chronic_Lymphocytic_Leukemia"},{"id":98939,"name":"Pubmed","url":"https://www.academia.edu/Documents/in/Pubmed"},{"id":159239,"name":"Bone marrow","url":"https://www.academia.edu/Documents/in/Bone_marrow"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged"},{"id":489727,"name":"Prognosis","url":"https://www.academia.edu/Documents/in/Prognosis"},{"id":2058640,"name":"Chlorambucil","url":"https://www.academia.edu/Documents/in/Chlorambucil"}],"urls":[{"id":42067638,"url":"https://pubmed.ncbi.nlm.nih.gov/10528523"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272515"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272515/Association_between_genetic_variants_in_DICER1_and_cancer_risk_An_updated_meta_analysis"><img alt="Research paper thumbnail of Association between genetic variants in DICER1 and cancer risk: An updated meta-analysis" class="work-thumbnail" src="https://attachments.academia-assets.com/114681178/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272515/Association_between_genetic_variants_in_DICER1_and_cancer_risk_An_updated_meta_analysis">Association between genetic variants in DICER1 and cancer risk: An updated meta-analysis</a></div><div class="wp-workCard_item"><span>Gene</span><span>, 2021</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="ce23a19636ca439f7d1ff18be4d4086d" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681178,&quot;asset_id&quot;:119272515,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681178/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272515"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272515"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272515; 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Therefore, as one of the crucial components of the machinery involved in the biogenesis of both siRNAs and microRNA molecules, DICER was recognized as one of the candidates for the research in the field of carcinogenesis. Due to their potential functional properties, several genetic variants located within DICER1 gene were analyzed for their possible association with the susceptibility to cancer through case-control studies. In order to elucidate their effect on the overall cancer risk, we conducted an updated meta-analysis of all eligible association studies. The publications were selected based on PubMed database search, while OpenMeta-analyst and MetaGenyo software were used for quantitative data synthesis. Statistically significant results were found for the association of rs1057035 with the overall cancer risk under multiple genetic models (P CT vs. TT \u003c 0.001, OR CT vs. TT = 0.870, 95% CI = 0.812-0.933; P allelic = 0.009, OR allelic = 0.896, 95% CI = 0.825-0.973; P dom \u003c 0.001, OR dom = 0.874, 95% CI = 0.817-0.934; P overdom = 0.004, OR overdom = 0.858, 95% CI = 0.773-0.953). Other selected genetic variants within DICER1, rs13078, rs1209904 and rs3742330, did not show the association with the overall susceptibility to malignant diseases. We conclude that rs1057035 may represent a potential biomarker associated with the risk of developing cancer, which requires a confirmation in a larger set of studies.","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Gene","grobid_abstract_attachment_id":114681178},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272515/Association_between_genetic_variants_in_DICER1_and_cancer_risk_An_updated_meta_analysis","translated_internal_url":"","created_at":"2024-05-18T00:53:24.806-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681178,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681178/thumbnails/1.jpg","file_name":"j.gene.2020.14513220240518-1-no9xw8.pdf","download_url":"https://www.academia.edu/attachments/114681178/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_between_genetic_variants_in.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681178/j.gene.2020.14513220240518-1-no9xw8-libre.pdf?1716022248=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_between_genetic_variants_in.pdf\u0026Expires=1732732854\u0026Signature=QGtuGHLePXtO-vju66o-1f8IzeNfGWxXjuyAOQxVA8JmWVJY96k3ZwB97kuWjC3ourFR~NMUh3UdhwngYx7H3i4ljZ~aZZo32bwOPHuCaUd4pavAt30mbIygVWqzT39D6MbgtDBdhv~gO0JICA4m3nygKskIob5DZbzyyT3RE3jiaSM-lQvd0Ks6BGEacDidYnn26iTJHWScUO-Kw0RMtdWw7~dI5m~hcQoc5Bw2g74eTooqjzNmpqbVU4qY1FdJymkCxWRHmjH90wUCKGHqh-YTx5Mic8SRD9PLI8TU6KN75oKntbr2zEbsINJa7yM92fWGI74PKQO7kDWJtSTE6A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Association_between_genetic_variants_in_DICER1_and_cancer_risk_An_updated_meta_analysis","translated_slug":"","page_count":13,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681178,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681178/thumbnails/1.jpg","file_name":"j.gene.2020.14513220240518-1-no9xw8.pdf","download_url":"https://www.academia.edu/attachments/114681178/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_between_genetic_variants_in.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681178/j.gene.2020.14513220240518-1-no9xw8-libre.pdf?1716022248=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_between_genetic_variants_in.pdf\u0026Expires=1732732854\u0026Signature=QGtuGHLePXtO-vju66o-1f8IzeNfGWxXjuyAOQxVA8JmWVJY96k3ZwB97kuWjC3ourFR~NMUh3UdhwngYx7H3i4ljZ~aZZo32bwOPHuCaUd4pavAt30mbIygVWqzT39D6MbgtDBdhv~gO0JICA4m3nygKskIob5DZbzyyT3RE3jiaSM-lQvd0Ks6BGEacDidYnn26iTJHWScUO-Kw0RMtdWw7~dI5m~hcQoc5Bw2g74eTooqjzNmpqbVU4qY1FdJymkCxWRHmjH90wUCKGHqh-YTx5Mic8SRD9PLI8TU6KN75oKntbr2zEbsINJa7yM92fWGI74PKQO7kDWJtSTE6A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":5490,"name":"MicroRNA","url":"https://www.academia.edu/Documents/in/MicroRNA"},{"id":6021,"name":"Cancer","url":"https://www.academia.edu/Documents/in/Cancer"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":218206,"name":"Meta Analysis","url":"https://www.academia.edu/Documents/in/Meta_Analysis"},{"id":340262,"name":"Carcinogenesis","url":"https://www.academia.edu/Documents/in/Carcinogenesis"}],"urls":[{"id":42067637,"url":"https://doi.org/10.1016/j.gene.2020.145132"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272513"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272513/Association_between_genetic_variants_in_genes_encoding_Argonaute_proteins_and_cancer_risk_A_meta_analysis"><img alt="Research paper thumbnail of Association between genetic variants in genes encoding Argonaute proteins and cancer risk: A meta-analysis" class="work-thumbnail" src="https://attachments.academia-assets.com/114681172/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272513/Association_between_genetic_variants_in_genes_encoding_Argonaute_proteins_and_cancer_risk_A_meta_analysis">Association between genetic variants in genes encoding Argonaute proteins and cancer risk: A meta-analysis</a></div><div class="wp-workCard_item"><span>Pathology Research and Practice</span><span>, May 1, 2020</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2f8ec5ffb394600d053a1583135a6b85" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681172,&quot;asset_id&quot;:119272513,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681172/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272513"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272513"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272513; 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This version will undergo additional copyediting, typesetting and review before it is published in its final form, but we are providing this version to give early visibility of the article. Please note that, during the production process, errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain.","publication_date":{"day":1,"month":5,"year":2020,"errors":{}},"publication_name":"Pathology Research and Practice","grobid_abstract_attachment_id":114681172},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272513/Association_between_genetic_variants_in_genes_encoding_Argonaute_proteins_and_cancer_risk_A_meta_analysis","translated_internal_url":"","created_at":"2024-05-18T00:53:24.243-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681172,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681172/thumbnails/1.jpg","file_name":"j.prp.2020.15290620240518-1-v4qct1.pdf","download_url":"https://www.academia.edu/attachments/114681172/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_between_genetic_variants_in.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681172/j.prp.2020.15290620240518-1-v4qct1-libre.pdf?1716022256=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_between_genetic_variants_in.pdf\u0026Expires=1732732854\u0026Signature=cjy14xTrmkZyeIPS1RmaNNiR-pgy-n47hUEnX2RhSQ2V6XIz65bdiOIzHM65ZyCgAGGUfnI914rVcRk5yrfHcVe3vIIx5NdGchVPpBpXBysHd2rodRcmefBZM4K9k-vXpccZyHg4aDPuteY48o-idfey2HguknKCMk05igZEOMT4gmDx306WJwosdQccNgQLqxgErsHJiwKwtMc6Kdvm9xEmi6~6i41ADjmChTn1Rg1J6f1jsxRczdS~oB13OLDx55iMmiaK5uOEg--AflDoN9i3UN9F0LOQqsBKHQ3JSgKgmAnRY-vPWwgcrBkkwkZ1qcChlz-v3t2UqHI-~nLGHA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Association_between_genetic_variants_in_genes_encoding_Argonaute_proteins_and_cancer_risk_A_meta_analysis","translated_slug":"","page_count":32,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681172,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681172/thumbnails/1.jpg","file_name":"j.prp.2020.15290620240518-1-v4qct1.pdf","download_url":"https://www.academia.edu/attachments/114681172/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_between_genetic_variants_in.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681172/j.prp.2020.15290620240518-1-v4qct1-libre.pdf?1716022256=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_between_genetic_variants_in.pdf\u0026Expires=1732732854\u0026Signature=cjy14xTrmkZyeIPS1RmaNNiR-pgy-n47hUEnX2RhSQ2V6XIz65bdiOIzHM65ZyCgAGGUfnI914rVcRk5yrfHcVe3vIIx5NdGchVPpBpXBysHd2rodRcmefBZM4K9k-vXpccZyHg4aDPuteY48o-idfey2HguknKCMk05igZEOMT4gmDx306WJwosdQccNgQLqxgErsHJiwKwtMc6Kdvm9xEmi6~6i41ADjmChTn1Rg1J6f1jsxRczdS~oB13OLDx55iMmiaK5uOEg--AflDoN9i3UN9F0LOQqsBKHQ3JSgKgmAnRY-vPWwgcrBkkwkZ1qcChlz-v3t2UqHI-~nLGHA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":6021,"name":"Cancer","url":"https://www.academia.edu/Documents/in/Cancer"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":181936,"name":"Gene","url":"https://www.academia.edu/Documents/in/Gene"},{"id":218206,"name":"Meta Analysis","url":"https://www.academia.edu/Documents/in/Meta_Analysis"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":340262,"name":"Carcinogenesis","url":"https://www.academia.edu/Documents/in/Carcinogenesis"}],"urls":[{"id":42067635,"url":"https://doi.org/10.1016/j.prp.2020.152906"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272512"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272512/Analysis_of_association_of_potentially_functional_genetic_variants_within_genes_encoding_miR_34b_c_miR_378_and_miR_143_145_with_prostate_cancer_in_Serbian_population"><img alt="Research paper thumbnail of Analysis of association of potentially functional genetic variants within genes encoding miR-34b/c, miR-378 and miR-143/145 with prostate cancer in Serbian population" class="work-thumbnail" src="https://attachments.academia-assets.com/114681173/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272512/Analysis_of_association_of_potentially_functional_genetic_variants_within_genes_encoding_miR_34b_c_miR_378_and_miR_143_145_with_prostate_cancer_in_Serbian_population">Analysis of association of potentially functional genetic variants within genes encoding miR-34b/c, miR-378 and miR-143/145 with prostate cancer in Serbian population</a></div><div class="wp-workCard_item"><span>PubMed</span><span>, 2019</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">MiRNA-associated genetic variants occurring in regulatory regions can affect the efficiency of tr...