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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 Qingjiong Zhang</h3></div><div class="js-work-strip profile--work_container" data-work-id="127556748"><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/127556748/Novel_BMP4_Truncations_Resulted_in_Opposite_Ocular_Anomalies_Pathologic_Myopia_Rather_Than_Microphthalmia"><img alt="Research paper thumbnail of Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia" class="work-thumbnail" src="https://attachments.academia-assets.com/121273089/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/127556748/Novel_BMP4_Truncations_Resulted_in_Opposite_Ocular_Anomalies_Pathologic_Myopia_Rather_Than_Microphthalmia">Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia</a></div><div class="wp-workCard_item"><span>Frontiers in Cell and Developmental Biology</span><span>, Dec 1, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">BMP4 variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607...</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">BMP4 variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607932). This study aims to describe BMP4 truncation mutations contributing to a novel phenotype in eight patients from four Chinese families. In this study, BMP4 variants were collected from a large dataset from in-house exome sequencing. Candidate variants were filtered by multiple in silico tools as well as comparison with data from multiple databases. Potential pathogenic variants were further confirmed by Sanger sequencing and cosegregation analysis. Four novel truncation variants in BMP4 were detected in four out of 7,314 unrelated probands with different eye conditions. These four mutations in the four families solely cosegregated in all eight patients with a specific form of pathologic myopia, characterized by significantly extended axial length, posterior staphyloma, macula patchy, chorioretinal atrophy, myopic optic neuropathy or glaucoma, vitreous opacity, and unique peripheral snow-grain retinopathy. The extreme rarity of the truncations in BMP4 (classified as intolerant in the gnomAD database, pLI = 0.96), the exclusive presence of these variants in the four families with pathologic myopia, variants fully co-segregated with the same specific phenotypes in eight patients from the four families, and the association of the pathogenicity of truncations with syndromic microphthalmia in previous studies, all support a novel association of BMP4 truncations with a specific form of pathologic myopia. The data presented in this study demonstrated that heterozygous BMP4 truncations contributed to a novel phenotype: pathologic myopia rather than microphthalmia. Mutations in the same gene resulting in both high myopia and microphthalmia have been observed for a few other genes like FZD5 and PAX6, suggesting bidirectional roles of these genes in early ocular development. Further studies are expected to elucidate the molecular mechanism of the bidirectional regulation.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="cccd5a5f74750c6fa5c2412b5212c104" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":121273089,"asset_id":127556748,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/121273089/download_file?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="127556748"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="127556748"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 127556748; 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$(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="126098736"><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/126098736/Clinical_and_genetic_risk_factors_underlying_severe_consequence_identified_in_75_families_with_unilateral_high_myopia"><img alt="Research paper thumbnail of Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia" class="work-thumbnail" src="https://attachments.academia-assets.com/120028312/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/126098736/Clinical_and_genetic_risk_factors_underlying_severe_consequence_identified_in_75_families_with_unilateral_high_myopia">Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia</a></div><div class="wp-workCard_item"><span>Journal of Translational Medicine</span><span>, Jan 18, 2024</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or ...</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">Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in a large Chinese cohort. Methods A total of 75 probands with simplex uHM were included in our Pediatric and Genetic Eye Clinic. Patients with significant posterior anomalies other than myopic fundus changes were excluded. Variants were detected by exome sequencing and then analyzed through multiple-step bioinformatic and co-segregation analysis and finally confirmed by Sanger sequencing. Genetic findings were correlated with associated clinical data for analysis. Results Among the 75 probands with a mean age of 6.21 卤 4.70 years at the presentation, myopic fundus of C1 and C2 was observed in 73 (97.3%) probands. Surprisingly, specific peripheral changes were identified in 63 eyes involving 36 (48.0%) probands after extensive examination, including peripheral retinal avascular zone (74.6%, 47/63 eyes), neovascularization (54.0%), fluorescein leakage (31.7%), peripheral pigmentary changes (31.7%), and others. Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW, FRMD7, and CACNA1F; 9/20). For the peripheral retinal changes in the 20 probands, variants in Stickler syndrome-related genes were predominantly associated with retinal pigmentary changes, lattice degeneration, and retinal avascular region, while variants in genes related to FEVR were mainly associated with the avascular zone, neovascularization, and fluorescein leakage. Conclusions Genetic defects were identified in about one-fourth of simplex uHM patients in which significant consequences may be hidden under a classic myopic fundus in up to half. To our knowledge, this is the first systematic genetic study on simplex uHM to date. In addition to routine care of strabismus and amblyopia, careful examination of the peripheral retina and genetic screening is warranted for patients with uHM in order to identify signs of risk for retinal detachment and other complications and provide meaningful genetic counseling.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="21684d84ad3a37853305543a7ddaa2fe" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028312,"asset_id":126098736,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028312/download_file?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="126098736"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098736"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098736; 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We set out to investigate the treatment outcome of trabeculectomy for secondary ACG in a group of patients with autosomal recessive bestrophinopathy (ARB).</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="8496119372a177f297eb0cb1b4c208cd" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028317,"asset_id":126098735,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028317/download_file?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="126098735"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098735"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098735; 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$(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="126098734"><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/126098734/Arbutin_Protects_Retinal_Pigment_Epithelium_Against_Oxidative_Stress_by_Modulating_SIRT1_FOXO3a_PGC_1%CE%B1_%CE%B2_Pathway"><img alt="Research paper thumbnail of Arbutin Protects Retinal Pigment Epithelium Against Oxidative Stress by Modulating SIRT1/FOXO3a/PGC-1伪/尾 Pathway" class="work-thumbnail" src="https://attachments.academia-assets.com/120028311/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/126098734/Arbutin_Protects_Retinal_Pigment_Epithelium_Against_Oxidative_Stress_by_Modulating_SIRT1_FOXO3a_PGC_1%CE%B1_%CE%B2_Pathway">Arbutin Protects Retinal Pigment Epithelium Against Oxidative Stress by Modulating SIRT1/FOXO3a/PGC-1伪/尾 Pathway</a></div><div class="wp-workCard_item"><span>Frontiers in Genetics</span><span>, Aug 16, 2022</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Age-related macular degeneration (AMD), which is the leading cause of blindness among the elderly...</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">Age-related macular degeneration (AMD), which is the leading cause of blindness among the elderly in western societies, is majorly accompanied by retinal pigment epithelium (RPE) degeneration. Because of the irreversible RPE cell loss among oxidative stress, it is crucial to search for available drugs for atrophic (dry) AMD. RNA-Seq analysis revealed that genes related to aging and mitochondrial health were differentially expressed under Arbutin treatment, whereas compared to oxidative injury, our study demonstrated that Arbutin substantially abrogated oxidative stress-induced cell senescence and apoptosis linked to intracellular antioxidant enzyme system homeostasis maintenance, restored mitochondrial membrane potential (MMP), and reduced the SA-尾-GAL accumulation in RPE. Furthermore, Arbutin alleviated oxidative stress-mediated cell apoptosis and senescence via activation of SIRT1, as evidenced by the increase of the downstream FoxO3a and PGC-1伪/尾 that are related to mitochondrial biogenesis, and the suppression of NF-魏B p65 inflammasome, whereas rehabilitation of oxidative stress by SIRT1 inhibitor attenuated the protective effect of Arbutin. In conclusion, we validated the results in an in vivo model constructed by NAIO 3-injured mice. OCT and HE staining showed that Arbutin sustained retinal integrity in the case of oxidative damage in vivo, and the disorder of RPE cytochrome was alleviated through fundus observation. In summary, our findings identified that oxidative stress-induced mitochondrial malfunction and the subsequent senescence acceleration in RPE cells, whereas Arbutin inhibited TBHP-induced RPE degeneration via regulating the SIRT1/Foxo3a/PGC-1伪/尾 signaling pathway. These findings suggested that Arbutin is a new agent with potential applications in the development of AMD diseases.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d38d73c76e53e2d614feadc67ad7d2cd" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028311,"asset_id":126098734,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028311/download_file?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="126098734"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098734"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098734; 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window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098733]").text(description); $(".js-view-count[data-work-id=126098733]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 126098733; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='126098733']"); 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></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.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: "94168b9889846b35e70a3d77ae7b885c" } } $('.js-work-strip[data-work-id=126098733]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":126098733,"title":"Variants in \u003ci\u003eRCBTB1\u003c/i\u003e are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR","internal_url":"https://www.academia.edu/126098733/Variants_in_i_RCBTB1_i_are_Associated_with_Autosomal_Recessive_Retinitis_Pigmentosa_but_Not_Autosomal_Dominant_FEVR","owner_id":45139348,"coauthors_can_edit":true,"owner":{"id":45139348,"first_name":"Qingjiong","middle_initials":null,"last_name":"Zhang","page_name":"QingjiongZhang","domain_name":"independent","created_at":"2016-03-15T02:02:43.231-07:00","display_name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"},"attachments":[{"id":120028310,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/120028310/thumbnails/1.jpg","file_name":"25270489.pdf","download_url":"https://www.academia.edu/attachments/120028310/download_file","bulk_download_file_name":"Variants_in_i_RCBTB1_i_are_Associated_wi.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/120028310/25270489-libre.pdf?1733448644=\u0026response-content-disposition=attachment%3B+filename%3DVariants_in_i_RCBTB1_i_are_Associated_wi.pdf\u0026Expires=1740038314\u0026Signature=hS28syJWJPd5KxMxW9uQSd61hQUlmx7hfj~rQSWG7Lk-Qb-JNK-gcFzZjCHk6VFexX1uA5PUYMqv2jaFCsnZrjUv8skpj7LGlGBosey4LyZ2VBqbcJHx8RArhy8BIM1A-1nTkGI2pGO04jFJ8OLxbSyYngqWXn2wt-ZwBsNyw2n5yac1r5mnZTPnw0ADGO68XEbv-qJ8HkoT3bmWWNJdtAC-hmHq9kCQVPDsDZUK93XPt5g4n9mo4HNTolMEw1wvq6maaOiw-ipVRF7-qiYHZm~7dl~Ug7XWJm8qRLk~4f8ohhtuXkiOSLM-hAyqIdKhKs~0ZQRfW1kURTHlbycKJw__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":120028309,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/120028309/thumbnails/1.jpg","file_name":"25270489.pdf","download_url":"https://www.academia.edu/attachments/120028309/download_file","bulk_download_file_name":"Variants_in_i_RCBTB1_i_are_Associated_wi.