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-webkit-line-clamp: 3; -webkit-box-orient: vertical; }</style><div class="col-xs-12 clearfix"><div class="u-floatLeft"><h1 class="PageHeader-title u-m0x u-fs30">Mutation</h1><div class="u-tcGrayDark">27,202 Followers</div><div class="u-tcGrayDark u-mt2x">Recent papers in <b>Mutation</b></div></div></div></div></div></div><div class="TabbedNavigation"><div class="container"><div class="row"><div class="col-xs-12 clearfix"><ul class="nav u-m0x u-p0x list-inline u-displayFlex"><li class="active"><a href="https://www.academia.edu/Documents/in/Mutation">Top Papers</a></li><li><a href="https://www.academia.edu/Documents/in/Mutation/MostCited">Most Cited Papers</a></li><li><a href="https://www.academia.edu/Documents/in/Mutation/MostDownloaded">Most Downloaded Papers</a></li><li><a href="https://www.academia.edu/Documents/in/Mutation/MostRecent">Newest Papers</a></li><li><a class="" href="https://www.academia.edu/People/Mutation">People</a></li></ul></div><style 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respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/21993975" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="2c89595d116d1db13abe512cd2b9c0d0" rel="nofollow" data-download="{"attachment_id":42699352,"asset_id":21993975,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" 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container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_21993975 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="21993975"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 21993975; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=21993975]").text(description); $(".js-view-count-work_21993975").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_21993975").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="21993975"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">19</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="4228" href="https://www.academia.edu/Documents/in/Skeletal_muscle_biology">Skeletal muscle biology</a>, <script data-card-contents-for-ri="4228" type="text/json">{"id":4228,"name":"Skeletal muscle biology","url":"https://www.academia.edu/Documents/in/Skeletal_muscle_biology?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="36213" href="https://www.academia.edu/Documents/in/Energy_Metabolism">Energy Metabolism</a>, <script data-card-contents-for-ri="36213" type="text/json">{"id":36213,"name":"Energy Metabolism","url":"https://www.academia.edu/Documents/in/Energy_Metabolism?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="64933" href="https://www.academia.edu/Documents/in/Child">Child</a>, <script data-card-contents-for-ri="64933" type="text/json">{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="74780" href="https://www.academia.edu/Documents/in/Mutation">Mutation</a><script data-card-contents-for-ri="74780" type="text/json">{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=21993975]'), work: {"id":21993975,"title":"ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency","created_at":"2016-02-15T04:28:18.623-08:00","url":"https://www.academia.edu/21993975/ETFDH_mutations_CoQ10_levels_and_respiratory_chain_activities_in_patients_with_riboflavin_responsive_multiple_acyl_CoA_dehydrogenase_deficiency?f_ri=74780","dom_id":"work_21993975","summary":null,"downloadable_attachments":[{"id":42699352,"asset_id":21993975,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":43250037,"first_name":"Ichizo","last_name":"Nishino","domain_name":"independent","page_name":"IchizoNishino","display_name":"Ichizo Nishino","profile_url":"https://independent.academia.edu/IchizoNishino?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":4228,"name":"Skeletal muscle biology","url":"https://www.academia.edu/Documents/in/Skeletal_muscle_biology?f_ri=74780","nofollow":false},{"id":36213,"name":"Energy Metabolism","url":"https://www.academia.edu/Documents/in/Energy_Metabolism?f_ri=74780","nofollow":false},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child?f_ri=74780","nofollow":false},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false},{"id":83359,"name":"Electron Transfer","url":"https://www.academia.edu/Documents/in/Electron_Transfer?f_ri=74780"},{"id":94451,"name":"Taiwan","url":"https://www.academia.edu/Documents/in/Taiwan?f_ri=74780"},{"id":133057,"name":"Young Adult","url":"https://www.academia.edu/Documents/in/Young_Adult?f_ri=74780"},{"id":159283,"name":"Mitochondrial Respiratory Chain","url":"https://www.academia.edu/Documents/in/Mitochondrial_Respiratory_Chain?f_ri=74780"},{"id":186094,"name":"Electron Transport","url":"https://www.academia.edu/Documents/in/Electron_Transport?f_ri=74780"},{"id":186234,"name":"Medical Physiology","url":"https://www.academia.edu/Documents/in/Medical_Physiology?f_ri=74780"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences?f_ri=74780"},{"id":295453,"name":"L-carnitine","url":"https://www.academia.edu/Documents/in/L-carnitine?f_ri=74780"},{"id":407854,"name":"Neuromuscular Disorders","url":"https://www.academia.edu/Documents/in/Neuromuscular_Disorders?f_ri=74780"},{"id":561987,"name":"Asian Continental Ancestry Group","url":"https://www.academia.edu/Documents/in/Asian_Continental_Ancestry_Group?f_ri=74780"},{"id":900002,"name":"Metabolic Disorder","url":"https://www.academia.edu/Documents/in/Metabolic_Disorder?f_ri=74780"},{"id":1155960,"name":"Neuromuscular","url":"https://www.academia.edu/Documents/in/Neuromuscular?f_ri=74780"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences?f_ri=74780"},{"id":1489115,"name":"Age of Onset","url":"https://www.academia.edu/Documents/in/Age_of_Onset?f_ri=74780"},{"id":1573017,"name":"Riboflavin","url":"https://www.academia.edu/Documents/in/Riboflavin?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_61124960" data-work_id="61124960" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/61124960/Distinct_patterns_of_APP_processing_in_the_CNS_in_autosomal_dominant_and_sporadic_Alzheimer_disease">Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/61124960" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="a17c1aad2ad7e10c9b68168fe1376966" rel="nofollow" data-download="{"attachment_id":74274665,"asset_id":61124960,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/74274665/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="149928559" href="https://noente.academia.edu/DanielAlcolea">Daniel Alcolea</a><script data-card-contents-for-user="149928559" type="text/json">{"id":149928559,"first_name":"Daniel","last_name":"Alcolea","domain_name":"noente","page_name":"DanielAlcolea","display_name":"Daniel Alcolea","profile_url":"https://noente.academia.edu/DanielAlcolea?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_61124960 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="61124960"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 61124960, container: 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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=61124960]").text(description); $(".js-view-count-work_61124960").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_61124960").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="61124960"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">10</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="12071" href="https://www.academia.edu/Documents/in/Immunohistochemistry">Immunohistochemistry</a>, <script data-card-contents-for-ri="12071" type="text/json">{"id":12071,"name":"Immunohistochemistry","url":"https://www.academia.edu/Documents/in/Immunohistochemistry?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="37834" href="https://www.academia.edu/Documents/in/Western_blotting">Western blotting</a>, <script data-card-contents-for-ri="37834" type="text/json">{"id":37834,"name":"Western blotting","url":"https://www.academia.edu/Documents/in/Western_blotting?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="74780" href="https://www.academia.edu/Documents/in/Mutation">Mutation</a>, <script data-card-contents-for-ri="74780" type="text/json">{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="147195" href="https://www.academia.edu/Documents/in/Central_Nervous_System">Central Nervous System</a><script data-card-contents-for-ri="147195" type="text/json">{"id":147195,"name":"Central Nervous System","url":"https://www.academia.edu/Documents/in/Central_Nervous_System?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=61124960]'), work: {"id":61124960,"title":"Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease","created_at":"2021-11-06T10:51:20.465-07:00","url":"https://www.academia.edu/61124960/Distinct_patterns_of_APP_processing_in_the_CNS_in_autosomal_dominant_and_sporadic_Alzheimer_disease?f_ri=74780","dom_id":"work_61124960","summary":null,"downloadable_attachments":[{"id":74274665,"asset_id":61124960,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":149928559,"first_name":"Daniel","last_name":"Alcolea","domain_name":"noente","page_name":"DanielAlcolea","display_name":"Daniel Alcolea","profile_url":"https://noente.academia.edu/DanielAlcolea?