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">MiRNA-associated genetic variants occurring in regulatory regions can affect the efficiency of transcription and potentially modify pri-miRNA or pre-miRNA processing. Since miRNA-based mechanisms are shown to be involved in the pathogenesis of prostate cancer (PCa), the aim of the present study was to evaluate the effect of rs4938723, rs1076064 and rs4705343 occurring in regulatory regions of miR-34b/c, miR-143/145 and miR-378, respectively, on PCa risk and progression in Serbian population. We examined a total of 1060 subjects, of which 350 were patients with PCa, 354 were patients with benign prostatic hyperplasia (BPH), while 356 healthy volunteers were included in the control group. Genotyping of rs4938723, rs1076064 and rs4705343 was performed by using Taqman® SNP Genotyping Assays. Allele C of rs4705342 was found to increase the risk of PCa (P=0.031 for codominant model, P=0.0088 for recessive model). Rs1076064 minor allele G was found to associate with serum PSA score, as well as with PCa T category and disease aggressiveness. For rs4938723 minor allele C was shown to be associated with the lower PCa T category (Pdom=0.0046; OR=0.36, 95 % CI 0.17-0.76) in T2 vs. T1 comparison. Rs4705342 was identified as PCa susceptibility variant in Serbian population, while for rs1076064 and rs4938723 association with PCa progression parameters was found.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="1e8eb140e7f67bd41005c04b9b347f93" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681173,&quot;asset_id&quot;:119272512,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681173/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272512"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272512"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272512; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272512]").text(description); $(".js-view-count[data-work-id=119272512]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272512; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272512']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272512, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "1e8eb140e7f67bd41005c04b9b347f93" } } $('.js-work-strip[data-work-id=119272512]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272512,"title":"Analysis of association of potentially functional genetic variants within genes encoding miR-34b/c, miR-378 and miR-143/145 with prostate cancer in Serbian population","translated_title":"","metadata":{"abstract":"MiRNA-associated genetic variants occurring in regulatory regions can affect the efficiency of transcription and potentially modify pri-miRNA or pre-miRNA processing. 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We examined a total of 1060 subjects, of which 350 were patients with PCa, 354 were patients with benign prostatic hyperplasia (BPH), while 356 healthy volunteers were included in the control group. Genotyping of rs4938723, rs1076064 and rs4705343 was performed by using Taqman® SNP Genotyping Assays. Allele C of rs4705342 was found to increase the risk of PCa (P=0.031 for codominant model, P=0.0088 for recessive model). Rs1076064 minor allele G was found to associate with serum PSA score, as well as with PCa T category and disease aggressiveness. For rs4938723 minor allele C was shown to be associated with the lower PCa T category (Pdom=0.0046; OR=0.36, 95 % CI 0.17-0.76) in T2 vs. T1 comparison. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272511"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272511/Repeat_Interruptions_Modify_Age_at_Onset_in_Myotonic_Dystrophy_Type_1_by_Stabilizing_DMPK_Expansions_in_Somatic_Cells"><img alt="Research paper thumbnail of Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells" class="work-thumbnail" src="https://attachments.academia-assets.com/114681175/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272511/Repeat_Interruptions_Modify_Age_at_Onset_in_Myotonic_Dystrophy_Type_1_by_Stabilizing_DMPK_Expansions_in_Somatic_Cells">Repeat Interruptions Modify Age at Onset in Myotonic Dystrophy Type 1 by Stabilizing DMPK Expansions in Somatic Cells</a></div><div class="wp-workCard_item"><span>Frontiers in Genetics</span><span>, Nov 27, 2018</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="716c7213d8c522e64f1b20ad882ae243" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681175,&quot;asset_id&quot;:119272511,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681175/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272511"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272511"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272511; 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A large proportion of variability of somatic instability is explained by expansion size and patient's age at sampling, while individual-specific differences are attributed to additional factors. The age at onset is extremely variable in DM1, and inversely correlates with the expansion size and individual-specific differences in somatic instability. Three to five percent of DM1 patients carry repeat interruptions and some appear with later age at onset than expected for corresponding expansion size. Herein, we characterized somatic instability of interrupted DMPK expansions and the effect on age at onset in our previously described patients. Repeat-primed PCR showed stable structures of different types and patterns of repeat interruptions in blood cells over time and buccal cells. Single-molecule small-pool PCR quantification of somatic instability and mathematical modeling showed that interrupted expansions were characterized by lower level of somatic instability accompanied by slower progression over time. Mathematical modeling demonstrated that individual-specific differences in somatic instability had greater influence on age at onset in patients with interrupted expansions. Therefore, repeat interruptions have clinical importance for disease course in DM1 patients due to stabilizing effect on DMPK expansions in somatic cells.","publication_date":{"day":27,"month":11,"year":2018,"errors":{}},"publication_name":"Frontiers in Genetics","grobid_abstract_attachment_id":114681175},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272511/Repeat_Interruptions_Modify_Age_at_Onset_in_Myotonic_Dystrophy_Type_1_by_Stabilizing_DMPK_Expansions_in_Somatic_Cells","translated_internal_url":"","created_at":"2024-05-18T00:53:23.405-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681175,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681175/thumbnails/1.jpg","file_name":"417fbf05ae58faae41976e0f8df44fd70b17.pdf","download_url":"https://www.academia.edu/attachments/114681175/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Repeat_Interruptions_Modify_Age_at_Onset.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681175/417fbf05ae58faae41976e0f8df44fd70b17-libre.pdf?1716022257=\u0026response-content-disposition=attachment%3B+filename%3DRepeat_Interruptions_Modify_Age_at_Onset.pdf\u0026Expires=1732732854\u0026Signature=gZ4xjJR23p9yCtmDNbpOokiv6njqXhNf3M7eNYmGD7mCYjK8HffkmaQXqwqziomvOOOxVwZjdMl984W10hI6hakLkdzRqJKm2dTBeDxiFy390bfOz-mcxCpBO8yGBdoBokO5fiDthXfpAD3K4MJFMlNEIczVRSrrAiz9qEtD6w3Q5aVKK0oVa295N4-8YWR2NelQJ5JcAatwju5BUdYFy8X76thcvoZWfX9KgU0DHehgI7pxtDCfZCAUQFMw3mLlHfzc0wKv1lQeEcKpTD8ZanCTgWFBtZRRrz4NAnVmOgiU9FfoDyLX9owNMAVsRv0BRT4rQzQm5RfCLlOVTaaV8Q__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Repeat_Interruptions_Modify_Age_at_Onset_in_Myotonic_Dystrophy_Type_1_by_Stabilizing_DMPK_Expansions_in_Somatic_Cells","translated_slug":"","page_count":14,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681175,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681175/thumbnails/1.jpg","file_name":"417fbf05ae58faae41976e0f8df44fd70b17.pdf","download_url":"https://www.academia.edu/attachments/114681175/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Repeat_Interruptions_Modify_Age_at_Onset.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681175/417fbf05ae58faae41976e0f8df44fd70b17-libre.pdf?1716022257=\u0026response-content-disposition=attachment%3B+filename%3DRepeat_Interruptions_Modify_Age_at_Onset.pdf\u0026Expires=1732732854\u0026Signature=gZ4xjJR23p9yCtmDNbpOokiv6njqXhNf3M7eNYmGD7mCYjK8HffkmaQXqwqziomvOOOxVwZjdMl984W10hI6hakLkdzRqJKm2dTBeDxiFy390bfOz-mcxCpBO8yGBdoBokO5fiDthXfpAD3K4MJFMlNEIczVRSrrAiz9qEtD6w3Q5aVKK0oVa295N4-8YWR2NelQJ5JcAatwju5BUdYFy8X76thcvoZWfX9KgU0DHehgI7pxtDCfZCAUQFMw3mLlHfzc0wKv1lQeEcKpTD8ZanCTgWFBtZRRrz4NAnVmOgiU9FfoDyLX9owNMAVsRv0BRT4rQzQm5RfCLlOVTaaV8Q__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":141786,"name":"Myotonic Dystrophy","url":"https://www.academia.edu/Documents/in/Myotonic_Dystrophy"},{"id":956026,"name":"Somatic Cell Count","url":"https://www.academia.edu/Documents/in/Somatic_Cell_Count"}],"urls":[{"id":42067633,"url":"https://doi.org/10.3389/fgene.2018.00601"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272510"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272510/Genetic_Association_Studies_on_Prostate_Cancer"><img alt="Research paper thumbnail of Genetic Association Studies on Prostate Cancer" class="work-thumbnail" src="https://attachments.academia-assets.com/114681174/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272510/Genetic_Association_Studies_on_Prostate_Cancer">Genetic Association Studies on Prostate Cancer</a></div><div class="wp-workCard_item"><span>InTech eBooks</span><span>, Sep 28, 2016</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="aad9635132a9fc8790dc27506fbaf2dc" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681174,&quot;asset_id&quot;:119272510,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681174/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272510"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272510"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272510; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "aad9635132a9fc8790dc27506fbaf2dc" } } $('.js-work-strip[data-work-id=119272510]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272510,"title":"Genetic Association Studies on Prostate Cancer","translated_title":"","metadata":{"publisher":"InTech","grobid_abstract":"The modern research on molecular basis of prostate cancer (PCa) development includes studies aiming to identify potential genetic markers which could be used in diagnostics and/or monitoring of PCa. Genome-wide association studies (GWASs) have identified over 75 variants associated with PCa risk. One of the major PCarelated regions identified through GWASs is found to be a segment of 8q24. Other important PCa-susceptibility regions are 17q12, 17q24, 10q11, and 19q13. Candidategene based approach has also provided evidence of association between PCa risk and genetic variants located in functionally significant genes (both protein-coding and noncoding RNA genes) involved in normal prostatic cell growth, malignant transformation, or in the development of metastases. Nevertheless, the success of these studies is questionable, since numerous candidates for PCa-susceptibility variants were identified, but these results failed to replicate. The main aim of both types of genetic association studies on PCa is the identification of potential PCa genetic markers which could be used for constructing reliable algorithms for evaluating the risk for PCa development and/or PCa progression.","publication_date":{"day":28,"month":9,"year":2016,"errors":{}},"publication_name":"InTech eBooks","grobid_abstract_attachment_id":114681174},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272510/Genetic_Association_Studies_on_Prostate_Cancer","translated_internal_url":"","created_at":"2024-05-18T00:53:22.925-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681174,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681174/thumbnails/1.jpg","file_name":"956ba4c8b1c8c174caed32786dc5ee0652c7.pdf","download_url":"https://www.academia.edu/attachments/114681174/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Genetic_Association_Studies_on_Prostate.