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/120028309/25270489-libre.pdf?1733448644=\u0026response-content-disposition=attachment%3B+filename%3DVariants_in_i_RCBTB1_i_are_Associated_wi.pdf\u0026Expires=1740038314\u0026Signature=ciiHvnoPdanyIgs2a9Cm-KJ253b6LTLTpYAgvaSCCkNjqzY7amXqKBMx3Vp4oetG9TbJyoIb-XSqdpQVcl67a3iMFuao0y8Aq9H2a4AjOAKMObQ94lXgl99EZvNRDhnW-qpsJlAe4EN-8dZbT~jGFsVS-0H5o5FWzE1K5HwB3qvMOjFBCM4MB8MisEPew1Xu5Q7R0to8QJgTHU7zBbPNhLKJWei-QhY3s7vwZx16mrrZZISWKKyrFKmr6yuqQ~5HhsanyYyajjAFNQHQqh6NFvn9etwum3azdx2Lgh3vmuhwHYvHSyvH8kmGcAGe~IWdVlGVrOx8m2yqje9Q7StFyg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, 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="126098732"><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/126098732/A_novel_truncation_mutation_in_GJA1_associated_with_open_angle_glaucoma_and_microcornea_in_a_large_Chinese_family"><img alt="Research paper thumbnail of A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family" class="work-thumbnail" src="https://attachments.academia-assets.com/120028308/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/126098732/A_novel_truncation_mutation_in_GJA1_associated_with_open_angle_glaucoma_and_microcornea_in_a_large_Chinese_family">A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family</a></div><div class="wp-workCard_item"><span>Eye</span><span>, May 15, 2015</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Purpose To identify genetic defects in a large family with open angle glaucoma (OAG) and microcor...</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">Purpose To identify genetic defects in a large family with open angle glaucoma (OAG) and microcornea. Methods Genomic DNA was prepared from leukocytes of 15 individuals from three generations of a Chinese family, including seven individuals with OAG and microcornea, one with microcornea alone, and seven healthy individuals. Whole exome sequencing was performed on genomic DNA of the proband. Candidate variants were obtained through multiple steps of bioinformatics analysis and validated by Sanger sequencing and segregation analysis. Results Exome sequencing detected a candidate variant in GJA1, a novel truncation mutation (c.791_792delAA, p.K264Ifs*43). This mutation was present in all seven individuals with OAG and microcornea and the individual with microcornea alone, but not in the seven unaffected relatives in the family. It was not present in 1394 alleles from 505 unrelated controls without glaucoma and 192 normal controls. Extraocular signs were not observed in seven out of the eight individuals; only one was affected with dental enamel hypoplasia and syndactyly. Conclusions A novel truncation mutation in GJA1 is associated with OAG and microcornea in a Chinese family. This suggests that GJA1 should be included as a candidate gene for glaucoma.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="edf15a2deb011a94904283e3dfe43be0" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028308,"asset_id":126098732,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028308/download_file?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="126098732"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098732"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098732; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "edf15a2deb011a94904283e3dfe43be0" } } $('.js-work-strip[data-work-id=126098732]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":126098732,"title":"A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family","internal_url":"https://www.academia.edu/126098732/A_novel_truncation_mutation_in_GJA1_associated_with_open_angle_glaucoma_and_microcornea_in_a_large_Chinese_family","owner_id":45139348,"coauthors_can_edit":true,"owner":{"id":45139348,"first_name":"Qingjiong","middle_initials":null,"last_name":"Zhang","page_name":"QingjiongZhang","domain_name":"independent","created_at":"2016-03-15T02:02:43.231-07:00","display_name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"},"attachments":[{"id":120028308,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/120028308/thumbnails/1.jpg","file_name":"eye201574.pdf","download_url":"https://www.academia.edu/attachments/120028308/download_file","bulk_download_file_name":"A_novel_truncation_mutation_in_GJA1_asso.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/120028308/eye201574-libre.pdf?1733448648=\u0026response-content-disposition=attachment%3B+filename%3DA_novel_truncation_mutation_in_GJA1_asso.pdf\u0026Expires=1740038314\u0026Signature=Z5NdUr013HXC0cQi1z0nWMBkeC8GayYJF0Xg2c5JIg~2G6t6fppNJTUMe9j58btxQhab7xnxvQX4TEZ3zFyMx1UV97nmH-wY5UFs-QLRer4ASOZQD~xU2dSVJdd3qEqB99hHAA5LP89kdDiiWLFKL8omaDPdcIWraUVSfYvsvvm8u6PNiBdL-qkDHqpOTlW-UjzHrI-Dgv9fVIvOwxSY-hrLPauRO5cK2WhqdlK2WXIDpZQ9y9RYa8Qn4ewdtAAHaegJFz6mF8GiULIYfhRzflKnXkS95HeLNXbEYtc8lTSI8OcnJa~Bt846m4eXeFN1fVnQsKHOUJkhL1MDwPdFoA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, 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="126098731"><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/126098731/Mitochondrial_DNA_mutation_m_10680G_and_gt_A_is_associated_with_Leber_hereditary_optic_neuropathy_in_Chinese_patients"><img alt="Research paper thumbnail of Mitochondrial DNA mutation m.10680G &gt; A is associated with Leber hereditary optic neuropathy in Chinese patients" class="work-thumbnail" src="https://attachments.academia-assets.com/120028316/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/126098731/Mitochondrial_DNA_mutation_m_10680G_and_gt_A_is_associated_with_Leber_hereditary_optic_neuropathy_in_Chinese_patients">Mitochondrial DNA mutation m.10680G &gt; A is associated with Leber hereditary optic neuropathy in Chinese patients</a></div><div class="wp-workCard_item"><span>Journal of Translational Medicine</span><span>, Mar 9, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with gender bias...</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">Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with gender biased and incomplete penetrance. The majority of LHON patients are caused by one of the three primary mutations (m.3460G > A, m.11778G > A and m.14484T > C). Rare pathogenic mutations have been occasionally reported in LHON patients. Methods: We screened mutation m.10680G > A in the MT-ND4L gene in 774 Chinese patients with clinical features of LHON but lacked the three primary mutations by using allele specific PCR (AS-PCR). Patients with m.10680G > A were further determined entire mtDNA genome sequence. Results: The optimal AS-PCR could detect as low as 10% heteroplasmy of mutation m.10680G > A. Two patients (Le1263 and Le1330) were identified to harbor m.10680G > A. Analysis of the complete mtDNA sequences of the probands suggested that they belonged to haplogroups B4a1 and D6a1. There was no other potentially pathogenic mutation, except for a few private yet reported variants in the MT-ND1 and MT-ND5 genes, in the two lineages. A search in reported mtDNA genome data set (n = 9277; excluding Chinese LHON patients) identified no individual with m.10680G > A. Frequency of m.10680G > A in Chinese LHON patients analyzed in this study and our previous studies (3/784) was significantly higher than that of the general populations (0/9277) (P = 0.0005). Conclusion: Taken together, we speculated that m.10680G > A may be a rare pathogenic mutation for LHON in Chinese. This mutation should be included in future clinical diagnosis.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="0bb04632954d8258aaed78c7c6d8af07" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028316,"asset_id":126098731,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028316/download_file?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="126098731"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098731"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098731; 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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="126098730"><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/126098730/High_Myopia_Is_Not_Associated_with_the_SNPs_in_the_i_TGIF_i_Lumican_i_TGFB1_i_and_i_HGF_i_Genes"><img alt="Research paper thumbnail of High Myopia Is Not Associated with the SNPs in the<i>TGIF</i>, Lumican,<i>TGFB1</i>, and<i>HGF</i>Genes" class="work-thumbnail" src="https://attachments.academia-assets.com/120028306/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/126098730/High_Myopia_Is_Not_Associated_with_the_SNPs_in_the_i_TGIF_i_Lumican_i_TGFB1_i_and_i_HGF_i_Genes">High Myopia Is Not Associated with the SNPs in the<i>TGIF</i>, Lumican,<i>TGFB1</i>, and<i>HGF</i>Genes</a></div><div class="wp-workCard_item"><span>Investigative Ophthalmology & Visual Science</span><span>, Apr 1, 2009</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">PURPOSE. Four single-nucleotide polymorphisms (SNPs) in the TGIF, lumican, TGFB1, and HGF genes h...</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">PURPOSE. Four single-nucleotide polymorphisms (SNPs) in the TGIF, lumican, TGFB1, and HGF genes have been declared to be associated with high myopia in Chinese living in southeast China, but none of them has been confirmed by additional studies. This study was conducted to verify the reported positive association results by analysis of subjects from the same region. METHODS. DNA was prepared from venous leukocytes of 288 patients with high myopia and 208 control subjects. The four SNPs (rs2229336, rs3759223, rs1982073, and rs3735520) in the four genes were genotyped by restriction fragment length polymorphism (RFLP) analysis. The allele and genotype frequencies of these SNPs from patients and control subjects were compared by 2 test. RESULTS. Polymorphism at rs2229336 was not detected in all 496 subjects. There were no statistically significant differences between patients and control subjects for the other three SNPs: rs3759223, rs1982073, and rs3735520. CONCLUSIONS. The study does not support the association of high myopia with alleles of rs2229336 in TGIF, rs3759223 in lumican, rs1982073 in TGFB1, and rs3735520 in HGF. These results provide a view contrary to those in previous reports. Reasonable criteria as well as replication should be the first priority for genetic association studies to avoid excessive expansion of false-positive results, especially for high myopia.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="25af1b2d72cb65ce3e5c7a9dc0889512" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028306,"asset_id":126098730,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028306/download_file?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="126098730"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098730"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098730; 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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="126098729"><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/126098729/Confirmation_and_refinement_of_an_autosomal_dominant_congenital_motor_nystagmus_locus_in_chromosome_1q31_3_q32_1"><img alt="Research paper thumbnail of Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3鈥搎32.1" class="work-thumbnail" src="https://attachments.academia-assets.com/120028304/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/126098729/Confirmation_and_refinement_of_an_autosomal_dominant_congenital_motor_nystagmus_locus_in_chromosome_1q31_3_q32_1">Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3鈥搎32.1</a></div><div class="wp-workCard_item"><span>Journal of Human Genetics</span><span>, Aug 23, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations. T...</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">Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations. To identify the disease locus for autosomal dominant CMN in a Chinese family 86001, clinical data, including slit lamp and funduscopic examination and blood samples were collected from family. Genomic DNA was prepared from leukocytes, and a genome-wide linkage scan was performed using 382 polymorphic microsatellite markers and two-point linkage analysis using the logarithm of odds (LOD) score method as implemented in the LINKAGE program package. Maximum two-point scores were calculated using ILINK, and LINKMAP was used for multipoint analysis. All nine affected individuals in the family showed typical phenotypes for CMN. Maximum two-point LOD scores (3.61 at h 录 0) were obtained with D1S2619, D1S2877 and D1S2622.The 24.6 cM (28.07 Mb) linked region is flanked by markers D1S218 and D1S2655, placing the disease locus on chromosome 1q25.2-1q32.1. Multipoint analysis confirmed linkage to the region of D1S218 and D1S2655 with Maximum two-point scores of 3.61. The linkage interval overlaps with that of a newly reported CMN locus on 1q31-q32.2 and narrows down the linked region to 5.90 cM (5.92 Mb). This study confirms and refines a novel locus for autosomal dominant CMN to chromosome 1q31.3-q32.1 (5.90 cM) and demonstrates its presence in the Chinese population.