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":12071,"name":"Immunohistochemistry","url":"https://www.academia.edu/Documents/in/Immunohistochemistry?f_ri=74780","nofollow":false},{"id":37834,"name":"Western blotting","url":"https://www.academia.edu/Documents/in/Western_blotting?f_ri=74780","nofollow":false},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false},{"id":147195,"name":"Central Nervous System","url":"https://www.academia.edu/Documents/in/Central_Nervous_System?f_ri=74780","nofollow":false},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences?f_ri=74780"},{"id":289271,"name":"Aged","url":"https://www.academia.edu/Documents/in/Aged?f_ri=74780"},{"id":452440,"name":"Presenilin-2","url":"https://www.academia.edu/Documents/in/Presenilin-2?f_ri=74780"},{"id":1120234,"name":"Alzheimer Disease","url":"https://www.academia.edu/Documents/in/Alzheimer_Disease?f_ri=74780"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences?f_ri=74780"},{"id":2028686,"name":"Amyloid Beta Precursor Protein","url":"https://www.academia.edu/Documents/in/Amyloid_Beta_Precursor_Protein?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_5491847" data-work_id="5491847" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/5491847/Clinical_and_molecular_features_of_mitochondrial_DNA_depletion_syndromes">Clinical and molecular features of mitochondrial DNA depletion syndromes</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Mitochondrial DNA depletion syndromes (MDSs) form a group of autosomal recessive disorders characterized by profoundly decreased mitochondrial DNA copy numbers in affected tissues. Three main clinical presentations are known: myopathic,... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_5491847" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Mitochondrial DNA depletion syndromes (MDSs) form a group of autosomal recessive disorders characterized by profoundly decreased mitochondrial DNA copy numbers in affected tissues. Three main clinical presentations are known: myopathic, encephalomyopathic and hepatocerebral. The first is associated with mutations in thymidine kinase 2 (TK2) and p53-induced ribonucleotide reductase B subunit (RRM2B); the second with mutations in succinate synthase A (SUCLA2) and B (SUCLG1); the third with mutations in Twinkle (PEO1), pol-γA (POLG1), deoxyguanosine kinase (DGUOK) and MPV17 (MPV17). In this work, we review the MDS-associated phenotypes and present our own experience of 32 MDS patients, with the aim of defining the mutation frequency of the known genes, the clinical spectrum of the diseases, and the genotype–phenotype correlations. Five of our patients carried previously unreported mutations in one of the eight MDS genes.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/5491847" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="b8c8bb5a0325307b296ff550651b7cc8" rel="nofollow" data-download="{"attachment_id":49272469,"asset_id":5491847,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/49272469/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="7734703" href="https://mrc.academia.edu/antonellaSpinazzola">antonella Spinazzola</a><script data-card-contents-for-user="7734703" type="text/json">{"id":7734703,"first_name":"antonella","last_name":"Spinazzola","domain_name":"mrc","page_name":"antonellaSpinazzola","display_name":"antonella Spinazzola","profile_url":"https://mrc.academia.edu/antonellaSpinazzola?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_5491847 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="5491847"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 5491847, container: ".js-paper-rank-work_5491847", }); 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Three main clinical presentations are known: myopathic, encephalomyopathic and hepatocerebral. The first is associated with mutations in thymidine kinase 2 (TK2) and p53-induced ribonucleotide reductase B subunit (RRM2B); the second with mutations in succinate synthase A (SUCLA2) and B (SUCLG1); the third with mutations in Twinkle (PEO1), pol-γA (POLG1), deoxyguanosine kinase (DGUOK) and MPV17 (MPV17). In this work, we review the MDS-associated phenotypes and present our own experience of 32 MDS patients, with the aim of defining the mutation frequency of the known genes, the clinical spectrum of the diseases, and the genotype–phenotype correlations. Five of our patients carried previously unreported mutations in one of the eight MDS genes.","downloadable_attachments":[{"id":49272469,"asset_id":5491847,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":7734703,"first_name":"antonella","last_name":"Spinazzola","domain_name":"mrc","page_name":"antonellaSpinazzola","display_name":"antonella Spinazzola","profile_url":"https://mrc.academia.edu/antonellaSpinazzola?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":4228,"name":"Skeletal muscle biology","url":"https://www.academia.edu/Documents/in/Skeletal_muscle_biology?f_ri=74780","nofollow":false},{"id":6200,"name":"Magnetic Resonance 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href="https://independent.academia.edu/PeterJurutka">Peter Jurutka</a></span></div></div></span><script>(function(){ var popoverSettings = { el: $('.js-work-more-authors-15432569'), placement: 'bottom', hide_delay: 200, html: true, content: function(){ return $('.js-additional-users-15432569').html(); } } new HoverPopover(popoverSettings); })();</script></li><li class="js-paper-rank-work_15432569 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="15432569"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 15432569, container: ".js-paper-rank-work_15432569", }); });</script></li><li class="js-percentile-work_15432569 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x 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}); });</script></span><script>$(function() { $(".js-view-count-work_15432569").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="15432569"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">28</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="48" href="https://www.academia.edu/Documents/in/Engineering">Engineering</a>, <script data-card-contents-for-ri="48" type="text/json">{"id":48,"name":"Engineering","url":"https://www.academia.edu/Documents/in/Engineering?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="9531" href="https://www.academia.edu/Documents/in/Vitamin_D">Vitamin D</a>, <script data-card-contents-for-ri="9531" type="text/json">{"id":9531,"name":"Vitamin D","url":"https://www.academia.edu/Documents/in/Vitamin_D?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="23323" href="https://www.academia.edu/Documents/in/Transcription_Factors">Transcription Factors</a>, <script data-card-contents-for-ri="23323" type="text/json">{"id":23323,"name":"Transcription Factors","url":"https://www.academia.edu/Documents/in/Transcription_Factors?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="27784" href="https://www.academia.edu/Documents/in/Gene_expression">Gene expression</a><script data-card-contents-for-ri="27784" type="text/json">{"id":27784,"name":"Gene expression","url":"https://www.academia.edu/Documents/in/Gene_expression?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=15432569]'), work: {"id":15432569,"title":"New understanding of the molecular mechanism of 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Thompson","profile_url":"https://independent.academia.edu/PaulThompson41?f_ri=74780","photo":"/images/s65_no_pic.png"},{"id":34661285,"first_name":"Peter","last_name":"Jurutka","domain_name":"independent","page_name":"PeterJurutka","display_name":"Peter Jurutka","profile_url":"https://independent.academia.edu/PeterJurutka?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":48,"name":"Engineering","url":"https://www.academia.edu/Documents/in/Engineering?f_ri=74780","nofollow":false},{"id":9531,"name":"Vitamin D","url":"https://www.academia.edu/Documents/in/Vitamin_D?f_ri=74780","nofollow":false},{"id":23323,"name":"Transcription Factors","url":"https://www.academia.edu/Documents/in/Transcription_Factors?f_ri=74780","nofollow":false},{"id":27784,"name":"Gene expression","url":"https://www.academia.edu/Documents/in/Gene_expression?f_ri=74780","nofollow":false},{"id":35637,"name":"Molecular 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receptor","url":"https://www.academia.edu/Documents/in/Vitamin_D_receptor?f_ri=74780"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":88041,"name":"Bone","url":"https://www.academia.edu/Documents/in/Bone?f_ri=74780"},{"id":161737,"name":"Osteocalcin","url":"https://www.academia.edu/Documents/in/Osteocalcin?f_ri=74780"},{"id":203376,"name":"Osteopontin","url":"https://www.academia.edu/Documents/in/Osteopontin?f_ri=74780"},{"id":203384,"name":"Calcitriol","url":"https://www.academia.edu/Documents/in/Calcitriol?f_ri=74780"},{"id":213901,"name":"Transcription Factor","url":"https://www.academia.edu/Documents/in/Transcription_Factor?f_ri=74780"},{"id":224883,"name":"Integrins","url":"https://www.academia.edu/Documents/in/Integrins?f_ri=74780"},{"id":329425,"name":"Zinc Finger","url":"https://www.academia.edu/Documents/in/Zinc_Finger?f_ri=74780"},{"id":375054,"name":"Rats","url":"https://www.academia.edu/Documents/in/Rats?f_ri=74780"},{"id":402759,"name":"Chickens","url":"https://www.academia.edu/Documents/in/Chickens?f_ri=74780"},{"id":457201,"name":"DNA binding","url":"https://www.academia.edu/Documents/in/DNA_binding?f_ri=74780"},{"id":591594,"name":"Tretinoin","url":"https://www.academia.edu/Documents/in/Tretinoin?f_ri=74780"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence?f_ri=74780"},{"id":967839,"name":"Structure activity Relationship","url":"https://www.academia.edu/Documents/in/Structure_activity_Relationship?f_ri=74780"},{"id":1011864,"name":"Structure Function","url":"https://www.academia.edu/Documents/in/Structure_Function?f_ri=74780"},{"id":1597877,"name":"Nucleotides","url":"https://www.academia.edu/Documents/in/Nucleotides?f_ri=74780"},{"id":1643369,"name":"retinoid X receptor","url":"https://www.academia.edu/Documents/in/retinoid_X_receptor?f_ri=74780"},{"id":1763968,"name":"Gene Expression Regulation","url":"https://www.academia.edu/Documents/in/Gene_Expression_Regulation?f_ri=74780"},{"id":1877399,"name":"Nuclear Localization","url":"https://www.academia.edu/Documents/in/Nuclear_Localization?