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681174/956ba4c8b1c8c174caed32786dc5ee0652c7-libre.pdf?1716022286=\u0026response-content-disposition=attachment%3B+filename%3DGenetic_Association_Studies_on_Prostate.pdf\u0026Expires=1732732854\u0026Signature=BUKBhiIiTM30gY-wx6hvFxVLLD79L86C8Z8-4TIwABiRgrwIWMLRsLc4kyJ8PKOIhKh75zMP7RjbImVq~GkA0lC22eKe4joV17my3iRwiXSgJKF-MH9JnfzOd-bipOMnXGBjoFd2qJ926YhhGhwAZMvXRQNU3itMsj91~0PEhyyRgZmQE3vmxS6Ie5hth4c4u8HKena7SA0hP2hvUcb1cmacLRpgOZmVLUZuJx0gcSyxibqd1qCMCKcf1zpUsLz2owyT04NsyVmYK8tFcQkWJJ1LVCNoHeKLj-ixRYNwXI9dvrLK8Lxy8stmNobl1J4727~p5sictOeuWZCONrYbDA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Genetic_Association_Studies_on_Prostate_Cancer","translated_slug":"","page_count":35,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681174,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681174/thumbnails/1.jpg","file_name":"956ba4c8b1c8c174caed32786dc5ee0652c7.pdf","download_url":"https://www.academia.edu/attachments/114681174/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Genetic_Association_Studies_on_Prostate.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681174/956ba4c8b1c8c174caed32786dc5ee0652c7-libre.pdf?1716022286=\u0026response-content-disposition=attachment%3B+filename%3DGenetic_Association_Studies_on_Prostate.pdf\u0026Expires=1732732854\u0026Signature=BUKBhiIiTM30gY-wx6hvFxVLLD79L86C8Z8-4TIwABiRgrwIWMLRsLc4kyJ8PKOIhKh75zMP7RjbImVq~GkA0lC22eKe4joV17my3iRwiXSgJKF-MH9JnfzOd-bipOMnXGBjoFd2qJ926YhhGhwAZMvXRQNU3itMsj91~0PEhyyRgZmQE3vmxS6Ie5hth4c4u8HKena7SA0hP2hvUcb1cmacLRpgOZmVLUZuJx0gcSyxibqd1qCMCKcf1zpUsLz2owyT04NsyVmYK8tFcQkWJJ1LVCNoHeKLj-ixRYNwXI9dvrLK8Lxy8stmNobl1J4727~p5sictOeuWZCONrYbDA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":735504,"name":"Genetic Association","url":"https://www.academia.edu/Documents/in/Genetic_Association"}],"urls":[{"id":42067632,"url":"https://doi.org/10.5772/63280"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272509"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272509/S105_Assessment_of_possible_association_between_genetic_variant_rs895819_in_miR_27a_gene_and_infertility_in_males_diagnosed_with_non_obstructive_azoospermia_NOA_from_Serbian_population"><img alt="Research paper thumbnail of S105: Assessment of possible association between genetic variant rs895819 in miR-27a gene and infertility in males diagnosed with non-obstructive azoospermia (NOA) from Serbian population" class="work-thumbnail" src="https://attachments.academia-assets.com/114681164/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272509/S105_Assessment_of_possible_association_between_genetic_variant_rs895819_in_miR_27a_gene_and_infertility_in_males_diagnosed_with_non_obstructive_azoospermia_NOA_from_Serbian_population">S105: Assessment of possible association between genetic variant rs895819 in miR-27a gene and infertility in males diagnosed with non-obstructive azoospermia (NOA) from Serbian population</a></div><div class="wp-workCard_item"><span>European Urology Supplements</span><span>, Nov 1, 2014</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="9c8aeee86e5c52b020d0485f015de1ec" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681164,&quot;asset_id&quot;:119272509,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681164/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272509"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272509"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272509; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272509]").text(description); $(".js-view-count[data-work-id=119272509]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272509; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272509']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272509, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "9c8aeee86e5c52b020d0485f015de1ec" } } $('.js-work-strip[data-work-id=119272509]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272509,"title":"S105: Assessment of possible association between genetic variant rs895819 in miR-27a gene and infertility in males diagnosed with non-obstructive azoospermia (NOA) from Serbian population","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"INTRODUCTION \u0026 OBJECTIVES: Despite significant improvement in the male infertility diagnostic procedures, its etiology remains unknown in more than half of cases. Idiopathic non-obstructive azoospermia (NOA) is diagnosed in infertile men who suffer from impaired spermatogenesis of unknown cause, accompanied by reduced number of spermatozoa in ejaculate. Experimental studies based on results of microarray analysis confirmed that RNA interference has important role in spermatogenesis, thus seminal microRNAs (miRNAs) could be used as potential biomarkers for male infertility. Furthermore, genetic variants affecting biogenesis and/or function of these microRNA could be associated with the increased risk of male infertility. Given that miR-27a was found to be underexperssed in abnormal semen of men diagnosed with NOA, the aim of this study was to evaluate possible association between potentially functional genetic variant rs895819 in miR-27a and infertility in males diagnosed with NOA from Serbian population. MATERIAL \u0026 METHODS: This study included 81 men with idiopathic NOA and 93 fertile men used as controls. Genomic DNA was extracted from buccal swabs using commercial kits for DNA isolation. Genotypes for genetic variant in miR-27a gene were determined by allele-specific Polymerase Chain Reaction using self-designed oligonucleotide primers and self-optimized genotyping protocol. Genotyping data were processed using statistical program SNPstats. The exact test implemented in this software was used to assess potential deviation from Hardy-Weinberg equilibrium in control group. Using statistical tests based on logistic regression we examined differences in genotype distributions between infertile males and fertile controls. Association between alleles and genotypes of rs895819 and infertility in males with NOA was tested using five genetic models (Codominant, Dominant, Recessive, Overdominant, Log-additive). RESULTS: In our study, no evidence of association between rs895819 in miR-27a gene and infertility in males with NOA was found under all five genetic models tested. The least P value was obtained for dominant genetic model, which still did not reach the statistical significance, nor the statistical trend of significance (0.1\u003eP\u003e0.05) (OR=1.05; 95% CI 0.57-1.92; P=0.88). CONCLUSIONS: The results obtained in this study did not support the association between genetic variant rs895819 in miR-27a gene and infertility in males diagnosed with NOA.","publication_date":{"day":1,"month":11,"year":2014,"errors":{}},"publication_name":"European Urology Supplements","grobid_abstract_attachment_id":114681164},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272509/S105_Assessment_of_possible_association_between_genetic_variant_rs895819_in_miR_27a_gene_and_infertility_in_males_diagnosed_with_non_obstructive_azoospermia_NOA_from_Serbian_population","translated_internal_url":"","created_at":"2024-05-18T00:53:22.525-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681164,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681164/thumbnails/1.jpg","file_name":"S1569-905628142961676-620240518-1-1t3zz8.pdf","download_url":"https://www.academia.edu/attachments/114681164/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"S105_Assessment_of_possible_association.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681164/S1569-905628142961676-620240518-1-1t3zz8-libre.pdf?1716022244=\u0026response-content-disposition=attachment%3B+filename%3DS105_Assessment_of_possible_association.pdf\u0026Expires=1732732854\u0026Signature=fjwGpzkH65h5eUgbXvv3CbQMfMqMyIMR4Xd2I3CqdZegED5QGJVGJHRVfsrt8-LUBTFPItLILpP4SXXJIE94plQ~xrC1ThjUlTck-T0DuQVawrEXtocpSxwFxco7Ruee25iGxHAkvp-6h9XDkykaV6Ir8-I1dn20I3QfpX4TCZv8dD1KATY6GEEYMBA-EVi2UlAPxi2t5gRcFv7gAzvALtYKF~8~6X0ve5H0ZzsqasaPzwbw4ZjRW3NYtchS2lc4yYsZJbS5kysyWTLJLE9z5pSwN~qNYpD2cUzCWXtpz5ahtjtsX7jx8fJRTdf0bS9gz9X~HHhJXcFVlYKX1Pkpgg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"S105_Assessment_of_possible_association_between_genetic_variant_rs895819_in_miR_27a_gene_and_infertility_in_males_diagnosed_with_non_obstructive_azoospermia_NOA_from_Serbian_population","translated_slug":"","page_count":1,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681164,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681164/thumbnails/1.jpg","file_name":"S1569-905628142961676-620240518-1-1t3zz8.pdf","download_url":"https://www.academia.edu/attachments/114681164/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"S105_Assessment_of_possible_association.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681164/S1569-905628142961676-620240518-1-1t3zz8-libre.pdf?1716022244=\u0026response-content-disposition=attachment%3B+filename%3DS105_Assessment_of_possible_association.pdf\u0026Expires=1732732854\u0026Signature=fjwGpzkH65h5eUgbXvv3CbQMfMqMyIMR4Xd2I3CqdZegED5QGJVGJHRVfsrt8-LUBTFPItLILpP4SXXJIE94plQ~xrC1ThjUlTck-T0DuQVawrEXtocpSxwFxco7Ruee25iGxHAkvp-6h9XDkykaV6Ir8-I1dn20I3QfpX4TCZv8dD1KATY6GEEYMBA-EVi2UlAPxi2t5gRcFv7gAzvALtYKF~8~6X0ve5H0ZzsqasaPzwbw4ZjRW3NYtchS2lc4yYsZJbS5kysyWTLJLE9z5pSwN~qNYpD2cUzCWXtpz5ahtjtsX7jx8fJRTdf0bS9gz9X~HHhJXcFVlYKX1Pkpgg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":6126,"name":"Serbian","url":"https://www.academia.edu/Documents/in/Serbian"},{"id":20317,"name":"Infertility","url":"https://www.academia.edu/Documents/in/Infertility"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":64336,"name":"Population","url":"https://www.academia.edu/Documents/in/Population"},{"id":178928,"name":"Male Infertility","url":"https://www.academia.edu/Documents/in/Male_Infertility"},{"id":208557,"name":"Azoospermia","url":"https://www.academia.edu/Documents/in/Azoospermia"},{"id":339107,"name":"Gynecology","url":"https://www.academia.edu/Documents/in/Gynecology"}],"urls":[{"id":42067631,"url":"https://doi.org/10.1016/s1569-9056(14)61676-6"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272508"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272508/Molecular_genetic_and_clinical_characterization_of_myotonic_dystrophy_type_1_patients_carrying_variant_repeats_within_DMPK_expansions"><img alt="Research paper thumbnail of Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions" class="work-thumbnail" src="https://attachments.academia-assets.com/114681182/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272508/Molecular_genetic_and_clinical_characterization_of_myotonic_dystrophy_type_1_patients_carrying_variant_repeats_within_DMPK_expansions">Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions</a></div><div class="wp-workCard_item"><span>Neurogenetics</span><span>, Sep 23, 2017</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="60a542fb52f09c101f1d53e681a38433" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681182,&quot;asset_id&quot;:119272508,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681182/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272508"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272508"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272508; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "60a542fb52f09c101f1d53e681a38433" } } $('.js-work-strip[data-work-id=119272508]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272508,"title":"Molecular