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="391c49204183254040580c9c0457d607" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028304,"asset_id":126098729,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028304/download_file?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="126098729"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098729"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098729; 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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="126098728"><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/126098728/Mutation_analysis_of_the_genes_associated_with_anterior_segment_dysgenesis_microcornea_and_microphthalmia_in_257_patients_with_glaucoma"><img alt="Research paper thumbnail of Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma" class="work-thumbnail" src="https://attachments.academia-assets.com/120028303/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/126098728/Mutation_analysis_of_the_genes_associated_with_anterior_segment_dysgenesis_microcornea_and_microphthalmia_in_257_patients_with_glaucoma">Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma</a></div><div class="wp-workCard_item"><span>International Journal of Molecular Medicine</span><span>, Aug 24, 2015</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Genetic factors have an important role in the development of glaucoma; however, the exact genetic...</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">Genetic factors have an important role in the development of glaucoma; however, the exact genetic defects remain to be identified in the majority of patients. Glaucoma is frequently observed in patients with anterior segment dysgenesis (ASD), microcornea or microphthalmia. The present study aimed to detect the potential mutations in the genes associated with ASD, microcornea and microphthalmia in 257 patients with glaucoma. Variants in 43 of the 46 genes, which are associated with ASD, microcornea or microphthalmia, were available in whole-exome sequencing. Candidate variants in the 43 genes were selected following multi-step bioinformatic analysis and were subsequently confirmed by Sanger sequencing. Confirmed variants were further validated by segregation analysis and analysis of controls. Overall, 70 candidate variants were selected from whole-exome sequencing, of which 53 (75.7%) were confirmed by Sanger sequencing. In total, 27 of the 53 were considered potentially pathogenic based on bioinformatic analysis and analysis of controls. Of the 27, 6 were identified in BEST1, 4 in EYA1, 3 in GDF6, 2 in BMP4, 2 in CRYBA4, 2 in HCCS, and 1 in each of CRYAA, CRYGC, CRYGD, COL4A1, FOXC1, GJA8, PITX2 and SHH. The 27 variants were detected in 28 of 257 (10.9%) patients, including 11 of 125 patients with primary open-angle glaucoma and 17 of 132 patients with primary angle-closure glaucoma. Variants in these genes may be a potential risk factor for primary glaucoma. Careful clinical observation and analysis of additional patients in different populations are expected to further these findings.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="f0ff4ea317fb8f70d47ca65a627dbaa2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028303,"asset_id":126098728,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028303/download_file?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="126098728"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098728"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098728; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "f0ff4ea317fb8f70d47ca65a627dbaa2" } } $('.js-work-strip[data-work-id=126098728]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":126098728,"title":"Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma","internal_url":"https://www.academia.edu/126098728/Mutation_analysis_of_the_genes_associated_with_anterior_segment_dysgenesis_microcornea_and_microphthalmia_in_257_patients_with_glaucoma","owner_id":45139348,"coauthors_can_edit":true,"owner":{"id":45139348,"first_name":"Qingjiong","middle_initials":null,"last_name":"Zhang","page_name":"QingjiongZhang","domain_name":"independent","created_at":"2016-03-15T02:02:43.231-07:00","display_name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"},"attachments":[{"id":120028303,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/120028303/thumbnails/1.jpg","file_name":"download.pdf","download_url":"https://www.academia.edu/attachments/120028303/download_file","bulk_download_file_name":"Mutation_analysis_of_the_genes_associate.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/120028303/download-libre.pdf?1733448667=\u0026response-content-disposition=attachment%3B+filename%3DMutation_analysis_of_the_genes_associate.pdf\u0026Expires=1740038314\u0026Signature=GEGaSOLGyVWHZHpJoe2nyCc1qWXHNVNpZeQ8qUOq7s5x0xh0bqDxMySgEBrf2PVcGS4fAm2FRc4yizq71S-UcOSmTPxY5NIeYaBZ37GVDd90wAaZALypOdzpHGTJ9P13m8HMB5VLQRj0cQJ6msr4hIXjBQ8eOnJbrZYbRkXrOrDx2nZ4idydmkmFF8evSFU2WV7lVHyDuIm3A906pdNv6hgtdsyJkECYfju3IbOE4hME37O3BEoyJRFSSrBMrDS-SOnmVOdAjZ4wxOXMuhd35AI0B6m26Oqgh9PAwlje-bap24Q7LgBU0AoQp8d3xf9PilezokoCo2Xrk~hscXFsPQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, 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="126098727"><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/126098727/Molecular_epidemiology_of_mtDNA_mutations_in_903_Chinese_families_suspected_with_Leber_hereditary_optic_neuropathy"><img alt="Research paper thumbnail of Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy" class="work-thumbnail" src="https://attachments.academia-assets.com/120028302/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/126098727/Molecular_epidemiology_of_mtDNA_mutations_in_903_Chinese_families_suspected_with_Leber_hereditary_optic_neuropathy">Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy</a></div><div class="wp-workCard_item"><span>Journal of Human Genetics</span><span>, Sep 14, 2006</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">We report the molecular epidemiology of three primary mutations in mitochondrial DNA (mtDNA) resp...</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">We report the molecular epidemiology of three primary mutations in mitochondrial DNA (mtDNA) responsible for Leber hereditary optic neuropathy (LHON) based on analysis of probands suspected with LHON from 903 Chinese families. Most of them had optic neuropathy of unknown cause, and only 128 had a family history of optic neuropathy. Mutations in the mtDNA were detected in 346 probands. Of the 346 cases, 340 were homoplasmic and only six were heteroplasmic; 284 were male and 62 were female; 120 had a family history and 226 were sporadic. G11778A, T14484C and G3460A mutations were detected in 312 (90.2%), 30, and four families, respectively. The majority (226/346, 65.3%) of all LHON cases in Chinese are sporadic. These 226 probands (29.2%) were identified from 775 probands with sporadic optic neuropathy. Affected male-to-female ratio was 4.6:1 for all probands but was 2.2:1 for family members. Average age at onset was 18.5 years, ranging from 4.5 to 47 years old.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="e4a5633cac8876bfb2f50589c153ff0f" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028302,"asset_id":126098727,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028302/download_file?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="126098727"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098727"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098727; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098727]").text(description); $(".js-view-count[data-work-id=126098727]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 126098727; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='126098727']"); 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></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.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: "e4a5633cac8876bfb2f50589c153ff0f" } } $('.js-work-strip[data-work-id=126098727]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":126098727,"title":"Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy","internal_url":"https://www.academia.edu/126098727/Molecular_epidemiology_of_mtDNA_mutations_in_903_Chinese_families_suspected_with_Leber_hereditary_optic_neuropathy","owner_id":45139348,"coauthors_can_edit":true,"owner":{"id":45139348,"first_name":"Qingjiong","middle_initials":null,"last_name":"Zhang","page_name":"QingjiongZhang","domain_name":"independent","created_at":"2016-03-15T02:02:43.231-07:00","display_name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"},"attachments":[{"id":120028302,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/120028302/thumbnails/1.jpg","file_name":"jhg2006133.pdf","download_url":"https://www.academia.edu/attachments/120028302/download_file","bulk_download_file_name":"Molecular_epidemiology_of_mtDNA_mutation.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/120028302/jhg2006133-libre.pdf?1733448647=\u0026response-content-disposition=attachment%3B+filename%3DMolecular_epidemiology_of_mtDNA_mutation.pdf\u0026Expires=1740038314\u0026Signature=KwavMQfzfbMAxgUb4sOrOsSD85T3qa9My8vaFslhs4S0XWZHEG8IpCXw59O9xlXOD4eV0SyQNbWwQcCGvNw7Plr5TqWJ7K1CXZLp07iIkO6FuDiyeerTmMQlZCMau2gsKF~s5eeSS3tgmBQVnbqg2ZAir4T3WIIyhTkJjrJEXrMiDZDCuH-vuDC6Of0Qvw8rvnI5Ze4RcrrmKG~GwwxElVQV9fGZDVabPnbWmbKWkNr7C9LPbu1hIgRJsrOSblk0M-kHwJPJokddiDYUuDb3nyWWOBjkSoRXUZAZyClQdWiJ3X1hC6dFEwDzOamQ0PQj-EzgfnC20p455vTDQlPThg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, 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="126098726"><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/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing"><img alt="Research paper thumbnail of Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing" class="work-thumbnail" src="https://attachments.academia-assets.com/120028301/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/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing">Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing</a></div><div class="wp-workCard_item"><span>Investigative Ophthalmology & Visual Science</span><span>, Dec 18, 2014</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">PURPOSE. To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 29...</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">PURPOSE. To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 298 unrelated patients with early-onset high myopia (eoHM). METHODS. Genomic DNA from 298 patients with eoHM was analyzed by whole exome sequencing. Variants in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes were selected and analyzed with bioinformatics. Potential candidate variants were confirmed by Sanger sequencing and then validated in available family members and 192 healthy controls. RESULTS. A total of nine variants predicted to affect the functional residues were detected. The LRPAP1 gene showed a homozygous frameshift mutation (c.199delC, p.Q67Sfs*8) in a consanguineous family. The ZNF644 gene showed five heterozygous missense mutations (c.1106A>T, p.K369M; c.1648G>A, p.A550T; c.2014A>G, p.S672G; c.2048G>C, p.R683T, and c.2551G>C, p.D851H) in five families, but the c.1106A>T, (p.K369M) and c.1648G>A, (p.A550T) in ZNF644 did not co-segregated with high myopia in the families and should be excluded as causative mutations. The SLC39A5 gene showed a heterozygous missense variant (c.1238G>C, p.G413A) in a sporadic individual. The SCO2 gene showed two heterozygous missense variants (c.334C>T, p.R112W and c.358C>T, p.R120W) in two families. None of the variants was detected in 192 healthy controls and all were predicted to be damaging by both Polyphen-2 and SIFT, except for the previously reported p.S672G mutation in ZNF644, which was predicted to be damaging by SIFT but benign by Polyphen-2. No homozygous or compound heterozygous variants were found in CTSH and LEPREL1. CONCLUSIONS. Our results provide additional evidence to support the idea that mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="9d0a9b6b438de98eddab49b092e7a433" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028301,"asset_id":126098726,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028301/download_file?