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_24406660" data-work_id="24406660" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/24406660/Human_mitochondrial_complex_I_assembly_is_mediated_by_NDUFAF1">Human mitochondrial complex I assembly is mediated by NDUFAF1</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/24406660" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="bc081b50de5d79219bf3575998e795e4" rel="nofollow" data-download="{"attachment_id":44737893,"asset_id":24406660,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/44737893/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" 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href="https://www.academia.edu/Documents/in/Fluorescence_Microscopy">Fluorescence Microscopy</a>, <script data-card-contents-for-ri="7700" type="text/json">{"id":7700,"name":"Fluorescence Microscopy","url":"https://www.academia.edu/Documents/in/Fluorescence_Microscopy?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="11298" href="https://www.academia.edu/Documents/in/Membrane_Proteins">Membrane Proteins</a>, <script data-card-contents-for-ri="11298" type="text/json">{"id":11298,"name":"Membrane Proteins","url":"https://www.academia.edu/Documents/in/Membrane_Proteins?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="15719" href="https://www.academia.edu/Documents/in/Mitochondria">Mitochondria</a>, <script data-card-contents-for-ri="15719" type="text/json">{"id":15719,"name":"Mitochondria","url":"https://www.academia.edu/Documents/in/Mitochondria?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="46579" href="https://www.academia.edu/Documents/in/Neurospora_crassa">Neurospora crassa</a><script data-card-contents-for-ri="46579" type="text/json">{"id":46579,"name":"Neurospora crassa","url":"https://www.academia.edu/Documents/in/Neurospora_crassa?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=24406660]'), work: {"id":24406660,"title":"Human mitochondrial complex I assembly is mediated by 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Fractionation","url":"https://www.academia.edu/Documents/in/Cell_Fractionation?f_ri=74780"},{"id":231661,"name":"Enzyme","url":"https://www.academia.edu/Documents/in/Enzyme?f_ri=74780"},{"id":290205,"name":"Mitochondrial Diseases","url":"https://www.academia.edu/Documents/in/Mitochondrial_Diseases?f_ri=74780"},{"id":422325,"name":"HeLa cells","url":"https://www.academia.edu/Documents/in/HeLa_cells?f_ri=74780"},{"id":434453,"name":"Oxidative phosphorylation","url":"https://www.academia.edu/Documents/in/Oxidative_phosphorylation?f_ri=74780"},{"id":521903,"name":"Doxycycline","url":"https://www.academia.edu/Documents/in/Doxycycline?f_ri=74780"},{"id":620070,"name":"Transfection","url":"https://www.academia.edu/Documents/in/Transfection?f_ri=74780"},{"id":1457054,"name":"Protein Transport","url":"https://www.academia.edu/Documents/in/Protein_Transport?f_ri=74780"},{"id":1681026,"name":"Biochemistry and cell biology","url":"https://www.academia.edu/Documents/in/Biochemistry_and_cell_biology?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_18773227" data-work_id="18773227" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/18773227/A_method_for_mutagenesis_of_mouse_mtDNA_and_a_resource_of_mouse_mtDNA_mutations_for_modeling_human_pathological_conditions">A method for mutagenesis of mouse mtDNA and a resource of mouse mtDNA mutations for modeling human pathological conditions</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Mutations in human mitochondrial DNA (mtDNA) can cause mitochondrial disease and have been associated with neurodegenerative disorders, cancer, diabetes and aging. Yet our progress toward delineating the precise contributions of mtDNA... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_18773227" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Mutations in human mitochondrial DNA (mtDNA) can cause mitochondrial disease and have been associated with neurodegenerative disorders, cancer, diabetes and aging. Yet our progress toward delineating the precise contributions of mtDNA mutations to these conditions is impeded by the limited availability of faithful transmitochondrial animal models. Here, we report a method for the isolation of mutations in mouse mtDNA and its implementation for the generation of a collection of over 150 cell lines suitable for the production of transmitochondrial mice. This method is based on the limited mutagenesis of mtDNA by proofreading-deficient DNA-polymerase γ followed by segregation of the resulting highly heteroplasmic mtDNA population by means of intracellular cloning. Among generated cell lines, we identify nine which carry mutations affecting the same amino acid or nucleotide positions as in human disease, including a mutation in the ND4 gene responsible for 70% of Leber Hereditary Optic ...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/18773227" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="244f226a1916401da669eb4af18ab5b2" rel="nofollow" data-download="{"attachment_id":40247258,"asset_id":18773227,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/40247258/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="38846982" href="https://independent.academia.edu/GlennWilson7">Glenn Wilson</a><script data-card-contents-for-user="38846982" type="text/json">{"id":38846982,"first_name":"Glenn","last_name":"Wilson","domain_name":"independent","page_name":"GlennWilson7","display_name":"Glenn Wilson","profile_url":"https://independent.academia.edu/GlennWilson7?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_18773227 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="18773227"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 18773227, container: ".js-paper-rank-work_18773227", }); 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$(".js-view-count[data-work-id=18773227]").text(description); $(".js-view-count-work_18773227").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_18773227").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="18773227"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">11</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="47884" href="https://www.academia.edu/Documents/in/Biological_Sciences">Biological Sciences</a>, <script data-card-contents-for-ri="47884" type="text/json">{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="57808" href="https://www.academia.edu/Documents/in/Cell_line">Cell line</a>, <script data-card-contents-for-ri="57808" type="text/json">{"id":57808,"name":"Cell line","url":"https://www.academia.edu/Documents/in/Cell_line?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="58054" href="https://www.academia.edu/Documents/in/Environmental_Sciences">Environmental Sciences</a>, <script data-card-contents-for-ri="58054" type="text/json">{"id":58054,"name":"Environmental Sciences","url":"https://www.academia.edu/Documents/in/Environmental_Sciences?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="63093" href="https://www.academia.edu/Documents/in/Mitochondrial_DNA">Mitochondrial DNA</a><script data-card-contents-for-ri="63093" type="text/json">{"id":63093,"name":"Mitochondrial DNA","url":"https://www.academia.edu/Documents/in/Mitochondrial_DNA?