genetic and clinical characterization of myotonic dystrophy type 1 patients carrying variant repeats within DMPK expansions","translated_title":"","metadata":{"publisher":"Springer Science+Business Media","grobid_abstract":"Myotonic dystrophy type 1 (DM1) is caused by a highly unstable expansion of CTG repeats in the DMPK gene. Its huge phenotypic variability cannot be explained solely by the repeat number. Recently, variant repeats within the DMPK expansions have emerged as potential disease modifiers. The frequency of variant expanded alleles was estimated in 242 DM1 patients from 174 Serbian families using repeat-primed PCR (RP-PCR). The patterns of variant repeats were determined by direct sequencing of RP-PCR or PCR products. PCR-based southern blot was performed to get insight into the intergenerational mutational dynamics of variant expanded alleles. All patients carrying variant repeats were clinically reexamined. Variant repeats were observed in eight patients from five families (2.9%). They were detected only at the 3′ end of DMPK expansions. CCG variant repeats were present in seven patients, either as a part of regular runs of CCGCTG hexamer, individual repeats, or CCG blocks. Analyses of three intergenerational transmissions revealed a considerable stability or likely a contraction of variant expanded alleles. Intriguingly, a decrease in age at onset accompanied these transmissions. Overall, patients were characterized by a milder phenotype and/or some atypical symptoms that could be rather clinically suggestive of myotonic dystrophy type 2. In addition, the first case of de novo CTC variant repeat was observed. Variant repeats might explain a part of the phenotypic variability in a small percent of DM1 patients and likely display a stabilizing effect on the meiotic instability of DMPK expanded alleles.","publication_date":{"day":23,"month":9,"year":2017,"errors":{}},"publication_name":"Neurogenetics","grobid_abstract_attachment_id":114681182},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272508/Molecular_genetic_and_clinical_characterization_of_myotonic_dystrophy_type_1_patients_carrying_variant_repeats_within_DMPK_expansions","translated_internal_url":"","created_at":"2024-05-18T00:53:22.106-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681182,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681182/thumbnails/1.jpg","file_name":"s10048-017-0523-720240518-1-q5vi3h.pdf","download_url":"https://www.academia.edu/attachments/114681182/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Molecular_genetic_and_clinical_character.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681182/s10048-017-0523-720240518-1-q5vi3h-libre.pdf?1716022247=\u0026response-content-disposition=attachment%3B+filename%3DMolecular_genetic_and_clinical_character.pdf\u0026Expires=1732732854\u0026Signature=cHZKLFXxz8IZrlkkevu0Jw7isO7AYoKoXqZvlHB9-VyPwRcDMIynR0WPotm~7jXCynvCNqNTgvRVfOV7l3JJAT~l7omBTEYpQ70g2TLVdw-iJOLjkIe~WzWkXUJ31-QkBA7TiMupbPTnZt9nA~YuP1uiodr0vjsHze5IgeKu3GgRcAlR5P6-wt9fR8teWLp9x8h1dzN4-soXf3z1P8jKjmw75Fbe0FErlmJQTvNQ3fgZC7xeMxOyvFcPHcLK-FyY65GrOvKifsiHfI13DzQaAsKpYaKGWPKrNt0urdGc16b2edOFiEr2vjKJy64~XdXgzjgUL60GnQtUw4nF2vxPxQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Molecular_genetic_and_clinical_characterization_of_myotonic_dystrophy_type_1_patients_carrying_variant_repeats_within_DMPK_expansions","translated_slug":"","page_count":12,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681182,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681182/thumbnails/1.jpg","file_name":"s10048-017-0523-720240518-1-q5vi3h.pdf","download_url":"https://www.academia.edu/attachments/114681182/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Molecular_genetic_and_clinical_character.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681182/s10048-017-0523-720240518-1-q5vi3h-libre.pdf?1716022247=\u0026response-content-disposition=attachment%3B+filename%3DMolecular_genetic_and_clinical_character.pdf\u0026Expires=1732732854\u0026Signature=cHZKLFXxz8IZrlkkevu0Jw7isO7AYoKoXqZvlHB9-VyPwRcDMIynR0WPotm~7jXCynvCNqNTgvRVfOV7l3JJAT~l7omBTEYpQ70g2TLVdw-iJOLjkIe~WzWkXUJ31-QkBA7TiMupbPTnZt9nA~YuP1uiodr0vjsHze5IgeKu3GgRcAlR5P6-wt9fR8teWLp9x8h1dzN4-soXf3z1P8jKjmw75Fbe0FErlmJQTvNQ3fgZC7xeMxOyvFcPHcLK-FyY65GrOvKifsiHfI13DzQaAsKpYaKGWPKrNt0urdGc16b2edOFiEr2vjKJy64~XdXgzjgUL60GnQtUw4nF2vxPxQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":237,"name":"Cognitive Science","url":"https://www.academia.edu/Documents/in/Cognitive_Science"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":14322,"name":"Neurogenetics","url":"https://www.academia.edu/Documents/in/Neurogenetics"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":141786,"name":"Myotonic Dystrophy","url":"https://www.academia.edu/Documents/in/Myotonic_Dystrophy"},{"id":1004200,"name":"Allele","url":"https://www.academia.edu/Documents/in/Allele"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences"}],"urls":[{"id":42067630,"url":"https://doi.org/10.1007/s10048-017-0523-7"}]}, dispatcherData: dispatcherData }); 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Molecular genetics of myotonic disorders in Serbian patients" class="work-thumbnail" src="https://attachments.academia-assets.com/114681165/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272506/5_Molecular_genetics_of_myotonic_disorders_in_Serbian_patients">5. Molecular genetics of myotonic disorders in Serbian patients</a></div><div class="wp-workCard_item"><span>Clinical Neurophysiology</span><span>, Jul 1, 2013</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="6ee98eb85a1a553212f0564a2a4fd936" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681165,&quot;asset_id&quot;:119272506,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681165/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272506"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272506"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272506; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272506]").text(description); $(".js-view-count[data-work-id=119272506]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272506; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272506']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272506, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "6ee98eb85a1a553212f0564a2a4fd936" } } $('.js-work-strip[data-work-id=119272506]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272506,"title":"5. Molecular genetics of myotonic disorders in Serbian patients","translated_title":"","metadata":{"publisher":"Elsevier BV","grobid_abstract":"Results: All 14 patients from 8 families expressed very severe neuropathy, sporadic in two cases and autosomal recessive in others. ENMG was typical for axonal neuropathies (small or no detectable SNAP and CMAP, especially on leg's nerves and normal or mildly decreased sensitive and motor velocity). Spontaneous activity was not myotonic, it was neuromyotonic, showing excess in excitability of the peripheral motor axons rather than muscles. Homozygote mutation (p.R37P) in new HINT1 gene was detected. Still, the exact mechanism through which HINT1 mutations cause peripheral neuropathy with neuromyotonia remains unclear. Conclusion: HINT1 neuropathies or autosomal recessive axonal neuropathy with neuromyotonia form a new disease entity among the myotonic syndromes and have to be differentiated clinically, neurophysiologically and genetically from both myotonic dystrophy and the various channelopathies causing non-dystrophic forms of myotonia.","publication_date":{"day":1,"month":7,"year":2013,"errors":{}},"publication_name":"Clinical Neurophysiology","grobid_abstract_attachment_id":114681165},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272506/5_Molecular_genetics_of_myotonic_disorders_in_Serbian_patients","translated_internal_url":"","created_at":"2024-05-18T00:53:21.155-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681165,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681165/thumbnails/1.jpg","file_name":"j.clinph.2012.12.01420240518-1-3lbzgs.pdf","download_url":"https://www.academia.edu/attachments/114681165/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"5_Molecular_genetics_of_myotonic_disorde.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681165/j.clinph.2012.12.01420240518-1-3lbzgs-libre.pdf?1716022244=\u0026response-content-disposition=attachment%3B+filename%3D5_Molecular_genetics_of_myotonic_disorde.pdf\u0026Expires=1732732854\u0026Signature=RkB2Q6weRtoRyH6tNnGVal31SJ2rsl2kweViAMA1dqkXOedtS8R22RPWlXufhWkflA5ezR-RXk9hspV0rPPKyt-X9e6NLsuCBSYRORVG6WUV7lYLSZtlqyiwrPwS44Ja9XXNWiG2upUdWWChIIcon3Qpg30LDmh7Hrub7joVZZyaWtaaunCTHcGM203UdSRmxGoDz9Q01T2nFjZvcL9Ikf7eJxA7lGrXR4Z8~4pgVY0liYKAEO06j8ipifc3P64ow1YrSH-OxbMAcV8dIHuDLslGX9~mzFSyPwmPgIU2MXKEfvCu-C29mZQ6t7skKFK3gjRiEYSCyiGtfN6YxG2bMA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"5_Molecular_genetics_of_myotonic_disorders_in_Serbian_patients","translated_slug":"","page_count":1,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681165,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681165/thumbnails/1.jpg","file_name":"j.clinph.2012.12.01420240518-1-3lbzgs.pdf","download_url":"https://www.academia.edu/attachments/114681165/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"5_Molecular_genetics_of_myotonic_disorde.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681165/j.clinph.2012.12.01420240518-1-3lbzgs-libre.pdf?1716022244=\u0026response-content-disposition=attachment%3B+filename%3D5_Molecular_genetics_of_myotonic_disorde.pdf\u0026Expires=1732732854\u0026Signature=RkB2Q6weRtoRyH6tNnGVal31SJ2rsl2kweViAMA1dqkXOedtS8R22RPWlXufhWkflA5ezR-RXk9hspV0rPPKyt-X9e6NLsuCBSYRORVG6WUV7lYLSZtlqyiwrPwS44Ja9XXNWiG2upUdWWChIIcon3Qpg30LDmh7Hrub7joVZZyaWtaaunCTHcGM203UdSRmxGoDz9Q01T2nFjZvcL9Ikf7eJxA7lGrXR4Z8~4pgVY0liYKAEO06j8ipifc3P64ow1YrSH-OxbMAcV8dIHuDLslGX9~mzFSyPwmPgIU2MXKEfvCu-C29mZQ6t7skKFK3gjRiEYSCyiGtfN6YxG2bMA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":48,"name":"Engineering","url":"https://www.academia.edu/Documents/in/Engineering"},{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":141786,"name":"Myotonic Dystrophy","url":"https://www.academia.edu/Documents/in/Myotonic_Dystrophy"},{"id":263020,"name":"Clinical Neurophysiology","url":"https://www.academia.edu/Documents/in/Clinical_Neurophysiology"},{"id":1004200,"name":"Allele","url":"https://www.academia.edu/Documents/in/Allele"},{"id":2922956,"name":"Psychology and Cognitive Sciences","url":"https://www.academia.edu/Documents/in/Psychology_and_Cognitive_Sciences"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences"}],"urls":[{"id":42067628,"url":"https://doi.org/10.1016/j.clinph.2012.12.014"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272505"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272505/Association_of_KLK3_VAMP8_and_MDM4_Genetic_Variants_within_microRNA_Binding_Sites_with_Prostate_Cancer_Evidence_from_Serbian_Population"><img alt="Research paper thumbnail of Association of KLK3, VAMP8 and MDM4 Genetic Variants within microRNA Binding Sites with Prostate Cancer: Evidence from Serbian Population" class="work-thumbnail" src="https://attachments.academia-assets.com/114681180/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272505/Association_of_KLK3_VAMP8_and_MDM4_Genetic_Variants_within_microRNA_Binding_Sites_with_Prostate_Cancer_Evidence_from_Serbian_Population">Association of KLK3, VAMP8 and MDM4 Genetic Variants within microRNA Binding Sites with Prostate Cancer: Evidence from Serbian Population</a></div><div class="wp-workCard_item"><span>Pathology &amp; Oncology