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="126098726"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098726"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098726; 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This study aimed to investigate if such retinopathy may present as an initial sign of immunological disorders in eye clinic.MethodsThe variants in the 20 genes were selected from in-house exome sequencing data from 10,530 individuals with different eye conditions. Potential pathogenic variants were assessed by multistep bioinformatic analysis. Pathogenic variants were defined according to the ACMG/AMP criteria and confirmed by Sanger sequencing, co-segregation analysis, and consistency with related phenotypes. Ocular clinical data were thoroughly reviewed, especially fundus changes.ResultsA total of seven pathogenic variants in four of the 20 genes were detected in six probands from six families, including three with hemizygous nonsense variants p.(Q308*), p.(Q416*), and p.(R550*) in MSN, one with homozygous nonsense variants p.(...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="7e7bb1356dbb0ad9c3c59a7eb5cd2143" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028323,"asset_id":126098725,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028323/download_file?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="126098725"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098725"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098725; 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$(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="126098724"><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/126098724/Clinical_and_Genetic_Features_of_NR2E3_Associated_Retinopathy_A_Report_of_Eight_Families_with_a_Longitudinal_Study_and_Literature_Review"><img alt="Research paper thumbnail of Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review" class="work-thumbnail" src="https://attachments.academia-assets.com/120028299/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/126098724/Clinical_and_Genetic_Features_of_NR2E3_Associated_Retinopathy_A_Report_of_Eight_Families_with_a_Longitudinal_Study_and_Literature_Review">Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review</a></div><div class="wp-workCard_item"><span>Genes</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">This article is an open access article distributed under the terms and conditions of the Creative...</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">This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="f039281b3214c3578a78b28e29e43b91" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028299,"asset_id":126098724,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028299/download_file?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="126098724"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098724"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098724; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "f039281b3214c3578a78b28e29e43b91" } } $('.js-work-strip[data-work-id=126098724]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":126098724,"title":"Clinical and Genetic Features of NR2E3-Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review","internal_url":"https://www.academia.edu/126098724/Clinical_and_Genetic_Features_of_NR2E3_Associated_Retinopathy_A_Report_of_Eight_Families_with_a_Longitudinal_Study_and_Literature_Review","owner_id":45139348,"coauthors_can_edit":true,"owner":{"id":45139348,"first_name":"Qingjiong","middle_initials":null,"last_name":"Zhang","page_name":"QingjiongZhang","domain_name":"independent","created_at":"2016-03-15T02:02:43.231-07:00","display_name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"},"attachments":[{"id":120028299,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/120028299/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/120028299/download_file","bulk_download_file_name":"Clinical_and_Genetic_Features_of_NR2E3_A.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/120028299/pdf-libre.pdf?1733448657=\u0026response-content-disposition=attachment%3B+filename%3DClinical_and_Genetic_Features_of_NR2E3_A.pdf\u0026Expires=1740038314\u0026Signature=a421lb1R94Hr1TmR6LJE~k8HBrzVFgaZWrqC~darZtF47sXNudkoyh3yt6weavOumbPZNuJ3EhM-P5OsGfm9-iZpKf~QRKQYEe3~J2hHA460kJWA0AIqhe6bkt64E7RxU5jDo5S16UXA23Cj0FNh7SiBovrrXndKjm6GYAUCpez08OaS9w1LuP~umOmwD67c5O2WkiGSEKqXmF5u2Wwia4ed8SlxPzQHfTPAXlmcd5umMGBy2cp-aRHYZmt~KU6RQ79yURwWXSPptRHJuEPudqxveYcpPdEhJv-HEl7lOh7PoyMTrnC039CY3AMdiM-fx2Jrqup88xTZmHQUgIVGKg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":120028298,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/120028298/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/120028298/download_file","bulk_download_file_name":"Clinical_and_Genetic_Features_of_NR2E3_A.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/120028298/pdf-libre.pdf?1733448664=\u0026response-content-disposition=attachment%3B+filename%3DClinical_and_Genetic_Features_of_NR2E3_A.pdf\u0026Expires=1740038314\u0026Signature=Mx3ymUntKzLLnflRzwSwRoeyjF-jn~0-KA-Mx4V-9jXZEpQpeNxP9jUPf8dEvk6530sZKyjML8dLx7EgDc9Ww1Ee~PW2lC6sommEq0fEZ7ITVHaRJlXQMGnXooS2oh62Yo27sQqaqGHktZ-IIHAKowCn2JMFyemm28-HoBylX7YCfR~oEsTRPkpcp7V0VM7o3ZiFv6m6qun8xWQypV7Jd9TZyOE7~fx7w~9s8ybSkcMMMxJz4omMsYVIf7mHCxV8~lz03vDDtrPmQhft77WIXt6bndwxm-t6DFMnVJV99Rp3BQjf80RmGglIOyhn7EL8OZGsOII1pnhhusOQKZx6Fg__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, 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="126098723"><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/126098723/FDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population"><img alt="Research paper thumbnail of FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population" class="work-thumbnail" src="https://attachments.academia-assets.com/120028296/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/126098723/FDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population">FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population</a></div><div class="wp-workCard_item"><span>Genes</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expa...</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">Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome sequencing dataset of 6397 families with different eye conditions. The clinical data of the identified patients were summarized. Biallelic pathogenic or likely pathogenic FDXR variants were identified in 11 unrelated patients, including 14 missense variants of which 10 were novel. Fundus observation showed complete optic disc pallor, silver wiring or severe attenuation of retinal vessels, and varying degrees of generalized retinal degeneration. Before the detection of FDXR variants, four patients were clinically diagnosed as congenital amaurosis due to the presence of nystagmus a few months after birth, while seven were diagnosed as early-onset severe retinal dystrophy due to the presence of nyctalopia and/or poor vision in early childhood. Bial...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="7064c72f343617556641412443607325" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028296,"asset_id":126098723,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028296/download_file?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="126098723"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098723"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098723; 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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="126098722"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/126098722/Unique_Haplotypes_in_OPN1LW_as_a_Common_Cause_of_High_Myopia_With_or_Without_Protanopia_A_Potential_Window_Into_Myopic_Mechanism"><img alt="Research paper thumbnail of Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism" 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" rel="nofollow" href="https://www.academia.edu/126098722/Unique_Haplotypes_in_OPN1LW_as_a_Common_Cause_of_High_Myopia_With_or_Without_Protanopia_A_Potential_Window_Into_Myopic_Mechanism">Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism</a></div><div class="wp-workCard_item"><span>Investigative Opthalmology &amp; Visual Science</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="126098722"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098722"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098722; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098722]").text(description); $(".js-view-count[data-work-id=126098722]").attr('title', description).tooltip(); 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</script> <div class="js-work-strip profile--work_container" data-work-id="126098721"><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/126098721/New_Insight_into_the_Genotype_Phenotype_Correlation_of_PRPH2_Related_Diseases_Based_on_a_Large_Chinese_Cohort_and_Literature_Review"><img alt="Research paper thumbnail of New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review" class="work-thumbnail" src="https://attachments.academia-assets.com/120028295/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/126098721/New_Insight_into_the_Genotype_Phenotype_Correlation_of_PRPH2_Related_Diseases_Based_on_a_Large_Chinese_Cohort_and_Literature_Review">New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review</a></div><div class="wp-workCard_item"><span>International Journal of Molecular Sciences</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Variants in PRPH2 are a common cause of inherited retinal dystrophies with high genetic and pheno...</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">Variants in PRPH2 are a common cause of inherited retinal dystrophies with high genetic and phenotypic heterogeneity. In this study, variants in PRPH2 were selected from in-house exome sequencing data, and all reported PRPH2 variants were evaluated with the assistance of online prediction tools and the comparative validation of large datasets. All variants were classified based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines. Individuals with pathogenic or likely pathogenic variants of PRPH2 were confirmed by Sanger sequencing. Clinical characteristics were summarized. Ten pathogenic or likely pathogenic variants of PRPH2 were identified in 14 families. In our cohort, the most frequent variant was p.G305Afs*19, accounting for 33.3% (5/15) of alleles, in contrast to the literature, where p.R172G (11.6%, 119/1028) was the most common variant. Nine in-house families (63.8%) were diagnosed with retinitis pigmentosa (RP),...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="5a156d93e86c6dd51f0763436a5b97f2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028295,"asset_id":126098721,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028295/download_file?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="126098721"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098721"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098721; 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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="126098720"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/126098720/Clinical_features_and_genetic_spectrum_of_NMNAT1_associated_retinal_degeneration"><img alt="Research paper thumbnail of Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration" 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" rel="nofollow" href="https://www.academia.edu/126098720/Clinical_features_and_genetic_spectrum_of_NMNAT1_associated_retinal_degeneration">Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration</a></div><div class="wp-workCard_item"><span>Eye</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">To systematically analyse the NMNAT1 variant spectrum and frequency, the associated phenotypic ch...</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">To systematically analyse the NMNAT1 variant spectrum and frequency, the associated phenotypic characteristics, and potential genotype-phenotype correlations based on our data and literature review. Biallelic potential pathogenic variants (PPV) in NMNAT1 were collected from our in-house exome sequencing data. Whole-genome sequencing was conducted subsequently for patients with only one heterozygous PPV detected in NMNAT1. The clinical data were reviewed and evaluated in detail. Furthermore, the literature was reviewed for reports of NMNAT1 variants and their associated phenotypes. Eleven NMNAT1 variants, including two novel variants, were detected in 8 families from our cohort. All of the 9 available patients showed generalized tapetoretinal dystrophy at an early age (88.9% in the first decade), and disciform macular atrophy was identified in six patients from five unrelated families. Among a total of 125 patients from 8 families of our cohort and 91 families reported by the available literature, 92.9% patients showed onset of disease in the first year after birth, and 89.0% patients showed visual acuity of 0.05 or lower. All of the 39 patients with fundus photos available presented disciform macular atrophy with generalized tapetoretinal dystrophy. Most (54/80, 67.5%) of causative NMNAT1 variants were missense. The most frequent variants in Caucasian and Asian population are p.E257K and p.R237C, respectively. Early-onset age, disciform macular atrophy with generalized tapetoretinal dystrophy, and poor visual acuity are the typical features of NMNAT1-associated retinal degeneration. Different variant hot spots of NMNAT1 were observed in different populations.