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=18773227]'), work: {"id":18773227,"title":"A method for mutagenesis of mouse mtDNA and a resource of mouse mtDNA mutations for modeling human pathological conditions","created_at":"2015-11-21T14:26:23.265-08:00","url":"https://www.academia.edu/18773227/A_method_for_mutagenesis_of_mouse_mtDNA_and_a_resource_of_mouse_mtDNA_mutations_for_modeling_human_pathological_conditions?f_ri=74780","dom_id":"work_18773227","summary":"Mutations in human mitochondrial DNA (mtDNA) can cause mitochondrial disease and have been associated with neurodegenerative disorders, cancer, diabetes and aging. Yet our progress toward delineating the precise contributions of mtDNA mutations to these conditions is impeded by the limited availability of faithful transmitochondrial animal models. Here, we report a method for the isolation of mutations in mouse mtDNA and its implementation for the generation of a collection of over 150 cell lines suitable for the production of transmitochondrial mice. This method is based on the limited mutagenesis of mtDNA by proofreading-deficient DNA-polymerase γ followed by segregation of the resulting highly heteroplasmic mtDNA population by means of intracellular cloning. Among generated cell lines, we identify nine which carry mutations affecting the same amino acid or nucleotide positions as in human disease, including a mutation in the ND4 gene responsible for 70% of Leber Hereditary Optic ...","downloadable_attachments":[{"id":40247258,"asset_id":18773227,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":38846982,"first_name":"Glenn","last_name":"Wilson","domain_name":"independent","page_name":"GlennWilson7","display_name":"Glenn Wilson","profile_url":"https://independent.academia.edu/GlennWilson7?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=74780","nofollow":false},{"id":57808,"name":"Cell line","url":"https://www.academia.edu/Documents/in/Cell_line?f_ri=74780","nofollow":false},{"id":58054,"name":"Environmental Sciences","url":"https://www.academia.edu/Documents/in/Environmental_Sciences?f_ri=74780","nofollow":false},{"id":63093,"name":"Mitochondrial DNA","url":"https://www.academia.edu/Documents/in/Mitochondrial_DNA?f_ri=74780","nofollow":false},{"id":67401,"name":"Mutagenesis","url":"https://www.academia.edu/Documents/in/Mutagenesis?f_ri=74780"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":82978,"name":"Reactive Oxygen Species","url":"https://www.academia.edu/Documents/in/Reactive_Oxygen_Species?f_ri=74780"},{"id":84760,"name":"Mice","url":"https://www.academia.edu/Documents/in/Mice?f_ri=74780"},{"id":178906,"name":"Nucleic Acids","url":"https://www.academia.edu/Documents/in/Nucleic_Acids?f_ri=74780"},{"id":290205,"name":"Mitochondrial Diseases","url":"https://www.academia.edu/Documents/in/Mitochondrial_Diseases?f_ri=74780"},{"id":702897,"name":"Cell Engineering","url":"https://www.academia.edu/Documents/in/Cell_Engineering?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_22274945" data-work_id="22274945" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/22274945/Molecular_pathology_in_forensic_medicine_Introduction">Molecular pathology in forensic medicine—Introduction</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/22274945" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa 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itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="43579141" href="https://independent.academia.edu/AntonioOliva4">Antonio Oliva</a><script data-card-contents-for-user="43579141" type="text/json">{"id":43579141,"first_name":"Antonio","last_name":"Oliva","domain_name":"independent","page_name":"AntonioOliva4","display_name":"Antonio Oliva","profile_url":"https://independent.academia.edu/AntonioOliva4?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_22274945 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="22274945"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 22274945, container: ".js-paper-rank-work_22274945", }); });</script></li><li class="js-percentile-work_22274945 InlineList-item InlineList-item--bordered hidden 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'View'); $(".js-view-count[data-work-id=22274945]").text(description); $(".js-view-count-work_22274945").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_22274945").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="22274945"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">31</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="156" href="https://www.academia.edu/Documents/in/Genetics">Genetics</a>, <script data-card-contents-for-ri="156" type="text/json">{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="428" href="https://www.academia.edu/Documents/in/Algorithms">Algorithms</a>, <script data-card-contents-for-ri="428" type="text/json">{"id":428,"name":"Algorithms","url":"https://www.academia.edu/Documents/in/Algorithms?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="1588" href="https://www.academia.edu/Documents/in/Forensic_Science">Forensic Science</a>, <script data-card-contents-for-ri="1588" type="text/json">{"id":1588,"name":"Forensic Science","url":"https://www.academia.edu/Documents/in/Forensic_Science?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="2122" href="https://www.academia.edu/Documents/in/Death">Death</a><script data-card-contents-for-ri="2122" type="text/json">{"id":2122,"name":"Death","url":"https://www.academia.edu/Documents/in/Death?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=22274945]'), work: {"id":22274945,"title":"Molecular pathology in forensic medicine—Introduction","created_at":"2016-02-21T23:25:36.313-08:00","url":"https://www.academia.edu/22274945/Molecular_pathology_in_forensic_medicine_Introduction?f_ri=74780","dom_id":"work_22274945","summary":null,"downloadable_attachments":[{"id":42924465,"asset_id":22274945,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":43579141,"first_name":"Antonio","last_name":"Oliva","domain_name":"independent","page_name":"AntonioOliva4","display_name":"Antonio Oliva","profile_url":"https://independent.academia.edu/AntonioOliva4?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=74780","nofollow":false},{"id":428,"name":"Algorithms","url":"https://www.academia.edu/Documents/in/Algorithms?f_ri=74780","nofollow":false},{"id":1588,"name":"Forensic Science","url":"https://www.academia.edu/Documents/in/Forensic_Science?f_ri=74780","nofollow":false},{"id":2122,"name":"Death","url":"https://www.academia.edu/Documents/in/Death?f_ri=74780","nofollow":false},{"id":2513,"name":"Molecular Biology","url":"https://www.academia.edu/Documents/in/Molecular_Biology?f_ri=74780"},{"id":3701,"name":"RNA","url":"https://www.academia.edu/Documents/in/RNA?f_ri=74780"},{"id":5070,"name":"Forensic Genetics","url":"https://www.academia.edu/Documents/in/Forensic_Genetics?f_ri=74780"},{"id":5490,"name":"MicroRNA","url":"https://www.academia.edu/Documents/in/MicroRNA?f_ri=74780"},{"id":13397,"name":"Forensic Medicine","url":"https://www.academia.edu/Documents/in/Forensic_Medicine?f_ri=74780"},{"id":13734,"name":"Communicable Diseases","url":"https://www.academia.edu/Documents/in/Communicable_Diseases?f_ri=74780"},{"id":21717,"name":"Forensic Pathology","url":"https://www.academia.edu/Documents/in/Forensic_Pathology?f_ri=74780"},{"id":24089,"name":"Causality","url":"https://www.academia.edu/Documents/in/Causality?f_ri=74780"},{"id":27784,"name":"Gene expression","url":"https://www.academia.edu/Documents/in/Gene_expression?f_ri=74780"},{"id":28235,"name":"Multidisciplinary","url":"https://www.academia.edu/Documents/in/Multidisciplinary?f_ri=74780"},{"id":37826,"name":"Biopsy","url":"https://www.academia.edu/Documents/in/Biopsy?f_ri=74780"},{"id":40993,"name":"Molecular Pathology","url":"https://www.academia.edu/Documents/in/Molecular_Pathology?f_ri=74780"},{"id":61474,"name":"Brain","url":"https://www.academia.edu/Documents/in/Brain?f_ri=74780"},{"id":63353,"name":"Identification","url":"https://www.academia.edu/Documents/in/Identification?f_ri=74780"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":97298,"name":"Pharmacogenetics","url":"https://www.academia.edu/Documents/in/Pharmacogenetics?f_ri=74780"},{"id":105628,"name":"Poisoning","url":"https://www.academia.edu/Documents/in/Poisoning?f_ri=74780"},{"id":118339,"name":"Polymerase Chain Reaction","url":"https://www.academia.edu/Documents/in/Polymerase_Chain_Reaction?f_ri=74780"},{"id":134041,"name":"DNA fingerprinting","url":"https://www.academia.edu/Documents/in/DNA_fingerprinting?f_ri=74780"},{"id":248653,"name":"Legal Medicine","url":"https://www.academia.edu/Documents/in/Legal_Medicine?f_ri=74780"},{"id":295854,"name":"microRNAs","url":"https://www.academia.edu/Documents/in/microRNAs?f_ri=74780"},{"id":493010,"name":"Sudden Cardiac Death","url":"https://www.academia.edu/Documents/in/Sudden_Cardiac_Death?f_ri=74780"},{"id":963748,"name":"Adenoma","url":"https://www.academia.edu/Documents/in/Adenoma?f_ri=74780"},{"id":1031658,"name":"Wounds and Injuries","url":"https://www.academia.edu/Documents/in/Wounds_and_Injuries?f_ri=74780"},{"id":1146508,"name":"Body Fluids","url":"https://www.academia.edu/Documents/in/Body_Fluids?f_ri=74780"},{"id":1261847,"name":"Corpse Dismemberment","url":"https://www.academia.edu/Documents/in/Corpse_Dismemberment?f_ri=74780"},{"id":1745478,"name":"Adenocarcinoma","url":"https://www.academia.edu/Documents/in/Adenocarcinoma?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_66906305" data-work_id="66906305" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/66906305/Uric_acid_and_cardiovascular_risk">Uric acid and cardiovascular risk</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">n engl j med 360;5 nejm.org january 29, 2009 538 Zaman K, Roy E, Arifeen SE, et al. Effectiveness of maternal 1. influenza immunization in mothers and infants. N Engl J Med 2008;359:1555-64. Ali HM, Scott R, Toms GL. The effect of foster... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_66906305" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">n engl j med 360;5 nejm.org january 29, 2009 538 Zaman K, Roy E, Arifeen SE, et al. Effectiveness of maternal 1. influenza immunization in mothers and infants. N Engl J Med 2008;359:1555-64. Ali HM, Scott R, Toms GL. The effect of foster feeding and 2. bottle feeding expressed breast-milk on the susceptibility of guinea-pig infants to influenza virus. Br J Exp Pathol 1989;70: 183-91. Chantry CJ, Howard CR, Auinger P. Full breastfeeding dura3. tion and associated decrease in respiratory tract infection in US children. Pediatrics 2006;117:425-32.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/66906305" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="109209391" href="https://independent.academia.edu/Crist%C3%B3balBueno">Cristóbal Bueno</a><script data-card-contents-for-user="109209391" type="text/json">{"id":109209391,"first_name":"Cristóbal","last_name":"Bueno","domain_name":"independent","page_name":"CristóbalBueno","display_name":"Cristóbal Bueno","profile_url":"https://independent.academia.edu/Crist%C3%B3balBueno?f_ri=74780","photo":"https://0.academia-photos.com/109209391/25600463/24309347/s65_crist_bal.bueno.jpg"}</script></span></span></li><li class="js-paper-rank-work_66906305 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="66906305"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 66906305, container: ".js-paper-rank-work_66906305", }); 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Effectiveness of maternal 1. influenza immunization in mothers and infants. N Engl J Med 2008;359:1555-64. Ali HM, Scott R, Toms GL. The effect of foster feeding and 2. bottle feeding expressed breast-milk on the susceptibility of guinea-pig infants to influenza virus. Br J Exp Pathol 1989;70: 183-91. Chantry CJ, Howard CR, Auinger P. Full breastfeeding dura3. tion and associated decrease in respiratory tract infection in US children. 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type="text/json">{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="25804" href="https://www.academia.edu/Documents/in/Neurobiology">Neurobiology</a>, <script data-card-contents-for-ri="25804" type="text/json">{"id":25804,"name":"Neurobiology","url":"https://www.academia.edu/Documents/in/Neurobiology?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="26327" href="https://www.academia.edu/Documents/in/Medicine">Medicine</a><script data-card-contents-for-ri="26327" type="text/json">{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=74804473]'), work: {"id":74804473,"title":"Mice with altered serotonin 2C receptor RNA editing display 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Disease","url":"https://www.academia.edu/Documents/in/Neurobiology_Of_Disease?f_ri=74780","nofollow":false},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology?f_ri=74780","nofollow":false},{"id":25804,"name":"Neurobiology","url":"https://www.academia.edu/Documents/in/Neurobiology?f_ri=74780","nofollow":false},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=74780","nofollow":false},{"id":30849,"name":"RNA Editing","url":"https://www.academia.edu/Documents/in/RNA_Editing?f_ri=74780"},{"id":72230,"name":"Food Consumption","url":"https://www.academia.edu/Documents/in/Food_Consumption?f_ri=74780"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":84760,"name":"Mice","url":"https://www.academia.edu/Documents/in/Mice?f_ri=74780"},{"id":95704,"name":"Hypothalamus","url":"https://www.academia.edu/Documents/in/Hypothalamus?f_ri=74780"},{"id":202574,"name":"Feeding Behavior","url":"https://www.academia.edu/Documents/in/Feeding_Behavior?f_ri=74780"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences?f_ri=74780"},{"id":323415,"name":"Mouse Model","url":"https://www.academia.edu/Documents/in/Mouse_Model?f_ri=74780"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences?f_ri=74780"},{"id":1763968,"name":"Gene Expression Regulation","url":"https://www.academia.edu/Documents/in/Gene_Expression_Regulation?f_ri=74780"},{"id":2444775,"name":"Psychomotor Performance","url":"https://www.academia.edu/Documents/in/Psychomotor_Performance?f_ri=74780"},{"id":2482159,"name":"DNA mutational analysis","url":"https://www.academia.edu/Documents/in/DNA_mutational_analysis?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_18554778" data-work_id="18554778" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/18554778/Growth_hormone_deficiency_and_related_disorders_insights_into_causation_diagnosis_and_treatment">Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/18554778" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="626a2a0f8ccab7e52ea416ff8e701447" rel="nofollow" data-download="{"attachment_id":40126460,"asset_id":18554778,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/40126460/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="38427565" href="https://independent.academia.edu/PreeceMichael">Michael A Preece</a><script data-card-contents-for-user="38427565" type="text/json">{"id":38427565,"first_name":"Michael","last_name":"Preece","domain_name":"independent","page_name":"PreeceMichael","display_name":"Michael A Preece","profile_url":"https://independent.academia.edu/PreeceMichael?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_18554778 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="18554778"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 18554778, container: ".js-paper-rank-work_18554778", }); });</script></li><li class="js-percentile-work_18554778 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 18554778; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_18554778"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_18554778 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="18554778"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 18554778; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=18554778]").text(description); $(".js-view-count-work_18554778").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_18554778").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="18554778"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">8</a>  </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="52562" href="https://www.academia.edu/Documents/in/Growth_Hormone">Growth Hormone</a>, <script data-card-contents-for-ri="52562" type="text/json">{"id":52562,"name":"Growth Hormone","url":"https://www.academia.edu/Documents/in/Growth_Hormone?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="54961" href="https://www.academia.edu/Documents/in/Growth">Growth</a>, <script data-card-contents-for-ri="54961" type="text/json">{"id":54961,"name":"Growth","url":"https://www.academia.edu/Documents/in/Growth?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="74780" href="https://www.academia.edu/Documents/in/Mutation">Mutation</a>, <script data-card-contents-for-ri="74780" type="text/json">{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="191947" href="https://www.academia.edu/Documents/in/Growth_hormone_deficiency">Growth hormone deficiency</a><script data-card-contents-for-ri="191947" type="text/json">{"id":191947,"name":"Growth hormone deficiency","url":"https://www.academia.edu/Documents/in/Growth_hormone_deficiency?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=18554778]'), work: {"id":18554778,"title":"Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment","created_at":"2015-11-17T22:44:52.883-08:00","url":"https://www.academia.edu/18554778/Growth_hormone_deficiency_and_related_disorders_insights_into_causation_diagnosis_and_treatment?f_ri=74780","dom_id":"work_18554778","summary":null,"downloadable_attachments":[{"id":40126460,"asset_id":18554778,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":38427565,"first_name":"Michael","last_name":"Preece","domain_name":"independent","page_name":"PreeceMichael","display_name":"Michael A Preece","profile_url":"https://independent.academia.edu/PreeceMichael?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":52562,"name":"Growth 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class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_80353319" data-work_id="80353319" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/80353319/Genome_maps_across_26_human_populations_reveal_population_specific_patterns_of_structural_variation">Genome maps across 26 human populations reveal population-specific patterns of structural variation</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/80353319" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="0352030289cbbd44cd5d3c0fe5f145ff" rel="nofollow" data-download="{"attachment_id":86763575,"asset_id":80353319,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/86763575/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="223057436" href="https://independent.academia.edu/WalfredMa">Walfred Ma</a><script data-card-contents-for-user="223057436" type="text/json">{"id":223057436,"first_name":"Walfred","last_name":"Ma","domain_name":"independent","page_name":"WalfredMa","display_name":"Walfred Ma","profile_url":"https://independent.academia.edu/WalfredMa?f_ri=74780","photo":"https://0.academia-photos.com/223057436/80568292/69149693/s65_walfred.ma.png"}</script></span></span></li><li class="js-paper-rank-work_80353319 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="80353319"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 80353319, container: ".js-paper-rank-work_80353319", }); });</script></li><li class="js-percentile-work_80353319 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 80353319; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_80353319"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_80353319 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="80353319"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 80353319; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=80353319]").text(description); $(".js-view-count-work_80353319").