Research</span><span>, Jun 17, 2020</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="12dd058fd17dc9776eccd0b3d90a893d" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681180,&quot;asset_id&quot;:119272505,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681180/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272505"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272505"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272505; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272505]").text(description); $(".js-view-count[data-work-id=119272505]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272505; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272505']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272505, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "12dd058fd17dc9776eccd0b3d90a893d" } } $('.js-work-strip[data-work-id=119272505]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272505,"title":"Association of KLK3, VAMP8 and MDM4 Genetic Variants within microRNA Binding Sites with Prostate Cancer: Evidence from Serbian Population","translated_title":"","metadata":{"publisher":"Springer Science+Business Media","grobid_abstract":"A growing number of studies have suggested that genetic variants affecting the micro-RNA-binding mechanisms (miRSNPs) constitute a promising novel class of biomarkers for prostate cancer (PCa) biology. Among the most extensively studied miRSNPs in the context of cancer is the variation rs4245739 in the MDM4 gene, while a recent large-scale analysis revealed significant differences in genotype distributions between aggressive and non-aggressive disease for rs1058205 in KLK3 and rs1010 in VAMP8. In this study, we examined a total of 1083 subjects for these three variants using Taqman® SNP Genotyping Assays. Three hundred and fifty-five samples of peripheral blood were obtained from patients with PCa and 358 samples from patients with benign prostatic hyperplasia (BPH). The control group consisted of 370 healthy volunteers. Comparisons of genotype distributions among PCa and BPH patients, as well as between PCa patients and healthy controls, yielded no evidence of association between the analyzed genetic variants and the risk of developing PCa. However, all three tested genetic variants have shown the association with the parameters of PCa progression. For KLK3 variant rs1058205, minor allele C was found to associate with the lower serum PSA score in PCa patients (PSA \u003e 20 ng/ml vs. PSA \u003c 10 ng/ml comparison, Prec = 0.038; ORrec = 0.20, 95%CI 0.04-1.05). The obtained results point out the potential relevance of the tested genetic variants for the disease aggressiveness assessment.","publication_date":{"day":17,"month":6,"year":2020,"errors":{}},"publication_name":"Pathology \u0026 Oncology Research","grobid_abstract_attachment_id":114681180},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272505/Association_of_KLK3_VAMP8_and_MDM4_Genetic_Variants_within_microRNA_Binding_Sites_with_Prostate_Cancer_Evidence_from_Serbian_Population","translated_internal_url":"","created_at":"2024-05-18T00:53:20.710-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681180,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681180/thumbnails/1.jpg","file_name":"s12253-020-00839-720240518-1-gpvfgy.pdf","download_url":"https://www.academia.edu/attachments/114681180/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_of_KLK3_VAMP8_and_MDM4_Genet.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681180/s12253-020-00839-720240518-1-gpvfgy-libre.pdf?1716022252=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_of_KLK3_VAMP8_and_MDM4_Genet.pdf\u0026Expires=1732732854\u0026Signature=C~uhKv3tWPsRSsXMYVq6QFne9PNMNQoATb4I6KTwsgY7l1C77nH2In7bTlgXOt0DQkRVQhqXE4Upj65s5iuKBZWELBYpye7BEWXJQVAd51CH6~~2r8gkUZTxU10zzmm2iHlEEqJoKjhM7nvIpN42BQVqbRegxVfeNMCwsxVnAOKncwt4o~EF7CI9lqz82-RTrORelTf3Cc0L1UJLEY8HL1qTpKOxaMCbpnuNz5BtNqAoXJhNXES~e6omv2hSOYQTrmdSV7LaM1dc-R7a-~P2KUfbGpX~Z362J3c4vCNmPjLpVWJeube~5oGn9kcY0dWa2NzoaPldknYQe6nOk8KG4A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"Association_of_KLK3_VAMP8_and_MDM4_Genetic_Variants_within_microRNA_Binding_Sites_with_Prostate_Cancer_Evidence_from_Serbian_Population","translated_slug":"","page_count":15,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681180,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681180/thumbnails/1.jpg","file_name":"s12253-020-00839-720240518-1-gpvfgy.pdf","download_url":"https://www.academia.edu/attachments/114681180/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"Association_of_KLK3_VAMP8_and_MDM4_Genet.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681180/s12253-020-00839-720240518-1-gpvfgy-libre.pdf?1716022252=\u0026response-content-disposition=attachment%3B+filename%3DAssociation_of_KLK3_VAMP8_and_MDM4_Genet.pdf\u0026Expires=1732732854\u0026Signature=C~uhKv3tWPsRSsXMYVq6QFne9PNMNQoATb4I6KTwsgY7l1C77nH2In7bTlgXOt0DQkRVQhqXE4Upj65s5iuKBZWELBYpye7BEWXJQVAd51CH6~~2r8gkUZTxU10zzmm2iHlEEqJoKjhM7nvIpN42BQVqbRegxVfeNMCwsxVnAOKncwt4o~EF7CI9lqz82-RTrORelTf3Cc0L1UJLEY8HL1qTpKOxaMCbpnuNz5BtNqAoXJhNXES~e6omv2hSOYQTrmdSV7LaM1dc-R7a-~P2KUfbGpX~Z362J3c4vCNmPjLpVWJeube~5oGn9kcY0dWa2NzoaPldknYQe6nOk8KG4A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":5490,"name":"MicroRNA","url":"https://www.academia.edu/Documents/in/MicroRNA"},{"id":6126,"name":"Serbian","url":"https://www.academia.edu/Documents/in/Serbian"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":403740,"name":"Single Nucleotide Polymorphism","url":"https://www.academia.edu/Documents/in/Single_Nucleotide_Polymorphism"},{"id":486784,"name":"Genotyping","url":"https://www.academia.edu/Documents/in/Genotyping"},{"id":2866225,"name":"Pathology and Oncology","url":"https://www.academia.edu/Documents/in/Pathology_and_Oncology"}],"urls":[{"id":42067627,"url":"https://doi.org/10.1007/s12253-020-00839-7"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272504"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272504/The_effect_of_epistatic_interactions_between_genetic_variants_located_in_microRNA_and_silencing_complex_genes_on_prostate_cancer_progression_risk"><img alt="Research paper thumbnail of The effect of epistatic interactions between genetic variants located in microRNA and silencing complex genes on prostate cancer progression risk" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272504/The_effect_of_epistatic_interactions_between_genetic_variants_located_in_microRNA_and_silencing_complex_genes_on_prostate_cancer_progression_risk">The effect of epistatic interactions between genetic variants located in microRNA and silencing complex genes on prostate cancer progression risk</a></div><div class="wp-workCard_item"><span>Genetika</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Previous studies conducted in Asian and European populations have provided evidence of the associ...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Previous studies conducted in Asian and European populations have provided evidence of the association between microRNA-related genetic variants and prostate cancer (PCa) risk and/or progression. Nevertheless, the results obtained in these studies are inconsistent, which could be explained by the limitations of single-locus main effect evaluations to detect joint effects of multiple genetic variants, reflected in statistical epistases. Therefore, we conducted the analysis of potential epistatic interactions between variants located in microRNA genes and in genes encoding the components of RNA-induced silencing complex (RISC) in relation with PCa risk/aggressiveness. Raw data on genotyping results from our previous studies involving four microRNA polymorphisms and five variants in RISC genes were subjected to the exclusion of samples based on missing data criterion, followed by the re-evaluation of Hardy-Weinberg equilibrium. Afterwards, these genotyping results were included in the ...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272504"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272504"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272504; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272504]").text(description); $(".js-view-count[data-work-id=119272504]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272504; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272504']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272504, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=119272504]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272504,"title":"The effect of epistatic interactions between genetic variants located in microRNA and silencing complex genes on prostate cancer progression risk","translated_title":"","metadata":{"abstract":"Previous studies conducted in Asian and European populations have provided evidence of the association between microRNA-related genetic variants and prostate cancer (PCa) risk and/or progression. Nevertheless, the results obtained in these studies are inconsistent, which could be explained by the limitations of single-locus main effect evaluations to detect joint effects of multiple genetic variants, reflected in statistical epistases. Therefore, we conducted the analysis of potential epistatic interactions between variants located in microRNA genes and in genes encoding the components of RNA-induced silencing complex (RISC) in relation with PCa risk/aggressiveness. Raw data on genotyping results from our previous studies involving four microRNA polymorphisms and five variants in RISC genes were subjected to the exclusion of samples based on missing data criterion, followed by the re-evaluation of Hardy-Weinberg equilibrium. Afterwards, these genotyping results were included in the ...","publisher":"National Library of Serbia","publication_name":"Genetika"},"translated_abstract":"Previous studies conducted in Asian and European populations have provided evidence of the association between microRNA-related genetic variants and prostate cancer (PCa) risk and/or progression. Nevertheless, the results obtained in these studies are inconsistent, which could be explained by the limitations of single-locus main effect evaluations to detect joint effects of multiple genetic variants, reflected in statistical epistases. Therefore, we conducted the analysis of potential epistatic interactions between variants located in microRNA genes and in genes encoding the components of RNA-induced silencing complex (RISC) in relation with PCa risk/aggressiveness. Raw data on genotyping results from our previous studies involving four microRNA polymorphisms and five variants in RISC genes were subjected to the exclusion of samples based on missing data criterion, followed by the re-evaluation of Hardy-Weinberg equilibrium. Afterwards, these genotyping results were included in the ...","internal_url":"https://www.academia.edu/119272504/The_effect_of_epistatic_interactions_between_genetic_variants_located_in_microRNA_and_silencing_complex_genes_on_prostate_cancer_progression_risk","translated_internal_url":"","created_at":"2024-05-18T00:53:20.432-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"The_effect_of_epistatic_interactions_between_genetic_variants_located_in_microRNA_and_silencing_complex_genes_on_prostate_cancer_progression_risk","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":5490,"name":"MicroRNA","url":"https://www.academia.edu/Documents/in/MicroRNA"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":191148,"name":"Epistasis","url":"https://www.academia.edu/Documents/in/Epistasis"},{"id":214220,"name":"Multifactor Dimensionality Reduction","url":"https://www.academia.edu/Documents/in/Multifactor_Dimensionality_Reduction"},{"id":486784,"name":"Genotyping","url":"https://www.academia.edu/Documents/in/Genotyping"},{"id":1168521,"name":"Genetika","url":"https://www.academia.edu/Documents/in/Genetika"}],"urls":[]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272503"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272503/MiR_375_and_miR_21_as_Potential_Biomarkers_of_Prostate_Cancer_Comparison_of_Matching_Samples_of_Plasma_and_Exosomes"><img alt="Research paper thumbnail of MiR-375 and miR-21 as Potential Biomarkers of Prostate Cancer: Comparison of Matching Samples of Plasma and Exosomes" class="work-thumbnail" src="https://attachments.academia-assets.com/114681112/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272503/MiR_375_and_miR_21_as_Potential_Biomarkers_of_Prostate_Cancer_Comparison_of_Matching_Samples_of_Plasma_and_Exosomes">MiR-375 and miR-21 as Potential Biomarkers of Prostate Cancer: Comparison of Matching Samples of Plasma and Exosomes</a></div><div class="wp-workCard_item"><span>Genes</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">MiR-21 and miR-375 have been reported as dysregulated in prostate cancer (PCa) in multiple previo...