</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="126098720"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098720"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098720; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098720]").text(description); 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window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098719]").text(description); $(".js-view-count[data-work-id=126098719]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 126098719; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='126098719']"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></span></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.js","https://a.academia-assets.com/assets/work_edit-ad038b8c047c1a8d4fa01b402d530ff93c45fee2137a149a4a5398bc8ad67560.js"], function() { // from javascript_helper.rb var dispatcherData = {} if (false){ window.WowProfile.dispatcher = window.WowProfile.dispatcher || _.clone(Backbone.Events); 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Visual Science</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><span class="wp-workCard--action visible-if-viewed-by-owner inline-block" style="display: none;"><span class="js-profile-work-strip-edit-button-wrapper profile-work-strip-edit-button-wrapper" data-work-id="126098718"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098718"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098718; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098718]").text(description); $(".js-view-count[data-work-id=126098718]").attr('title', description).tooltip(); 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$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="4831703" id="papers"><div class="js-work-strip profile--work_container" data-work-id="127556748"><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/127556748/Novel_BMP4_Truncations_Resulted_in_Opposite_Ocular_Anomalies_Pathologic_Myopia_Rather_Than_Microphthalmia"><img alt="Research paper thumbnail of Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia" class="work-thumbnail" src="https://attachments.academia-assets.com/121273089/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/127556748/Novel_BMP4_Truncations_Resulted_in_Opposite_Ocular_Anomalies_Pathologic_Myopia_Rather_Than_Microphthalmia">Novel BMP4 Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia</a></div><div class="wp-workCard_item"><span>Frontiers in Cell and Developmental Biology</span><span>, Dec 1, 2021</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">BMP4 variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607...</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">BMP4 variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607932). This study aims to describe BMP4 truncation mutations contributing to a novel phenotype in eight patients from four Chinese families. In this study, BMP4 variants were collected from a large dataset from in-house exome sequencing. Candidate variants were filtered by multiple in silico tools as well as comparison with data from multiple databases. Potential pathogenic variants were further confirmed by Sanger sequencing and cosegregation analysis. Four novel truncation variants in BMP4 were detected in four out of 7,314 unrelated probands with different eye conditions. These four mutations in the four families solely cosegregated in all eight patients with a specific form of pathologic myopia, characterized by significantly extended axial length, posterior staphyloma, macula patchy, chorioretinal atrophy, myopic optic neuropathy or glaucoma, vitreous opacity, and unique peripheral snow-grain retinopathy. The extreme rarity of the truncations in BMP4 (classified as intolerant in the gnomAD database, pLI = 0.96), the exclusive presence of these variants in the four families with pathologic myopia, variants fully co-segregated with the same specific phenotypes in eight patients from the four families, and the association of the pathogenicity of truncations with syndromic microphthalmia in previous studies, all support a novel association of BMP4 truncations with a specific form of pathologic myopia. The data presented in this study demonstrated that heterozygous BMP4 truncations contributed to a novel phenotype: pathologic myopia rather than microphthalmia. Mutations in the same gene resulting in both high myopia and microphthalmia have been observed for a few other genes like FZD5 and PAX6, suggesting bidirectional roles of these genes in early ocular development. Further studies are expected to elucidate the molecular mechanism of the bidirectional regulation.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="cccd5a5f74750c6fa5c2412b5212c104" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":121273089,"asset_id":127556748,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/121273089/download_file?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="127556748"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="127556748"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 127556748; 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$(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="126098736"><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/126098736/Clinical_and_genetic_risk_factors_underlying_severe_consequence_identified_in_75_families_with_unilateral_high_myopia"><img alt="Research paper thumbnail of Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia" class="work-thumbnail" src="https://attachments.academia-assets.com/120028312/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/126098736/Clinical_and_genetic_risk_factors_underlying_severe_consequence_identified_in_75_families_with_unilateral_high_myopia">Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia</a></div><div class="wp-workCard_item"><span>Journal of Translational Medicine</span><span>, Jan 18, 2024</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or ...</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">Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in a large Chinese cohort. Methods A total of 75 probands with simplex uHM were included in our Pediatric and Genetic Eye Clinic. Patients with significant posterior anomalies other than myopic fundus changes were excluded. Variants were detected by exome sequencing and then analyzed through multiple-step bioinformatic and co-segregation analysis and finally confirmed by Sanger sequencing. Genetic findings were correlated with associated clinical data for analysis. Results Among the 75 probands with a mean age of 6.21 卤 4.70 years at the presentation, myopic fundus of C1 and C2 was observed in 73 (97.3%) probands. Surprisingly, specific peripheral changes were identified in 63 eyes involving 36 (48.0%) probands after extensive examination, including peripheral retinal avascular zone (74.6%, 47/63 eyes), neovascularization (54.0%), fluorescein leakage (31.7%), peripheral pigmentary changes (31.7%), and others. Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW, FRMD7, and CACNA1F; 9/20). For the peripheral retinal changes in the 20 probands, variants in Stickler syndrome-related genes were predominantly associated with retinal pigmentary changes, lattice degeneration, and retinal avascular region, while variants in genes related to FEVR were mainly associated with the avascular zone, neovascularization, and fluorescein leakage. Conclusions Genetic defects were identified in about one-fourth of simplex uHM patients in which significant consequences may be hidden under a classic myopic fundus in up to half. To our knowledge, this is the first systematic genetic study on simplex uHM to date. In addition to routine care of strabismus and amblyopia, careful examination of the peripheral retina and genetic screening is warranted for patients with uHM in order to identify signs of risk for retinal detachment and other complications and provide meaningful genetic counseling.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="21684d84ad3a37853305543a7ddaa2fe" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028312,"asset_id":126098736,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028312/download_file?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="126098736"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098736"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098736; 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We set out to investigate the treatment outcome of trabeculectomy for secondary ACG in a group of patients with autosomal recessive bestrophinopathy (ARB).</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="8496119372a177f297eb0cb1b4c208cd" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028317,"asset_id":126098735,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028317/download_file?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="126098735"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098735"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098735; 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$(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="126098734"><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/126098734/Arbutin_Protects_Retinal_Pigment_Epithelium_Against_Oxidative_Stress_by_Modulating_SIRT1_FOXO3a_PGC_1%CE%B1_%CE%B2_Pathway"><img alt="Research paper thumbnail of Arbutin Protects Retinal Pigment Epithelium Against Oxidative Stress by Modulating SIRT1/FOXO3a/PGC-1伪/尾 Pathway" class="work-thumbnail" src="https://attachments.academia-assets.com/120028311/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/126098734/Arbutin_Protects_Retinal_Pigment_Epithelium_Against_Oxidative_Stress_by_Modulating_SIRT1_FOXO3a_PGC_1%CE%B1_%CE%B2_Pathway">Arbutin Protects Retinal Pigment Epithelium Against Oxidative Stress by Modulating SIRT1/FOXO3a/PGC-1伪/尾 Pathway</a></div><div class="wp-workCard_item"><span>Frontiers in Genetics</span><span>, Aug 16, 2022</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Age-related macular degeneration (AMD), which is the leading cause of blindness among the elderly...</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">Age-related macular degeneration (AMD), which is the leading cause of blindness among the elderly in western societies, is majorly accompanied by retinal pigment epithelium (RPE) degeneration. Because of the irreversible RPE cell loss among oxidative stress, it is crucial to search for available drugs for atrophic (dry) AMD. RNA-Seq analysis revealed that genes related to aging and mitochondrial health were differentially expressed under Arbutin treatment, whereas compared to oxidative injury, our study demonstrated that Arbutin substantially abrogated oxidative stress-induced cell senescence and apoptosis linked to intracellular antioxidant enzyme system homeostasis maintenance, restored mitochondrial membrane potential (MMP), and reduced the SA-尾-GAL accumulation in RPE. Furthermore, Arbutin alleviated oxidative stress-mediated cell apoptosis and senescence via activation of SIRT1, as evidenced by the increase of the downstream FoxO3a and PGC-1伪/尾 that are related to mitochondrial biogenesis, and the suppression of NF-魏B p65 inflammasome, whereas rehabilitation of oxidative stress by SIRT1 inhibitor attenuated the protective effect of Arbutin. In conclusion, we validated the results in an in vivo model constructed by NAIO 3-injured mice. OCT and HE staining showed that Arbutin sustained retinal integrity in the case of oxidative damage in vivo, and the disorder of RPE cytochrome was alleviated through fundus observation. In summary, our findings identified that oxidative stress-induced mitochondrial malfunction and the subsequent senescence acceleration in RPE cells, whereas Arbutin inhibited TBHP-induced RPE degeneration via regulating the SIRT1/Foxo3a/PGC-1伪/尾 signaling pathway. These findings suggested that Arbutin is a new agent with potential applications in the development of AMD diseases.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="d38d73c76e53e2d614feadc67ad7d2cd" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028311,"asset_id":126098734,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028311/download_file?