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_80353319").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="80353319"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">17</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="155" href="https://www.academia.edu/Documents/in/Evolutionary_Biology">Evolutionary Biology</a>, <script data-card-contents-for-ri="155" type="text/json">{"id":155,"name":"Evolutionary Biology","url":"https://www.academia.edu/Documents/in/Evolutionary_Biology?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="428" href="https://www.academia.edu/Documents/in/Algorithms">Algorithms</a>, <script data-card-contents-for-ri="428" type="text/json">{"id":428,"name":"Algorithms","url":"https://www.academia.edu/Documents/in/Algorithms?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="3216" href="https://www.academia.edu/Documents/in/Genomics">Genomics</a>, <script data-card-contents-for-ri="3216" type="text/json">{"id":3216,"name":"Genomics","url":"https://www.academia.edu/Documents/in/Genomics?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="4233" href="https://www.academia.edu/Documents/in/Computational_Biology">Computational Biology</a><script data-card-contents-for-ri="4233" type="text/json">{"id":4233,"name":"Computational Biology","url":"https://www.academia.edu/Documents/in/Computational_Biology?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=80353319]'), work: {"id":80353319,"title":"Genome maps across 26 human populations reveal population-specific patterns of structural variation","created_at":"2022-05-31T03:41:38.042-07:00","url":"https://www.academia.edu/80353319/Genome_maps_across_26_human_populations_reveal_population_specific_patterns_of_structural_variation?f_ri=74780","dom_id":"work_80353319","summary":null,"downloadable_attachments":[{"id":86763575,"asset_id":80353319,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":223057436,"first_name":"Walfred","last_name":"Ma","domain_name":"independent","page_name":"WalfredMa","display_name":"Walfred Ma","profile_url":"https://independent.academia.edu/WalfredMa?f_ri=74780","photo":"https://0.academia-photos.com/223057436/80568292/69149693/s65_walfred.ma.png"}],"research_interests":[{"id":155,"name":"Evolutionary Biology","url":"https://www.academia.edu/Documents/in/Evolutionary_Biology?f_ri=74780","nofollow":false},{"id":428,"name":"Algorithms","url":"https://www.academia.edu/Documents/in/Algorithms?f_ri=74780","nofollow":false},{"id":3216,"name":"Genomics","url":"https://www.academia.edu/Documents/in/Genomics?f_ri=74780","nofollow":false},{"id":4233,"name":"Computational Biology","url":"https://www.academia.edu/Documents/in/Computational_Biology?f_ri=74780","nofollow":false},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology?f_ri=74780"},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=74780"},{"id":28235,"name":"Multidisciplinary","url":"https://www.academia.edu/Documents/in/Multidisciplinary?f_ri=74780"},{"id":41720,"name":"Human","url":"https://www.academia.edu/Documents/in/Human?f_ri=74780"},{"id":48057,"name":"DNA","url":"https://www.academia.edu/Documents/in/DNA?f_ri=74780"},{"id":54433,"name":"Phylogeny","url":"https://www.academia.edu/Documents/in/Phylogeny?f_ri=74780"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":176486,"name":"Genome","url":"https://www.academia.edu/Documents/in/Genome?f_ri=74780"},{"id":194433,"name":"Gene Dosage","url":"https://www.academia.edu/Documents/in/Gene_Dosage?f_ri=74780"},{"id":478275,"name":"Genomic","url":"https://www.academia.edu/Documents/in/Genomic?f_ri=74780"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence?f_ri=74780"},{"id":1147230,"name":"Chromosomes","url":"https://www.academia.edu/Documents/in/Chromosomes?f_ri=74780"},{"id":1267800,"name":"Nature Communications","url":"https://www.academia.edu/Documents/in/Nature_Communications?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_80110816" data-work_id="80110816" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/80110816/AGTR2_Mutations_in_X_Linked_Mental_Retardation">AGTR2 Mutations in X-Linked Mental Retardation</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Two angiotensin II (Ang II)–specific receptors, AGTR1 and AGTR2, are expressed in the mammalian brain. Ang II actions on blood pressure regulation, water electrolyte balance, and hormone secretion are primarily mediated by AGTR1. The... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_80110816" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Two angiotensin II (Ang II)–specific receptors, AGTR1 and AGTR2, are expressed in the mammalian brain. Ang II actions on blood pressure regulation, water electrolyte balance, and hormone secretion are primarily mediated by AGTR1. The function of AGTR2 remains unclear. Here, we show that expression of the AGTR2 gene was absent in a female patient with mental retardation (MR) who had a balanced X;7 chromosomal translocation. Additionally, 8 of 590 unrelated male patients with MR were found to have sequence changes in the AGTR2 gene, including one frameshift and three missense mutations. These findings indicate a role for AGTR2 in brain development and cognitive function.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/80110816" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="0020e6910b54ebbc36673f8ba051acd7" rel="nofollow" data-download="{"attachment_id":86601990,"asset_id":80110816,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/86601990/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="189453240" href="https://independent.academia.edu/PennyEdwards6">Penny Edwards</a><script data-card-contents-for-user="189453240" type="text/json">{"id":189453240,"first_name":"Penny","last_name":"Edwards","domain_name":"independent","page_name":"PennyEdwards6","display_name":"Penny Edwards","profile_url":"https://independent.academia.edu/PennyEdwards6?f_ri=74780","photo":"https://0.academia-photos.com/189453240/52709546/40824537/s65_penny.edwards.jpeg"}</script></span></span></li><li class="js-paper-rank-work_80110816 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="80110816"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 80110816, container: ".js-paper-rank-work_80110816", }); 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Ang II actions on blood pressure regulation, water electrolyte balance, and hormone secretion are primarily mediated by AGTR1. The function of AGTR2 remains unclear. Here, we show that expression of the AGTR2 gene was absent in a female patient with mental retardation (MR) who had a balanced X;7 chromosomal translocation. Additionally, 8 of 590 unrelated male patients with MR were found to have sequence changes in the AGTR2 gene, including one frameshift and three missense mutations. These findings indicate a role for AGTR2 in brain development and cognitive function.","downloadable_attachments":[{"id":86601990,"asset_id":80110816,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":189453240,"first_name":"Penny","last_name":"Edwards","domain_name":"independent","page_name":"PennyEdwards6","display_name":"Penny Edwards","profile_url":"https://independent.academia.edu/PennyEdwards6?f_ri=74780","photo":"https://0.academia-photos.com/189453240/52709546/40824537/s65_penny.edwards.jpeg"}],"research_interests":[{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology?f_ri=74780","nofollow":false},{"id":23868,"name":"Intellectual Disability","url":"https://www.academia.edu/Documents/in/Intellectual_Disability?f_ri=74780","nofollow":false},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=74780","nofollow":false},{"id":28235,"name":"Multidisciplinary","url":"https://www.academia.edu/Documents/in/Multidisciplinary?f_ri=74780","nofollow":false},{"id":29538,"name":"Brain development","url":"https://www.academia.edu/Documents/in/Brain_development?f_ri=74780"},{"id":32923,"name":"Gene Silencing","url":"https://www.academia.edu/Documents/in/Gene_Silencing?f_ri=74780"},{"id":65615,"name":"Cerebellum","url":"https://www.academia.edu/Documents/in/Cerebellum?f_ri=74780"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":88321,"name":"Blood Pressure","url":"https://www.academia.edu/Documents/in/Blood_Pressure?f_ri=74780"},{"id":237185,"name":"Physical chromosome mapping","url":"https://www.academia.edu/Documents/in/Physical_chromosome_mapping?f_ri=74780"},{"id":441653,"name":"Cognitive Function","url":"https://www.academia.edu/Documents/in/Cognitive_Function?f_ri=74780"},{"id":809881,"name":"Amino Acid Sequence","url":"https://www.academia.edu/Documents/in/Amino_Acid_Sequence?f_ri=74780"},{"id":954841,"name":"Angiotensin II","url":"https://www.academia.edu/Documents/in/Angiotensin_II?f_ri=74780"},{"id":994106,"name":"Ascomycota","url":"https://www.academia.edu/Documents/in/Ascomycota?f_ri=74780"},{"id":1905343,"name":"Plant Leaves","url":"https://www.academia.edu/Documents/in/Plant_Leaves?f_ri=74780"},{"id":2467566,"name":"Molecular Sequence Data","url":"https://www.academia.edu/Documents/in/Molecular_Sequence_Data?f_ri=74780"},{"id":3458391,"name":"frameshift mutation","url":"https://www.academia.edu/Documents/in/frameshift_mutation?