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">MiR-21 and miR-375 have been reported as dysregulated in prostate cancer (PCa) in multiple previous studies. Still, variable or even opposing data for the expression of these microRNAs in PCa were found, and their potential biomarker properties remain elusive. In an attempt to clarify their significance as PCa biomarkers, as well as to compare different types of specimens as a source of relevant microRNAs, we used plasma and matching plasma-derived exosomes from patients with PCa and patients with benign prostatic hyperplasia (BPH). Plasma and exosomes were obtained from 34 patients with PCa and 34 patients with BPH, and their levels of expression of miR-21 and miR-375 were determined by RT-qPCR. We found no significant difference in the level of expression of these microRNAs in plasma and exosomes between patients with PCa and BPH. The level of exosomal miR-21 was elevated in PCa patients with high serum PSA values, as well as in patients with aggressive PCa, while for plasma sampl...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="5f2b8b6821d1bfeddf1ed3f9d9729862" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681112,&quot;asset_id&quot;:119272503,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681112/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272503"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272503"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272503; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272503]").text(description); $(".js-view-count[data-work-id=119272503]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272503; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272503']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272503, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "5f2b8b6821d1bfeddf1ed3f9d9729862" } } $('.js-work-strip[data-work-id=119272503]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272503,"title":"MiR-375 and miR-21 as Potential Biomarkers of Prostate Cancer: Comparison of Matching Samples of Plasma and Exosomes","translated_title":"","metadata":{"abstract":"MiR-21 and miR-375 have been reported as dysregulated in prostate cancer (PCa) in multiple previous studies. Still, variable or even opposing data for the expression of these microRNAs in PCa were found, and their potential biomarker properties remain elusive. In an attempt to clarify their significance as PCa biomarkers, as well as to compare different types of specimens as a source of relevant microRNAs, we used plasma and matching plasma-derived exosomes from patients with PCa and patients with benign prostatic hyperplasia (BPH). Plasma and exosomes were obtained from 34 patients with PCa and 34 patients with BPH, and their levels of expression of miR-21 and miR-375 were determined by RT-qPCR. We found no significant difference in the level of expression of these microRNAs in plasma and exosomes between patients with PCa and BPH. The level of exosomal miR-21 was elevated in PCa patients with high serum PSA values, as well as in patients with aggressive PCa, while for plasma sampl...","publisher":"MDPI AG","publication_name":"Genes"},"translated_abstract":"MiR-21 and miR-375 have been reported as dysregulated in prostate cancer (PCa) in multiple previous studies. Still, variable or even opposing data for the expression of these microRNAs in PCa were found, and their potential biomarker properties remain elusive. In an attempt to clarify their significance as PCa biomarkers, as well as to compare different types of specimens as a source of relevant microRNAs, we used plasma and matching plasma-derived exosomes from patients with PCa and patients with benign prostatic hyperplasia (BPH). Plasma and exosomes were obtained from 34 patients with PCa and 34 patients with BPH, and their levels of expression of miR-21 and miR-375 were determined by RT-qPCR. We found no significant difference in the level of expression of these microRNAs in plasma and exosomes between patients with PCa and BPH. The level of exosomal miR-21 was elevated in PCa patients with high serum PSA values, as well as in patients with aggressive PCa, while for plasma sampl...","internal_url":"https://www.academia.edu/119272503/MiR_375_and_miR_21_as_Potential_Biomarkers_of_Prostate_Cancer_Comparison_of_Matching_Samples_of_Plasma_and_Exosomes","translated_internal_url":"","created_at":"2024-05-18T00:53:19.938-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681112,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681112/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/114681112/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"MiR_375_and_miR_21_as_Potential_Biomarke.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681112/pdf-libre.pdf?1716022266=\u0026response-content-disposition=attachment%3B+filename%3DMiR_375_and_miR_21_as_Potential_Biomarke.pdf\u0026Expires=1732732854\u0026Signature=OQiCHSgXaKZKQQjHvD1CV0iadFzrsMdEbX1QIss9tFxTY~xgbyxtRsi8SdHhfHlZJG~aQpRaJQtke0SfINhNrBmHLR29fGi1r9jgndoaUzss4PMGJYrnPEu6LD3EkMTo-cjvbtn9W3IqNIHlNTI46P64txvWzdqcZuWH~5t529Rgm5~GHHAOc5mq6fPZmudXH-GGeGsttWJDuQg9u-XkGN2o6blHt4LNN~8jbRZB0v8iqcQK49Xmc5FwGXfMxgfKHBJiNPSuXNVvNJyyFPrJ7T~3~QFjJn0LPEH31Q6uUSsxcEoQcQWtaszgjAtORlXA6EL5FYL6ZxgrKXcnPgLZmw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"MiR_375_and_miR_21_as_Potential_Biomarkers_of_Prostate_Cancer_Comparison_of_Matching_Samples_of_Plasma_and_Exosomes","translated_slug":"","page_count":13,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681112,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681112/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/114681112/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"MiR_375_and_miR_21_as_Potential_Biomarke.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681112/pdf-libre.pdf?1716022266=\u0026response-content-disposition=attachment%3B+filename%3DMiR_375_and_miR_21_as_Potential_Biomarke.pdf\u0026Expires=1732732854\u0026Signature=OQiCHSgXaKZKQQjHvD1CV0iadFzrsMdEbX1QIss9tFxTY~xgbyxtRsi8SdHhfHlZJG~aQpRaJQtke0SfINhNrBmHLR29fGi1r9jgndoaUzss4PMGJYrnPEu6LD3EkMTo-cjvbtn9W3IqNIHlNTI46P64txvWzdqcZuWH~5t529Rgm5~GHHAOc5mq6fPZmudXH-GGeGsttWJDuQg9u-XkGN2o6blHt4LNN~8jbRZB0v8iqcQK49Xmc5FwGXfMxgfKHBJiNPSuXNVvNJyyFPrJ7T~3~QFjJn0LPEH31Q6uUSsxcEoQcQWtaszgjAtORlXA6EL5FYL6ZxgrKXcnPgLZmw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":5490,"name":"MicroRNA","url":"https://www.academia.edu/Documents/in/MicroRNA"},{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":65390,"name":"Internal Medicine","url":"https://www.academia.edu/Documents/in/Internal_Medicine"},{"id":176968,"name":"Hyperplasia","url":"https://www.academia.edu/Documents/in/Hyperplasia"},{"id":233229,"name":"Genes","url":"https://www.academia.edu/Documents/in/Genes"},{"id":338534,"name":"Biomarker","url":"https://www.academia.edu/Documents/in/Biomarker"},{"id":2228703,"name":"Microvesicles","url":"https://www.academia.edu/Documents/in/Microvesicles"}],"urls":[{"id":42067626,"url":"https://www.mdpi.com/2073-4425/13/12/2320/pdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272502"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272502/Association_study_between_single_nucleotide_variants_rs12097821_rs2477686_and_rs10842262_and_idiopathic_male_infertility_risk_in_Serbian_population_with_meta_analysis"><img alt="Research paper thumbnail of Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis" class="work-thumbnail" src="https://attachments.academia-assets.com/114681169/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272502/Association_study_between_single_nucleotide_variants_rs12097821_rs2477686_and_rs10842262_and_idiopathic_male_infertility_risk_in_Serbian_population_with_meta_analysis">Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis</a></div><div class="wp-workCard_item"><span>Journal of Assisted Reproduction and Genetics</span><span>, 2020</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="54ebb2865304e7ce06e763c12d425866" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681169,&quot;asset_id&quot;:119272502,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681169/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NCw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272502"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272502"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272502; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272502]").text(description); $(".js-view-count[data-work-id=119272502]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272502; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272502']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272502, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "54ebb2865304e7ce06e763c12d425866" } } $('.js-work-strip[data-work-id=119272502]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272502,"title":"Association study between single-nucleotide variants rs12097821, rs2477686, and rs10842262 and idiopathic male infertility risk in Serbian population with meta-analysis","translated_title":"","metadata":{"publisher":"Springer Science and Business Media LLC","grobid_abstract":"Purpose A genome-wide association study conducted in the Han Chinese population identified three single nucleotide variants rs12097821, rs2477686, and rs10842262 as being significantly associated with non-obstructive azoospermia. Our aim was to evaluate the possible association between these susceptibility loci and idiopathic male infertility risk in the Serbian population. Methods A case-control study was conducted on 431 male individuals from the Serbian population divided into two groups. The case group consisted of 208 males diagnosed with oligoasthenozoospermia or non-obstructive azoospermia, while the control group involved 223 fertile men who have fathered at least one child. Results According to codominant (P codom = 0.048, OR codom = 0.57, 95%CI 0.35-0.92) and overdominant (P overdom = 0.017, OR overdom = 0.62, 95%CI 0.42-0.92) genetic models, rs10842262 was found to be associated with male infertility. Stratifying infertile men according to diagnosis yielded statistically significant results for non-obstructive azoospermia cases under multiple genetic models (P codom = 0.038, OR codom = 0.47, 95%CI 0.26-0.85; P dom = 0.031, OR dom = 0.53, 95%CI 0.30-0.94; P overdom = 0.016, OR overdom = 0.55, 95%CI 0.33-0.90). Minor allele C of rs2477686 genetic variant was shown to be associated with the reduced risk of oligoasthenozoospermia under the log-additive genetic model (P = 0.03, OR = 0.69, 95%CI 0.50-0.97). The results of the meta-analysis indicate both rs2477686 and rs10842262 to be associated with male infertility. Conclusion Our results show variants rs2477686 and rs10842262 to be significantly associated with male infertility in the Serbian population. 