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="126098734"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098734"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098734; 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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="126098732"><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/126098732/A_novel_truncation_mutation_in_GJA1_associated_with_open_angle_glaucoma_and_microcornea_in_a_large_Chinese_family"><img alt="Research paper thumbnail of A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family" class="work-thumbnail" src="https://attachments.academia-assets.com/120028308/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/126098732/A_novel_truncation_mutation_in_GJA1_associated_with_open_angle_glaucoma_and_microcornea_in_a_large_Chinese_family">A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family</a></div><div class="wp-workCard_item"><span>Eye</span><span>, May 15, 2015</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Purpose To identify genetic defects in a large family with open angle glaucoma (OAG) and microcor...</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">Purpose To identify genetic defects in a large family with open angle glaucoma (OAG) and microcornea. Methods Genomic DNA was prepared from leukocytes of 15 individuals from three generations of a Chinese family, including seven individuals with OAG and microcornea, one with microcornea alone, and seven healthy individuals. Whole exome sequencing was performed on genomic DNA of the proband. Candidate variants were obtained through multiple steps of bioinformatics analysis and validated by Sanger sequencing and segregation analysis. Results Exome sequencing detected a candidate variant in GJA1, a novel truncation mutation (c.791_792delAA, p.K264Ifs*43). This mutation was present in all seven individuals with OAG and microcornea and the individual with microcornea alone, but not in the seven unaffected relatives in the family. It was not present in 1394 alleles from 505 unrelated controls without glaucoma and 192 normal controls. Extraocular signs were not observed in seven out of the eight individuals; only one was affected with dental enamel hypoplasia and syndactyly. Conclusions A novel truncation mutation in GJA1 is associated with OAG and microcornea in a Chinese family. This suggests that GJA1 should be included as a candidate gene for glaucoma.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="edf15a2deb011a94904283e3dfe43be0" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028308,"asset_id":126098732,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028308/download_file?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="126098732"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098732"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098732; 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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="126098731"><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/126098731/Mitochondrial_DNA_mutation_m_10680G_and_gt_A_is_associated_with_Leber_hereditary_optic_neuropathy_in_Chinese_patients"><img alt="Research paper thumbnail of Mitochondrial DNA mutation m.10680G &gt; A is associated with Leber hereditary optic neuropathy in Chinese patients" class="work-thumbnail" src="https://attachments.academia-assets.com/120028316/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/126098731/Mitochondrial_DNA_mutation_m_10680G_and_gt_A_is_associated_with_Leber_hereditary_optic_neuropathy_in_Chinese_patients">Mitochondrial DNA mutation m.10680G &gt; A is associated with Leber hereditary optic neuropathy in Chinese patients</a></div><div class="wp-workCard_item"><span>Journal of Translational Medicine</span><span>, Mar 9, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with gender bias...</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">Background: Leber hereditary optic neuropathy (LHON) is a mitochondrial disorder with gender biased and incomplete penetrance. The majority of LHON patients are caused by one of the three primary mutations (m.3460G > A, m.11778G > A and m.14484T > C). Rare pathogenic mutations have been occasionally reported in LHON patients. Methods: We screened mutation m.10680G > A in the MT-ND4L gene in 774 Chinese patients with clinical features of LHON but lacked the three primary mutations by using allele specific PCR (AS-PCR). Patients with m.10680G > A were further determined entire mtDNA genome sequence. Results: The optimal AS-PCR could detect as low as 10% heteroplasmy of mutation m.10680G > A. Two patients (Le1263 and Le1330) were identified to harbor m.10680G > A. Analysis of the complete mtDNA sequences of the probands suggested that they belonged to haplogroups B4a1 and D6a1. There was no other potentially pathogenic mutation, except for a few private yet reported variants in the MT-ND1 and MT-ND5 genes, in the two lineages. A search in reported mtDNA genome data set (n = 9277; excluding Chinese LHON patients) identified no individual with m.10680G > A. Frequency of m.10680G > A in Chinese LHON patients analyzed in this study and our previous studies (3/784) was significantly higher than that of the general populations (0/9277) (P = 0.0005). Conclusion: Taken together, we speculated that m.10680G > A may be a rare pathogenic mutation for LHON in Chinese. This mutation should be included in future clinical diagnosis.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="0bb04632954d8258aaed78c7c6d8af07" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028316,"asset_id":126098731,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028316/download_file?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="126098731"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098731"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098731; 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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="126098730"><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/126098730/High_Myopia_Is_Not_Associated_with_the_SNPs_in_the_i_TGIF_i_Lumican_i_TGFB1_i_and_i_HGF_i_Genes"><img alt="Research paper thumbnail of High Myopia Is Not Associated with the SNPs in the<i>TGIF</i>, Lumican,<i>TGFB1</i>, and<i>HGF</i>Genes" class="work-thumbnail" src="https://attachments.academia-assets.com/120028306/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/126098730/High_Myopia_Is_Not_Associated_with_the_SNPs_in_the_i_TGIF_i_Lumican_i_TGFB1_i_and_i_HGF_i_Genes">High Myopia Is Not Associated with the SNPs in the<i>TGIF</i>, Lumican,<i>TGFB1</i>, and<i>HGF</i>Genes</a></div><div class="wp-workCard_item"><span>Investigative Ophthalmology & Visual Science</span><span>, Apr 1, 2009</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">PURPOSE. Four single-nucleotide polymorphisms (SNPs) in the TGIF, lumican, TGFB1, and HGF genes h...</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">PURPOSE. Four single-nucleotide polymorphisms (SNPs) in the TGIF, lumican, TGFB1, and HGF genes have been declared to be associated with high myopia in Chinese living in southeast China, but none of them has been confirmed by additional studies. This study was conducted to verify the reported positive association results by analysis of subjects from the same region. METHODS. DNA was prepared from venous leukocytes of 288 patients with high myopia and 208 control subjects. The four SNPs (rs2229336, rs3759223, rs1982073, and rs3735520) in the four genes were genotyped by restriction fragment length polymorphism (RFLP) analysis. The allele and genotype frequencies of these SNPs from patients and control subjects were compared by 2 test. RESULTS. Polymorphism at rs2229336 was not detected in all 496 subjects. There were no statistically significant differences between patients and control subjects for the other three SNPs: rs3759223, rs1982073, and rs3735520. CONCLUSIONS. The study does not support the association of high myopia with alleles of rs2229336 in TGIF, rs3759223 in lumican, rs1982073 in TGFB1, and rs3735520 in HGF. These results provide a view contrary to those in previous reports. Reasonable criteria as well as replication should be the first priority for genetic association studies to avoid excessive expansion of false-positive results, especially for high myopia.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="25af1b2d72cb65ce3e5c7a9dc0889512" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028306,"asset_id":126098730,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028306/download_file?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="126098730"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098730"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098730; 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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="126098729"><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/126098729/Confirmation_and_refinement_of_an_autosomal_dominant_congenital_motor_nystagmus_locus_in_chromosome_1q31_3_q32_1"><img alt="Research paper thumbnail of Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3鈥搎32.1" class="work-thumbnail" src="https://attachments.academia-assets.com/120028304/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/126098729/Confirmation_and_refinement_of_an_autosomal_dominant_congenital_motor_nystagmus_locus_in_chromosome_1q31_3_q32_1">Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3鈥搎32.1</a></div><div class="wp-workCard_item"><span>Journal of Human Genetics</span><span>, Aug 23, 2012</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations. T...</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">Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations. To identify the disease locus for autosomal dominant CMN in a Chinese family 86001, clinical data, including slit lamp and funduscopic examination and blood samples were collected from family. Genomic DNA was prepared from leukocytes, and a genome-wide linkage scan was performed using 382 polymorphic microsatellite markers and two-point linkage analysis using the logarithm of odds (LOD) score method as implemented in the LINKAGE program package. Maximum two-point scores were calculated using ILINK, and LINKMAP was used for multipoint analysis. All nine affected individuals in the family showed typical phenotypes for CMN. Maximum two-point LOD scores (3.61 at h 录 0) were obtained with D1S2619, D1S2877 and D1S2622.The 24.6 cM (28.07 Mb) linked region is flanked by markers D1S218 and D1S2655, placing the disease locus on chromosome 1q25.2-1q32.1. Multipoint analysis confirmed linkage to the region of D1S218 and D1S2655 with Maximum two-point scores of 3.61. The linkage interval overlaps with that of a newly reported CMN locus on 1q31-q32.2 and narrows down the linked region to 5.90 cM (5.92 Mb). This study confirms and refines a novel locus for autosomal dominant CMN to chromosome 1q31.3-q32.1 (5.90 cM) and demonstrates its presence in the Chinese population.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="391c49204183254040580c9c0457d607" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028304,"asset_id":126098729,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028304/download_file?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="126098729"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098729"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098729; 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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="126098728"><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/126098728/Mutation_analysis_of_the_genes_associated_with_anterior_segment_dysgenesis_microcornea_and_microphthalmia_in_257_patients_with_glaucoma"><img alt="Research paper thumbnail of Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma" class="work-thumbnail" src="https://attachments.academia-assets.com/120028303/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/126098728/Mutation_analysis_of_the_genes_associated_with_anterior_segment_dysgenesis_microcornea_and_microphthalmia_in_257_patients_with_glaucoma">Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma</a></div><div class="wp-workCard_item"><span>International Journal of Molecular Medicine</span><span>, Aug 24, 2015</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Genetic factors have an important role in the development of glaucoma; however, the exact genetic...</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">Genetic factors have an important role in the development of glaucoma; however, the exact genetic defects remain to be identified in the majority of patients. Glaucoma is frequently observed in patients with anterior segment dysgenesis (ASD), microcornea or microphthalmia. The present study aimed to detect the potential mutations in the genes associated with ASD, microcornea and microphthalmia in 257 patients with glaucoma. Variants in 43 of the 46 genes, which are associated with ASD, microcornea or microphthalmia, were available in whole-exome sequencing. Candidate variants in the 43 genes were selected following multi-step bioinformatic analysis and were subsequently confirmed by Sanger sequencing. Confirmed variants were further validated by segregation analysis and analysis of controls. Overall, 70 candidate variants were selected from whole-exome sequencing, of which 53 (75.7%) were confirmed by Sanger sequencing. In total, 27 of the 53 were considered potentially pathogenic based on bioinformatic analysis and analysis of controls. Of the 27, 6 were identified in BEST1, 4 in EYA1, 3 in GDF6, 2 in BMP4, 2 in CRYBA4, 2 in HCCS, and 1 in each of CRYAA, CRYGC, CRYGD, COL4A1, FOXC1, GJA8, PITX2 and SHH. The 27 variants were detected in 28 of 257 (10.9%) patients, including 11 of 125 patients with primary open-angle glaucoma and 17 of 132 patients with primary angle-closure glaucoma. Variants in these genes may be a potential risk factor for primary glaucoma. Careful clinical observation and analysis of additional patients in different populations are expected to further these findings.