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_78265793" data-work_id="78265793" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/78265793/Epidemiology_of_Alzheimer_disease">Epidemiology of Alzheimer disease</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">The global prevalence of dementia has been estimated to be as high as 24 million, and is predicted to double every 20 years until at least 2040. As the population worldwide continues to age, the number of individuals at risk will also... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_78265793" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">The global prevalence of dementia has been estimated to be as high as 24 million, and is predicted to double every 20 years until at least 2040. As the population worldwide continues to age, the number of individuals at risk will also increase, particularly among the very old. Alzheimer disease is the leading cause of dementia beginning with impaired memory. The neuropathological hallmarks of Alzheimer disease include diffuse and neuritic extracellular amyloid plaques in brain that are frequently surrounded by dystrophic neurites and intraneuronal neurofibrillary tangles. The etiology of Alzheimer disease remains unclear, but it is likely to be the result of both genetic and environmental factors. In this review we discuss the prevalence and incidence rates, the established environmental risk factors, and the protective factors, and briefly review genetic variants predisposing to disease.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/78265793" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="0e77638971413af92f660db4af0c5542" rel="nofollow" data-download="{"attachment_id":85372857,"asset_id":78265793,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/85372857/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="33341750" href="https://independent.academia.edu/RichardMayeux">Richard Mayeux</a><script data-card-contents-for-user="33341750" type="text/json">{"id":33341750,"first_name":"Richard","last_name":"Mayeux","domain_name":"independent","page_name":"RichardMayeux","display_name":"Richard Mayeux","profile_url":"https://independent.academia.edu/RichardMayeux?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_78265793 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="78265793"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 78265793, container: ".js-paper-rank-work_78265793", }); 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In this review we discuss the prevalence and incidence rates, the established environmental risk factors, and the protective factors, and briefly review genetic variants predisposing to disease.","downloadable_attachments":[{"id":85372857,"asset_id":78265793,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":33341750,"first_name":"Richard","last_name":"Mayeux","domain_name":"independent","page_name":"RichardMayeux","display_name":"Richard 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u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Mutations in the GJB2 gene are a major cause of non‐syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_71769467" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Mutations in the GJB2 gene are a major cause of non‐syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, −3438C→T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/71769467" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="30457326d2a90eba205774ceee18ee99" rel="nofollow" data-download="{"attachment_id":80976068,"asset_id":71769467,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/80976068/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="59812031" href="https://independent.academia.edu/GFialho">Graça Fialho</a><script data-card-contents-for-user="59812031" type="text/json">{"id":59812031,"first_name":"Graça","last_name":"Fialho","domain_name":"independent","page_name":"GFialho","display_name":"Graça Fialho","profile_url":"https://independent.academia.edu/GFialho?f_ri=74780","photo":"https://0.academia-photos.com/59812031/156292589/145921460/s65_gra_a.fialho.jpeg"}</script></span></span></li><li class="js-paper-rank-work_71769467 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="71769467"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 71769467, container: ".js-paper-rank-work_71769467", }); 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In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, −3438C→T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2.","downloadable_attachments":[{"id":80976068,"asset_id":71769467,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":59812031,"first_name":"Graça","last_name":"Fialho","domain_name":"independent","page_name":"GFialho","display_name":"Graça Fialho","profile_url":"https://independent.academia.edu/GFialho?f_ri=74780","photo":"https://0.academia-photos.com/59812031/156292589/145921460/s65_gra_a.fialho.jpeg"}],"research_interests":[{"id":2568,"name":"Medical Genetics","url":"https://www.academia.edu/Documents/in/Medical_Genetics?f_ri=74780","nofollow":false},{"id":5462,"name":"Gap Junctions","url":"https://www.academia.edu/Documents/in/Gap_Junctions?f_ri=74780","nofollow":false},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology?f_ri=74780","nofollow":false},{"id":18529,"name":"Fluorescent Dyes and Reagents","url":"https://www.academia.edu/Documents/in/Fluorescent_Dyes_and_Reagents?f_ri=74780","nofollow":false},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=74780"},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=74780"},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child?f_ri=74780"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":180673,"name":"Hearing Loss","url":"https://www.academia.edu/Documents/in/Hearing_Loss?f_ri=74780"},{"id":372410,"name":"Genotype","url":"https://www.academia.edu/Documents/in/Genotype?f_ri=74780"},{"id":1000981,"name":"GJB","url":"https://www.academia.edu/Documents/in/GJB?f_ri=74780"},{"id":1151963,"name":"Cochlea","url":"https://www.academia.edu/Documents/in/Cochlea?f_ri=74780"},{"id":1470734,"name":"Hereditary Hearing Loss","url":"https://www.academia.edu/Documents/in/Hereditary_Hearing_Loss?f_ri=74780"},{"id":2036633,"name":"Medical","url":"https://www.academia.edu/Documents/in/Medical?f_ri=74780"},{"id":2528084,"name":"Connexins","url":"https://www.academia.edu/Documents/in/Connexins?f_ri=74780"},{"id":3276666,"name":"fluorescent dyes","url":"https://www.academia.edu/Documents/in/fluorescent_dyes?f_ri=74780"},{"id":3763225,"name":"Medical and Health Sciences","url":"https://www.academia.edu/Documents/in/Medical_and_Health_Sciences?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_69588922" data-work_id="69588922" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/69588922/GenoBase_comprehensive_resource_database_of_Escherichia_coli_K_12">GenoBase: comprehensive resource database of Escherichia coli K-12</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Comprehensive experimental resources, such as ORFeome clone libraries and deletion mutant collections, are fundamental tools for elucidation of gene function. Data sets by omics analysis using these resources provide key information for... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_69588922" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Comprehensive experimental resources, such as ORFeome clone libraries and deletion mutant collections, are fundamental tools for elucidation of gene function. Data sets by omics analysis using these resources provide key information for functional analysis, modeling and simulation both in individual and systematic approaches. With the long-term goal of complete understanding of a cell, we have over the past decade created a variety of clone and mutant sets for functional genomics studies of Escherichia coli K-12. We have made these experimental resources freely available to the academic community worldwide. Accordingly, these resources have now been used in numerous investigations of a multitude of cell processes. Quality control is extremely important for evaluating results generated by these resources. Because the annotation has been changed since 2005, which we originally used for the construction, we have updated these genomic resources accordingly. Here, we describe GenoBase (h...