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$(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272498"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272498/Copy_number_variants_within_AZF_region_of_Y_chromosome_and_their_association_with_idiopathic_male_infertility_in_Serbian_population"><img alt="Research paper thumbnail of Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272498/Copy_number_variants_within_AZF_region_of_Y_chromosome_and_their_association_with_idiopathic_male_infertility_in_Serbian_population">Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population</a></div><div class="wp-workCard_item"><span>Andrologia</span><span>, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Results of numerous studies gave contradictory conclusions when analysing associations between co...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">Results of numerous studies gave contradictory conclusions when analysing associations between copy number variants (CNVs) within the azoospermia factor (AZF) locus of the Y chromosome and idiopathic male infertility. The aim of this study was to identify the presence and possible association of CNVs in the AZF region of Y chromosome with idiopathic male infertility in the Serbian population. Using the multiplex ligation-dependent probe amplification technique, we were able to detect CNVs in 24 of 105 (22.86%) infertile men and in 11 of 112 (9.82%) fertile controls. The results of Fisher&amp;#39;s exact test showed a statistically significant difference between cases and controls after merging g(reen)-r(ed)/g(reen)-r(ed) and b(lue)2/b(lue)3 partial deletions identified in the AZFc region (p = 0.024). At the same time, we observed a trend towards statistical significance for a deletion among gr/gr amplicons (p = 0.053). In addition to these, we identified a novel complex CNV involving inversion of r2/r3 amplicons, followed by b2/b3 duplication and b3/b4 deletion, respectively. Additional analyses on a larger study group would be necessary to draw meaningful conclusions about associations among CNVs that presented with higher frequency in the infertile men than the fertile controls.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272498"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272498"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272498; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272498]").text(description); $(".js-view-count[data-work-id=119272498]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272498; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272498']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272498, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=119272498]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272498,"title":"Copy number variants within AZF region of Y chromosome and their association with idiopathic male infertility in Serbian population","translated_title":"","metadata":{"abstract":"Results of numerous studies gave contradictory conclusions when analysing associations between copy number variants (CNVs) within the azoospermia factor (AZF) locus of the Y chromosome and idiopathic male infertility. The aim of this study was to identify the presence and possible association of CNVs in the AZF region of Y chromosome with idiopathic male infertility in the Serbian population. Using the multiplex ligation-dependent probe amplification technique, we were able to detect CNVs in 24 of 105 (22.86%) infertile men and in 11 of 112 (9.82%) fertile controls. The results of Fisher\u0026#39;s exact test showed a statistically significant difference between cases and controls after merging g(reen)-r(ed)/g(reen)-r(ed) and b(lue)2/b(lue)3 partial deletions identified in the AZFc region (p = 0.024). At the same time, we observed a trend towards statistical significance for a deletion among gr/gr amplicons (p = 0.053). In addition to these, we identified a novel complex CNV involving inversion of r2/r3 amplicons, followed by b2/b3 duplication and b3/b4 deletion, respectively. Additional analyses on a larger study group would be necessary to draw meaningful conclusions about associations among CNVs that presented with higher frequency in the infertile men than the fertile controls.","publisher":"Wiley","publication_date":{"day":null,"month":null,"year":2021,"errors":{}},"publication_name":"Andrologia"},"translated_abstract":"Results of numerous studies gave contradictory conclusions when analysing associations between copy number variants (CNVs) within the azoospermia factor (AZF) locus of the Y chromosome and idiopathic male infertility. The aim of this study was to identify the presence and possible association of CNVs in the AZF region of Y chromosome with idiopathic male infertility in the Serbian population. Using the multiplex ligation-dependent probe amplification technique, we were able to detect CNVs in 24 of 105 (22.86%) infertile men and in 11 of 112 (9.82%) fertile controls. The results of Fisher\u0026#39;s exact test showed a statistically significant difference between cases and controls after merging g(reen)-r(ed)/g(reen)-r(ed) and b(lue)2/b(lue)3 partial deletions identified in the AZFc region (p = 0.024). At the same time, we observed a trend towards statistical significance for a deletion among gr/gr amplicons (p = 0.053). In addition to these, we identified a novel complex CNV involving inversion of r2/r3 amplicons, followed by b2/b3 duplication and b3/b4 deletion, respectively. Additional analyses on a larger study group would be necessary to draw meaningful conclusions about associations among CNVs that presented with higher frequency in the infertile men than the fertile controls.","internal_url":"https://www.academia.edu/119272498/Copy_number_variants_within_AZF_region_of_Y_chromosome_and_their_association_with_idiopathic_male_infertility_in_Serbian_population","translated_internal_url":"","created_at":"2024-05-18T00:53:18.005-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Copy_number_variants_within_AZF_region_of_Y_chromosome_and_their_association_with_idiopathic_male_infertility_in_Serbian_population","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics"},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":20317,"name":"Infertility","url":"https://www.academia.edu/Documents/in/Infertility"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":178928,"name":"Male Infertility","url":"https://www.academia.edu/Documents/in/Male_Infertility"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":322326,"name":"Copy Number Variation","url":"https://www.academia.edu/Documents/in/Copy_Number_Variation"},{"id":985419,"name":"Amplicon","url":"https://www.academia.edu/Documents/in/Amplicon"},{"id":3789883,"name":"Paediatrics and reproductive medicine","url":"https://www.academia.edu/Documents/in/Paediatrics_and_reproductive_medicine"}],"urls":[{"id":42067624,"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1111/and.14297"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272497"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272497/NOS3_gene_variants_and_male_infertility_Association_of_4a_4b_with_oligoasthenozoospermia"><img alt="Research paper thumbnail of NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia" class="work-thumbnail" src="https://attachments.academia-assets.com/114681153/thumbnails/1.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272497/NOS3_gene_variants_and_male_infertility_Association_of_4a_4b_with_oligoasthenozoospermia">NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia</a></div><div class="wp-workCard_item"><span>Andrologia</span><span>, 2017</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="2805b8d069717e9709cce840980479dc" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{&quot;attachment_id&quot;:114681153,&quot;asset_id&quot;:119272497,&quot;asset_type&quot;:&quot;Work&quot;,&quot;button_location&quot;:&quot;profile&quot;}" href="https://www.academia.edu/attachments/114681153/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&s=profile"><span><i class="fa fa-arrow-down"></i></span><span>Download</span></a><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272497"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272497"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272497; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272497]").text(description); $(".js-view-count[data-work-id=119272497]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272497; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272497']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272497, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (true){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "2805b8d069717e9709cce840980479dc" } } $('.js-work-strip[data-work-id=119272497]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272497,"title":"NOS3 gene variants and male infertility: Association of 4a/4b with oligoasthenozoospermia","translated_title":"","metadata":{"publisher":"Hindawi Limited","grobid_abstract":"Results of recent studies confirmed that oxidative stress negatively affects sperm motility and causes sperm DNA damage. Produced by nitric oxide synthase 3 (NOS3), nitric oxide is considered to be one of the important mediators of oxidative stress in testis tissue. The aim of this study was to assess the possible association of three genetic variants (rs2070744, rs1799983 and intron variant 4a/4b) in NOS3 gene and infertility occurrence in two groups of infertile men (idiopathic azoospermia and oligoasthenozoospermia) and fertile controls. Genotypes for the single-nucleotide genetic variants rs1799983 and rs2070744 were determined by PCR-RFLP, while genotyping of intron 4 variant 4a/4b was performed by gel electrophoresis of PCR products. Statistical analysis was performed by SNPStats software. No significant association between the three genetic variants of the NOS3 gene and infertility risk was determined comparing allele and genotype frequencies among group of patients diagnosed with azoospermia and the control group. Nevertheless, there was a significant positive association between 4a/4b and infertility in the group of males diagnosed with oligoasthenozoospermia, under overdominant genetic model. Our findings suggest that tandem repeat variant within intron 4 of the NOS3 gene is associated with an increased risk of infertility in men diagnosed with idiopathic oligoasthenozoospermia.","publication_date":{"day":null,"month":null,"year":2017,"errors":{}},"publication_name":"Andrologia","grobid_abstract_attachment_id":114681153},"translated_abstract":null,"internal_url":"https://www.academia.edu/119272497/NOS3_gene_variants_and_male_infertility_Association_of_4a_4b_with_oligoasthenozoospermia","translated_internal_url":"","created_at":"2024-05-18T00:53:17.541-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[{"id":114681153,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681153/thumbnails/1.jpg","file_name":"and.1281720240518-1-8f21vd.pdf","download_url":"https://www.academia.edu/attachments/114681153/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"NOS3_gene_variants_and_male_infertility.