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="f0ff4ea317fb8f70d47ca65a627dbaa2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028303,"asset_id":126098728,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028303/download_file?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="126098728"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098728"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098728; 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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="126098727"><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/126098727/Molecular_epidemiology_of_mtDNA_mutations_in_903_Chinese_families_suspected_with_Leber_hereditary_optic_neuropathy"><img alt="Research paper thumbnail of Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy" class="work-thumbnail" src="https://attachments.academia-assets.com/120028302/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/126098727/Molecular_epidemiology_of_mtDNA_mutations_in_903_Chinese_families_suspected_with_Leber_hereditary_optic_neuropathy">Molecular epidemiology of mtDNA mutations in 903 Chinese families suspected with Leber hereditary optic neuropathy</a></div><div class="wp-workCard_item"><span>Journal of Human Genetics</span><span>, Sep 14, 2006</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">We report the molecular epidemiology of three primary mutations in mitochondrial DNA (mtDNA) resp...</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">We report the molecular epidemiology of three primary mutations in mitochondrial DNA (mtDNA) responsible for Leber hereditary optic neuropathy (LHON) based on analysis of probands suspected with LHON from 903 Chinese families. Most of them had optic neuropathy of unknown cause, and only 128 had a family history of optic neuropathy. Mutations in the mtDNA were detected in 346 probands. Of the 346 cases, 340 were homoplasmic and only six were heteroplasmic; 284 were male and 62 were female; 120 had a family history and 226 were sporadic. G11778A, T14484C and G3460A mutations were detected in 312 (90.2%), 30, and four families, respectively. The majority (226/346, 65.3%) of all LHON cases in Chinese are sporadic. These 226 probands (29.2%) were identified from 775 probands with sporadic optic neuropathy. Affected male-to-female ratio was 4.6:1 for all probands but was 2.2:1 for family members. Average age at onset was 18.5 years, ranging from 4.5 to 47 years old.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="e4a5633cac8876bfb2f50589c153ff0f" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028302,"asset_id":126098727,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028302/download_file?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="126098727"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098727"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098727; 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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="126098726"><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/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing"><img alt="Research paper thumbnail of Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing" class="work-thumbnail" src="https://attachments.academia-assets.com/120028301/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/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing">Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing</a></div><div class="wp-workCard_item"><span>Investigative Ophthalmology & Visual Science</span><span>, Dec 18, 2014</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">PURPOSE. To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 29...</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">PURPOSE. To evaluate variants in the LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes in 298 unrelated patients with early-onset high myopia (eoHM). METHODS. Genomic DNA from 298 patients with eoHM was analyzed by whole exome sequencing. Variants in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 genes were selected and analyzed with bioinformatics. Potential candidate variants were confirmed by Sanger sequencing and then validated in available family members and 192 healthy controls. RESULTS. A total of nine variants predicted to affect the functional residues were detected. The LRPAP1 gene showed a homozygous frameshift mutation (c.199delC, p.Q67Sfs*8) in a consanguineous family. The ZNF644 gene showed five heterozygous missense mutations (c.1106A>T, p.K369M; c.1648G>A, p.A550T; c.2014A>G, p.S672G; c.2048G>C, p.R683T, and c.2551G>C, p.D851H) in five families, but the c.1106A>T, (p.K369M) and c.1648G>A, (p.A550T) in ZNF644 did not co-segregated with high myopia in the families and should be excluded as causative mutations. The SLC39A5 gene showed a heterozygous missense variant (c.1238G>C, p.G413A) in a sporadic individual. The SCO2 gene showed two heterozygous missense variants (c.334C>T, p.R112W and c.358C>T, p.R120W) in two families. None of the variants was detected in 192 healthy controls and all were predicted to be damaging by both Polyphen-2 and SIFT, except for the previously reported p.S672G mutation in ZNF644, which was predicted to be damaging by SIFT but benign by Polyphen-2. No homozygous or compound heterozygous variants were found in CTSH and LEPREL1. CONCLUSIONS. Our results provide additional evidence to support the idea that mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="9d0a9b6b438de98eddab49b092e7a433" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028301,"asset_id":126098726,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028301/download_file?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="126098726"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098726"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098726; 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dispatcherData = { dispatcher: window.WowProfile.dispatcher, downloadLinkId: "9d0a9b6b438de98eddab49b092e7a433" } } $('.js-work-strip[data-work-id=126098726]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":126098726,"title":"Detection of Mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 Families With Early-Onset High Myopia by Exome Sequencing","internal_url":"https://www.academia.edu/126098726/Detection_of_Mutations_in_LRPAP1_CTSH_LEPREL1_ZNF644_SLC39A5_and_SCO2_in_298_Families_With_Early_Onset_High_Myopia_by_Exome_Sequencing","owner_id":45139348,"coauthors_can_edit":true,"owner":{"id":45139348,"first_name":"Qingjiong","middle_initials":null,"last_name":"Zhang","page_name":"QingjiongZhang","domain_name":"independent","created_at":"2016-03-15T02:02:43.231-07:00","display_name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"},"attachments":[{"id":120028301,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/120028301/thumbnails/1.jpg","file_name":"i1552-5783-56-1-339.pdf","download_url":"https://www.academia.edu/attachments/120028301/download_file","bulk_download_file_name":"Detection_of_Mutations_in_LRPAP1_CTSH_LE.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/120028301/i1552-5783-56-1-339-libre.pdf?1733448650=\u0026response-content-disposition=attachment%3B+filename%3DDetection_of_Mutations_in_LRPAP1_CTSH_LE.pdf\u0026Expires=1739992427\u0026Signature=eU6GNR5cOmj0O-mX-93MsvY2ISri53bSxSAyCUQ0UKUqQTYmEi-qbufY4pqm6c34JWpc85iFCbYmCDd7Li-AThsRFmw8bjkPaQLYJ9Q6z~IMtL4k3ECkzztMRLSfNSrkm-V039d1dCU30G6CrElRBeTbsEkcZPK0HqhklxWFRfnR33tPj43XVtApUyrq1WSc5VP5WIoRivUpSTYE6uZ2NNVhGC6y~GqfOR~kZlAqDPEJqQk4p98D-qARxMY-v5cjsevLYGf3PMiPyGwhmbPBvZn9TlKNcT2rb90weZjqh-YihBpt1F6GYKn6jLft0NOjR1mGEGKiLUWjK23kSjC46A__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"},{"id":120028300,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/120028300/thumbnails/1.jpg","file_name":"i1552-5783-56-1-339.pdf","download_url":"https://www.academia.edu/attachments/120028300/download_file","bulk_download_file_name":"Detection_of_Mutations_in_LRPAP1_CTSH_LE.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/120028300/i1552-5783-56-1-339-libre.pdf?1733448653=\u0026response-content-disposition=attachment%3B+filename%3DDetection_of_Mutations_in_LRPAP1_CTSH_LE.pdf\u0026Expires=1739992427\u0026Signature=OLPoavvZvAmpj4-bXk~QDo6DiNybjkxk9LmFFqVWX9G--u1FxivVbhOcCJ2G65Mp8yJC5f7oewjtHNEsi71p2cZf4kCG8gz1fUTKzBInjlqI49EZ4yrn-iklRDlc26SB8qLT9H6YF30F4wkJuzWlc0T0iAY3h3DTug3gDa8-MEkw99ZfbNoOuPDkvNrlSm2iukdeGaObW4n8EnQuCdgXTBkvcnJbe3VZ2SzSjgCmf3e~k4RzPKejXz6rhGHoIhakAEj4lfwRxS7DMVm9XxYUpAX0sGaXTpV6YNhWQHu~XDT~M5hH-MXOU4hXZOYxOIbJCsaQXN6y6TsnylI-gy7vfA__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, 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="126098725"><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/126098725/Retinopathy_as_an_initial_sign_of_hereditary_immunological_diseases_report_of_six_families_and_challenges_in_eye_clinic"><img alt="Research paper thumbnail of Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic" class="work-thumbnail" src="https://attachments.academia-assets.com/120028323/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/126098725/Retinopathy_as_an_initial_sign_of_hereditary_immunological_diseases_report_of_six_families_and_challenges_in_eye_clinic">Retinopathy as an initial sign of hereditary immunological diseases: report of six families and challenges in eye clinic</a></div><div class="wp-workCard_item"><span>Frontiers in Immunology</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">IntroductionRetinal degenerative or inflammatory changes may occur with hereditary immunological ...</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">IntroductionRetinal degenerative or inflammatory changes may occur with hereditary immunological disorders (HID) due to variants in approximately 20 genes. This study aimed to investigate if such retinopathy may present as an initial sign of immunological disorders in eye clinic.MethodsThe variants in the 20 genes were selected from in-house exome sequencing data from 10,530 individuals with different eye conditions. Potential pathogenic variants were assessed by multistep bioinformatic analysis. Pathogenic variants were defined according to the ACMG/AMP criteria and confirmed by Sanger sequencing, co-segregation analysis, and consistency with related phenotypes. Ocular clinical data were thoroughly reviewed, especially fundus changes.ResultsA total of seven pathogenic variants in four of the 20 genes were detected in six probands from six families, including three with hemizygous nonsense variants p.(Q308*), p.(Q416*), and p.(R550*) in MSN, one with homozygous nonsense variants p.(...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="7e7bb1356dbb0ad9c3c59a7eb5cd2143" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028323,"asset_id":126098725,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028323/download_file?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="126098725"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098725"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098725; 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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="126098723"><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/126098723/FDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population"><img alt="Research paper thumbnail of FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population" class="work-thumbnail" src="https://attachments.academia-assets.com/120028296/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/126098723/FDXR_Associated_Oculopathy_Congenital_Amaurosis_and_Early_Onset_Severe_Retinal_Dystrophy_as_Common_Presenting_Features_in_a_Chinese_Population">FDXR-Associated Oculopathy: Congenital Amaurosis and Early-Onset Severe Retinal Dystrophy as Common Presenting Features in a Chinese Population</a></div><div class="wp-workCard_item"><span>Genes</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expa...</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">Variants in FDXR reportedly cause autosomal recessive auditory neuropathy and optic atrophy, expanding to retinal dystrophy. This study aimed to further clarify associated phenotypes. FDXR variants were selected from our in-house whole-exome sequencing dataset of 6397 families with different eye conditions. The clinical data of the identified patients were summarized. Biallelic pathogenic or likely pathogenic FDXR variants were identified in 11 unrelated patients, including 14 missense variants of which 10 were novel. Fundus observation showed complete optic disc pallor, silver wiring or severe attenuation of retinal vessels, and varying degrees of generalized retinal degeneration. Before the detection of FDXR variants, four patients were clinically diagnosed as congenital amaurosis due to the presence of nystagmus a few months after birth, while seven were diagnosed as early-onset severe retinal dystrophy due to the presence of nyctalopia and/or poor vision in early childhood. Bial...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="7064c72f343617556641412443607325" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028296,"asset_id":126098723,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028296/download_file?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="126098723"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098723"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098723; 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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="126098722"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/126098722/Unique_Haplotypes_in_OPN1LW_as_a_Common_Cause_of_High_Myopia_With_or_Without_Protanopia_A_Potential_Window_Into_Myopic_Mechanism"><img alt="Research paper thumbnail of Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism" 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" rel="nofollow" href="https://www.academia.edu/126098722/Unique_Haplotypes_in_OPN1LW_as_a_Common_Cause_of_High_Myopia_With_or_Without_Protanopia_A_Potential_Window_Into_Myopic_Mechanism">Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism</a></div><div class="wp-workCard_item"><span>Investigative Opthalmology &amp; Visual Science</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="126098722"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098722"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098722; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098722]").text(description); $(".js-view-count[data-work-id=126098722]").attr('title', description).tooltip(); 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</script> <div class="js-work-strip profile--work_container" data-work-id="126098721"><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/126098721/New_Insight_into_the_Genotype_Phenotype_Correlation_of_PRPH2_Related_Diseases_Based_on_a_Large_Chinese_Cohort_and_Literature_Review"><img alt="Research paper thumbnail of New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review" class="work-thumbnail" src="https://attachments.academia-assets.com/120028295/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/126098721/New_Insight_into_the_Genotype_Phenotype_Correlation_of_PRPH2_Related_Diseases_Based_on_a_Large_Chinese_Cohort_and_Literature_Review">New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review</a></div><div class="wp-workCard_item"><span>International Journal of Molecular Sciences</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">Variants in PRPH2 are a common cause of inherited retinal dystrophies with high genetic and pheno...</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">Variants in PRPH2 are a common cause of inherited retinal dystrophies with high genetic and phenotypic heterogeneity. In this study, variants in PRPH2 were selected from in-house exome sequencing data, and all reported PRPH2 variants were evaluated with the assistance of online prediction tools and the comparative validation of large datasets. All variants were classified based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines. Individuals with pathogenic or likely pathogenic variants of PRPH2 were confirmed by Sanger sequencing. Clinical characteristics were summarized. Ten pathogenic or likely pathogenic variants of PRPH2 were identified in 14 families. In our cohort, the most frequent variant was p.G305Afs*19, accounting for 33.3% (5/15) of alleles, in contrast to the literature, where p.R172G (11.6%, 119/1028) was the most common variant. Nine in-house families (63.8%) were diagnosed with retinitis pigmentosa (RP),...</span></div><div class="wp-workCard_item wp-workCard--actions"><span class="work-strip-bookmark-button-container"></span><a id="5a156d93e86c6dd51f0763436a5b97f2" class="wp-workCard--action" rel="nofollow" data-click-track="profile-work-strip-download" data-download="{"attachment_id":120028295,"asset_id":126098721,"asset_type":"Work","button_location":"profile"}" href="https://www.academia.edu/attachments/120028295/download_file?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="126098721"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098721"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098721; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098721]").text(description); $(".js-view-count[data-work-id=126098721]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 126098721; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='126098721']"); 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></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.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: "5a156d93e86c6dd51f0763436a5b97f2" } } $('.js-work-strip[data-work-id=126098721]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":126098721,"title":"New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review","internal_url":"https://www.academia.edu/126098721/New_Insight_into_the_Genotype_Phenotype_Correlation_of_PRPH2_Related_Diseases_Based_on_a_Large_Chinese_Cohort_and_Literature_Review","owner_id":45139348,"coauthors_can_edit":true,"owner":{"id":45139348,"first_name":"Qingjiong","middle_initials":null,"last_name":"Zhang","page_name":"QingjiongZhang","domain_name":"independent","created_at":"2016-03-15T02:02:43.231-07:00","display_name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"},"attachments":[{"id":120028295,"title":"","file_type":"pdf","scribd_thumbnail_url":"https://attachments.academia-assets.com/120028295/thumbnails/1.jpg","file_name":"pdf.pdf","download_url":"https://www.academia.edu/attachments/120028295/download_file","bulk_download_file_name":"New_Insight_into_the_Genotype_Phenotype.pdf","bulk_download_url":"https://d1wqtxts1xzle7.cloudfront.net/120028295/pdf-libre.pdf?1733448666=\u0026response-content-disposition=attachment%3B+filename%3DNew_Insight_into_the_Genotype_Phenotype.pdf\u0026Expires=1740038314\u0026Signature=IUpNY0YD0rCNyMekEV-Pc361J0Ur~KDUICA0YWz0g9ti7-64RVzFVp5D1CXEZXy370Z9PZ8sF7oIDLPPbvb1xxvmc8kYY80w8iT-z7ftd~0hb35MDcDlRVxoNNYKHvlEC01O4Dg1ZZ8-7qQVJAgdmYkPEV3H9lymcA1AmrfvO~2rfD7N52blKdPjt3PwA~UoWL3yGmBN2hMRewvvpfLgvOrrSx~AcDpLjuO6q~bpCsGWxYPkGPMCjukS5B0qpEsF1Ld9bk0hrZ21PFbXW-c8X1fVaW39GJtq7OROVoT4U6mhEmeBx~LMXYSsmEW4eXh-DB~JXFVr9CGInjqXvRryvQ__\u0026Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA"}]}, 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="126098720"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/126098720/Clinical_features_and_genetic_spectrum_of_NMNAT1_associated_retinal_degeneration"><img alt="Research paper thumbnail of Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration" 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" rel="nofollow" href="https://www.academia.edu/126098720/Clinical_features_and_genetic_spectrum_of_NMNAT1_associated_retinal_degeneration">Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration</a></div><div class="wp-workCard_item"><span>Eye</span></div><div class="wp-workCard_item"><span class="js-work-more-abstract-truncated">To systematically analyse the NMNAT1 variant spectrum and frequency, the associated phenotypic ch...</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">To systematically analyse the NMNAT1 variant spectrum and frequency, the associated phenotypic characteristics, and potential genotype-phenotype correlations based on our data and literature review. Biallelic potential pathogenic variants (PPV) in NMNAT1 were collected from our in-house exome sequencing data. Whole-genome sequencing was conducted subsequently for patients with only one heterozygous PPV detected in NMNAT1. The clinical data were reviewed and evaluated in detail. Furthermore, the literature was reviewed for reports of NMNAT1 variants and their associated phenotypes. Eleven NMNAT1 variants, including two novel variants, were detected in 8 families from our cohort. All of the 9 available patients showed generalized tapetoretinal dystrophy at an early age (88.9% in the first decade), and disciform macular atrophy was identified in six patients from five unrelated families. Among a total of 125 patients from 8 families of our cohort and 91 families reported by the available literature, 92.9% patients showed onset of disease in the first year after birth, and 89.0% patients showed visual acuity of 0.05 or lower. All of the 39 patients with fundus photos available presented disciform macular atrophy with generalized tapetoretinal dystrophy. Most (54/80, 67.5%) of causative NMNAT1 variants were missense. The most frequent variants in Caucasian and Asian population are p.E257K and p.R237C, respectively. Early-onset age, disciform macular atrophy with generalized tapetoretinal dystrophy, and poor visual acuity are the typical features of NMNAT1-associated retinal degeneration. Different variant hot spots of NMNAT1 were observed in different populations.</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="126098720"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098720"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098720; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098720]").text(description); 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window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098719]").text(description); $(".js-view-count[data-work-id=126098719]").attr('title', description).tooltip(); }); });</script></span></span><span><span class="percentile-widget hidden"><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 126098719; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-work-strip[data-work-id='126098719']"); 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></div><div id="work-strip-premium-row-container"></div></div></div><script> require.config({ waitSeconds: 90 })(["https://a.academia-assets.com/assets/wow_profile-a9bf3a2bc8c89fa2a77156577594264ee8a0f214d74241bc0fcd3f69f8d107ac.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" } } $('.js-work-strip[data-work-id=126098719]').each(function() { if (!$(this).data('initialized')) { new WowProfile.WorkStripView({ el: this, workJSON: {"id":126098719,"title":"Truncation mutations in MYRF underlie primary angle closure glaucoma","internal_url":"https://www.academia.edu/126098719/Truncation_mutations_in_MYRF_underlie_primary_angle_closure_glaucoma","owner_id":45139348,"coauthors_can_edit":true,"owner":{"id":45139348,"first_name":"Qingjiong","middle_initials":null,"last_name":"Zhang","page_name":"QingjiongZhang","domain_name":"independent","created_at":"2016-03-15T02:02:43.231-07:00","display_name":"Qingjiong Zhang","url":"https://independent.academia.edu/QingjiongZhang"},"attachments":[]}, 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="126098718"><div class="profile--work_thumbnail hidden-xs"><a class="js-work-strip-work-link" data-click-track="profile-work-strip-thumbnail" rel="nofollow" href="https://www.academia.edu/126098718/Clinical_and_Genetic_Analysis_ofRDH12_Associated_Retinopathy_in_27_Chinese_Families_A_Hypomorphic_Allele_Leads_to_Cone_Rod_Dystrophy"><img alt="Research paper thumbnail of Clinical and Genetic Analysis ofRDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy" 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" rel="nofollow" href="https://www.academia.edu/126098718/Clinical_and_Genetic_Analysis_ofRDH12_Associated_Retinopathy_in_27_Chinese_Families_A_Hypomorphic_Allele_Leads_to_Cone_Rod_Dystrophy">Clinical and Genetic Analysis ofRDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy</a></div><div class="wp-workCard_item"><span>Investigative Opthalmology &amp; Visual Science</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="126098718"><a class="js-profile-work-strip-edit-button" tabindex="0"><span><i class="fa fa-pencil"></i></span><span>Edit</span></a></span></span></div><div class="wp-workCard_item wp-workCard--stats"><span><span><span class="js-view-count view-count u-mr2x" data-work-id="126098718"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 126098718; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=126098718]").text(description); $(".js-view-count[data-work-id=126098718]").attr('title', description).tooltip(); 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