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681153/and.1281720240518-1-8f21vd-libre.pdf?1716022254=\u0026response-content-disposition=attachment%3B+filename%3DNOS3_gene_variants_and_male_infertility.pdf\u0026Expires=1732732855\u0026Signature=RBS4f7wtrdYb5fa658jaPG4D3rNu7u2rHD0ATtRmwTQrcn9Pb~FoGzdrY1gpZOVQBQso0GsPrpySA1yKmb-mN9b~zyvKCC7IGmY1lXBohL2-cNqaLJHPd3mda~e3-G21ezaNVrJpPsL9FpJK5LY~yWtq8vJXsRtvPqE-3wOy2wYE7CcrS4AOzN-uzulD4fD8shIuAjt8Fjw1TXYM1UnGAeFmduoyqNpYv9GAHebpXjEdiHNzVQoz0VMe1a0X7o5y24Apk3En4oULlPAKRXWzEKYTRQ10B74h1UsqeafMd3hrZmEn7XSbIg8OXJVWeJM0CuuN5slnC4nL6c07~g8l5w__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"slug":"NOS3_gene_variants_and_male_infertility_Association_of_4a_4b_with_oligoasthenozoospermia","translated_slug":"","page_count":8,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[{"id":114681153,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/114681153/thumbnails/1.jpg","file_name":"and.1281720240518-1-8f21vd.pdf","download_url":"https://www.academia.edu/attachments/114681153/download_file?st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&st=MTczMjcyOTI1NSw4LjIyMi4yMDguMTQ2&","bulk_download_file_name":"NOS3_gene_variants_and_male_infertility.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/114681153/and.1281720240518-1-8f21vd-libre.pdf?1716022254=\u0026response-content-disposition=attachment%3B+filename%3DNOS3_gene_variants_and_male_infertility.pdf\u0026Expires=1732732855\u0026Signature=RBS4f7wtrdYb5fa658jaPG4D3rNu7u2rHD0ATtRmwTQrcn9Pb~FoGzdrY1gpZOVQBQso0GsPrpySA1yKmb-mN9b~zyvKCC7IGmY1lXBohL2-cNqaLJHPd3mda~e3-G21ezaNVrJpPsL9FpJK5LY~yWtq8vJXsRtvPqE-3wOy2wYE7CcrS4AOzN-uzulD4fD8shIuAjt8Fjw1TXYM1UnGAeFmduoyqNpYv9GAHebpXjEdiHNzVQoz0VMe1a0X7o5y24Apk3En4oULlPAKRXWzEKYTRQ10B74h1UsqeafMd3hrZmEn7XSbIg8OXJVWeJM0CuuN5slnC4nL6c07~g8l5w__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}],"research_interests":[{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology"},{"id":20317,"name":"Infertility","url":"https://www.academia.edu/Documents/in/Infertility"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":178928,"name":"Male Infertility","url":"https://www.academia.edu/Documents/in/Male_Infertility"},{"id":208557,"name":"Azoospermia","url":"https://www.academia.edu/Documents/in/Azoospermia"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":878264,"name":"Varicocele","url":"https://www.academia.edu/Documents/in/Varicocele"},{"id":3789883,"name":"Paediatrics and reproductive medicine","url":"https://www.academia.edu/Documents/in/Paediatrics_and_reproductive_medicine"}],"urls":[{"id":42067623,"url":"http://onlinelibrary.wiley.com/wol1/doi/10.1111/and.12817/fullpdf"}]}, dispatcherData: dispatcherData }); $(this).data('initialized', true); } }); $a.trackClickSource(".js-work-strip-work-link", "profile_work_strip") }); </script> <div class="js-work-strip profile--work_container" data-work-id="119272496"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" href="https://www.academia.edu/119272496/Genetic_variants_in_RNA_induced_silencing_complex_genes_and_prostate_cancer"><img alt="Research paper thumbnail of Genetic variants in RNA-induced silencing complex genes and prostate cancer" class="work-thumbnail" src="https://a.academia-assets.com/images/blank-paper.jpg" /></a></div><div class="wp-workCard wp-workCard_itemContainer"><div class="wp-workCard_item wp-workCard--title"><a class="js-work-strip-work-link text-gray-darker" data-click-track="profile-work-strip-title" href="https://www.academia.edu/119272496/Genetic_variants_in_RNA_induced_silencing_complex_genes_and_prostate_cancer">Genetic variants in RNA-induced silencing complex genes and prostate cancer</a></div><div class="wp-workCard_item"><span>World Journal of Urology</span><span>, 2016</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">PurposeThe purpose of this study is to evaluate the potential association between genetic variant...</span><a class="js-work-more-abstract" data-broccoli-component="work_strip.more_abstract" data-click-track="profile-work-strip-more-abstract" href="javascript:;"><span> more </span><span><i class="fa fa-caret-down"></i></span></a><span class="js-work-more-abstract-untruncated hidden">PurposeThe purpose of this study is to evaluate the potential association between genetic variants in genes encoding the components of RNA-induced silencing complex and prostate cancer (PCa) risk. Genetic variants chosen for this study are rs3742330 in DICER1, rs4961280 in AGO2, rs784567 in TARBP2, rs7813 in GEMIN4 and rs197414 in GEMIN3.MethodsThe study involved 355 PCa patients, 360 patients with benign prostatic hyperplasia and 318 healthy controls. For individuals diagnosed with PCa, clinicopathological characteristics including serum prostate-specific antigen level at diagnosis, Gleason score (GS) and clinical stage were determined. Genotyping was performed using high-resolution melting analysis, PCR–RFLP, TaqMan SNP Genotyping Assay and real-time PCR-based genotyping assay using specific probes. Allelic and genotypic associations were evaluated by unconditional linear and logistic regression methods.ResultsThe study provided no evidence of association between the analyzed genetic variants and PCa risk. Nevertheless, allele A of rs784567 was found to confer the reduced risk of higher serum PSA level at diagnosis (P = 0.046; Difference = −66.64, 95 % CI −131.93 to 1.35, for log-additive model). Furthermore, rs4961280, as well as rs3742330, were shown to be associated with GS. These variants, together with rs7813, were found to be associated with the lower clinical stage of PCa. Also, rs3742330 minor allele G was found to be associated with lower PCa aggressiveness (P = 0.036; OR 0.14, 95 % CI 0.023–1.22, for recessive model).ConclusionsAccording to our data, rs3742330, rs4961280 and rs7813 qualify for potentially protective genetic variants against PCa progression. These variants were not shown to be associated with PCa risk.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="119272496"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span><span id="work-strip-rankings-button-container"></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="119272496"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 119272496; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=119272496]").text(description); $(".js-view-count[data-work-id=119272496]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 119272496; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='119272496']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span><span><script>$(function() { new Works.PaperRankView({ workId: 119272496, container: "", }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-f77ea15d77ce96025a6048a514272ad8becbad23c641fc2b3bd6e24ca6ff1932.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "-1" } } $('.js-work-strip[data-work-id=119272496]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":119272496,"title":"Genetic variants in RNA-induced silencing complex genes and prostate cancer","translated_title":"","metadata":{"abstract":"PurposeThe purpose of this study is to evaluate the potential association between genetic variants in genes encoding the components of RNA-induced silencing complex and prostate cancer (PCa) risk. Genetic variants chosen for this study are rs3742330 in DICER1, rs4961280 in AGO2, rs784567 in TARBP2, rs7813 in GEMIN4 and rs197414 in GEMIN3.MethodsThe study involved 355 PCa patients, 360 patients with benign prostatic hyperplasia and 318 healthy controls. For individuals diagnosed with PCa, clinicopathological characteristics including serum prostate-specific antigen level at diagnosis, Gleason score (GS) and clinical stage were determined. Genotyping was performed using high-resolution melting analysis, PCR–RFLP, TaqMan SNP Genotyping Assay and real-time PCR-based genotyping assay using specific probes. Allelic and genotypic associations were evaluated by unconditional linear and logistic regression methods.ResultsThe study provided no evidence of association between the analyzed genetic variants and PCa risk. Nevertheless, allele A of rs784567 was found to confer the reduced risk of higher serum PSA level at diagnosis (P = 0.046; Difference = −66.64, 95 % CI −131.93 to 1.35, for log-additive model). Furthermore, rs4961280, as well as rs3742330, were shown to be associated with GS. These variants, together with rs7813, were found to be associated with the lower clinical stage of PCa. Also, rs3742330 minor allele G was found to be associated with lower PCa aggressiveness (P = 0.036; OR 0.14, 95 % CI 0.023–1.22, for recessive model).ConclusionsAccording to our data, rs3742330, rs4961280 and rs7813 qualify for potentially protective genetic variants against PCa progression. These variants were not shown to be associated with PCa risk.","publisher":"Springer Science and Business Media LLC","publication_date":{"day":null,"month":null,"year":2016,"errors":{}},"publication_name":"World Journal of Urology"},"translated_abstract":"PurposeThe purpose of this study is to evaluate the potential association between genetic variants in genes encoding the components of RNA-induced silencing complex and prostate cancer (PCa) risk. Genetic variants chosen for this study are rs3742330 in DICER1, rs4961280 in AGO2, rs784567 in TARBP2, rs7813 in GEMIN4 and rs197414 in GEMIN3.MethodsThe study involved 355 PCa patients, 360 patients with benign prostatic hyperplasia and 318 healthy controls. For individuals diagnosed with PCa, clinicopathological characteristics including serum prostate-specific antigen level at diagnosis, Gleason score (GS) and clinical stage were determined. Genotyping was performed using high-resolution melting analysis, PCR–RFLP, TaqMan SNP Genotyping Assay and real-time PCR-based genotyping assay using specific probes. Allelic and genotypic associations were evaluated by unconditional linear and logistic regression methods.ResultsThe study provided no evidence of association between the analyzed genetic variants and PCa risk. Nevertheless, allele A of rs784567 was found to confer the reduced risk of higher serum PSA level at diagnosis (P = 0.046; Difference = −66.64, 95 % CI −131.93 to 1.35, for log-additive model). Furthermore, rs4961280, as well as rs3742330, were shown to be associated with GS. These variants, together with rs7813, were found to be associated with the lower clinical stage of PCa. Also, rs3742330 minor allele G was found to be associated with lower PCa aggressiveness (P = 0.036; OR 0.14, 95 % CI 0.023–1.22, for recessive model).ConclusionsAccording to our data, rs3742330, rs4961280 and rs7813 qualify for potentially protective genetic variants against PCa progression. These variants were not shown to be associated with PCa risk.","internal_url":"https://www.academia.edu/119272496/Genetic_variants_in_RNA_induced_silencing_complex_genes_and_prostate_cancer","translated_internal_url":"","created_at":"2024-05-18T00:53:17.092-07:00","preview_url":null,"current_user_can_edit":null,"current_user_is_owner":null,"owner_id":23020699,"coauthors_can_edit":true,"document_type":"paper","co_author_tags":[],"downloadable_attachments":[],"slug":"Genetic_variants_in_RNA_induced_silencing_complex_genes_and_prostate_cancer","translated_slug":"","page_count":null,"language":"en","content_type":"Work","owner":{"id":23020699,"first_name":"Goran","middle_initials":null,"last_name":"Brajuskovic","page_name":"GoranBrajuskovic","domain_name":"bg","created_at":"2014-12-06T08:16:06.946-08:00","display_name":"Goran Brajuskovic","url":"https://bg.academia.edu/GoranBrajuskovic"},"attachments":[],"research_interests":[{"id":12980,"name":"Prostate Cancer","url":"https://www.academia.edu/Documents/in/Prostate_Cancer"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype"},{"id":486784,"name":"Genotyping","url":"https://www.academia.edu/Documents/in/Genotyping"}],"urls":[{"id":42067622,"url":"http://link.springer.com/content/pdf/10.1007/s00345-016-1917-0.pdf"}]}, dispatcherData: dispatcherData }); 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