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/69588922" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="fdcbe47a262465af51fcf156cbe7b098" rel="nofollow" data-download="{"attachment_id":79626408,"asset_id":69588922,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/79626408/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="113959209" href="https://ritsumei.academia.edu/YukakoTohsato">Yukako Tohsato</a><script data-card-contents-for-user="113959209" type="text/json">{"id":113959209,"first_name":"Yukako","last_name":"Tohsato","domain_name":"ritsumei","page_name":"YukakoTohsato","display_name":"Yukako Tohsato","profile_url":"https://ritsumei.academia.edu/YukakoTohsato?f_ri=74780","photo":"https://0.academia-photos.com/113959209/49487060/37463894/s65_yukako.tohsato.png"}</script></span></span></li><li class="js-paper-rank-work_69588922 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="69588922"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 69588922, container: ".js-paper-rank-work_69588922", }); 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$(".js-view-count[data-work-id=69588922]").text(description); $(".js-view-count-work_69588922").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_69588922").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="69588922"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">8</a>  </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="422" href="https://www.academia.edu/Documents/in/Computer_Science">Computer Science</a>, <script data-card-contents-for-ri="422" type="text/json">{"id":422,"name":"Computer Science","url":"https://www.academia.edu/Documents/in/Computer_Science?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="7710" href="https://www.academia.edu/Documents/in/Biology">Biology</a>, <script data-card-contents-for-ri="7710" type="text/json">{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="26327" href="https://www.academia.edu/Documents/in/Medicine">Medicine</a>, <script data-card-contents-for-ri="26327" type="text/json">{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="47884" href="https://www.academia.edu/Documents/in/Biological_Sciences">Biological Sciences</a><script data-card-contents-for-ri="47884" type="text/json">{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=69588922]'), work: {"id":69588922,"title":"GenoBase: comprehensive resource database of Escherichia coli K-12","created_at":"2022-01-27T00:57:31.787-08:00","url":"https://www.academia.edu/69588922/GenoBase_comprehensive_resource_database_of_Escherichia_coli_K_12?f_ri=74780","dom_id":"work_69588922","summary":"Comprehensive experimental resources, such as ORFeome clone libraries and deletion mutant collections, are fundamental tools for elucidation of gene function. Data sets by omics analysis using these resources provide key information for functional analysis, modeling and simulation both in individual and systematic approaches. With the long-term goal of complete understanding of a cell, we have over the past decade created a variety of clone and mutant sets for functional genomics studies of Escherichia coli K-12. We have made these experimental resources freely available to the academic community worldwide. Accordingly, these resources have now been used in numerous investigations of a multitude of cell processes. Quality control is extremely important for evaluating results generated by these resources. Because the annotation has been changed since 2005, which we originally used for the construction, we have updated these genomic resources accordingly. Here, we describe GenoBase (h...","downloadable_attachments":[{"id":79626408,"asset_id":69588922,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":113959209,"first_name":"Yukako","last_name":"Tohsato","domain_name":"ritsumei","page_name":"YukakoTohsato","display_name":"Yukako Tohsato","profile_url":"https://ritsumei.academia.edu/YukakoTohsato?f_ri=74780","photo":"https://0.academia-photos.com/113959209/49487060/37463894/s65_yukako.tohsato.png"}],"research_interests":[{"id":422,"name":"Computer Science","url":"https://www.academia.edu/Documents/in/Computer_Science?f_ri=74780","nofollow":false},{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology?f_ri=74780","nofollow":false},{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=74780","nofollow":false},{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=74780","nofollow":false},{"id":58054,"name":"Environmental Sciences","url":"https://www.academia.edu/Documents/in/Environmental_Sciences?f_ri=74780"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":178906,"name":"Nucleic Acids","url":"https://www.academia.edu/Documents/in/Nucleic_Acids?f_ri=74780"},{"id":1191356,"name":"Internet","url":"https://www.academia.edu/Documents/in/Internet?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_68151991" data-work_id="68151991" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/68151991/A_single_amino_acid_substitution_eliminates_the_stringent_carbohydrate_requirement_for_intracellular_transport_of_a_viral_glycoprotein">A single-amino-acid substitution eliminates the stringent carbohydrate requirement for intracellular transport of a viral glycoprotein</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">In this report, we have investigated the contribution of primary sequence to the carbohydrate requirement for intracellular transport of two closely related glycoproteins, the G proteins of the San Juan and Orsay strains of vesicular... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_68151991" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">In this report, we have investigated the contribution of primary sequence to the carbohydrate requirement for intracellular transport of two closely related glycoproteins, the G proteins of the San Juan and Orsay strains of vesicular stomatitis virus. We used site-directed mutagenesis of the coding sequence to eliminate the two consensus sites for glycosylation in the Orsay G protein. Whereas the nonglycosylated San Juan G protein required at least one of its two asparagine-linked oligosaccharides for transport to the plasma membrane at 37 degrees C, a fraction of the Orsay G protein was transported without carbohydrate. Of the 10 amino acid differences between these two proteins, residue 172 (tyrosine in San Juan, aspartic acid in Orsay) played the major role in determining the stringency for the carbohydrate requirement. The rates at which the glycosylated and nonglycosylated Orsay G proteins were transported to the cell surface were the same, although a smaller fraction of the no...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/68151991" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="5f3fa7be74f772bdd6bfde7300f611ce" rel="nofollow" data-download="{"attachment_id":78729854,"asset_id":68151991,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/78729854/download_file?st=MTczMjcwMjIwMCw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="36463958" href="https://independent.academia.edu/CMachamer">C. Machamer</a><script data-card-contents-for-user="36463958" type="text/json">{"id":36463958,"first_name":"C.","last_name":"Machamer","domain_name":"independent","page_name":"CMachamer","display_name":"C. Machamer","profile_url":"https://independent.academia.edu/CMachamer?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_68151991 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="68151991"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 68151991, container: ".js-paper-rank-work_68151991", }); });</script></li><li class="js-percentile-work_68151991 InlineList-item InlineList-item--bordered hidden u-tcGrayDark"><span class="percentile-widget hidden"><span class="u-mr2x percentile-widget" style="display: none">•</span><span class="u-mr2x work-percentile"></span></span><script>$(function () { var workId = 68151991; window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_68151991"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_68151991 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="68151991"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 68151991; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=68151991]").text(description); $(".js-view-count-work_68151991").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_68151991").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="68151991"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">11</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="7710" href="https://www.academia.edu/Documents/in/Biology">Biology</a>, <script data-card-contents-for-ri="7710" type="text/json">{"id":7710,"name":"Biology","url":"https://www.academia.edu/Documents/in/Biology?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="8089" href="https://www.academia.edu/Documents/in/Virology">Virology</a>, <script data-card-contents-for-ri="8089" type="text/json">{"id":8089,"name":"Virology","url":"https://www.academia.edu/Documents/in/Virology?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="26327" href="https://www.academia.edu/Documents/in/Medicine">Medicine</a>, <script data-card-contents-for-ri="26327" type="text/json">{"id":26327,"name":"Medicine","url":"https://www.academia.edu/Documents/in/Medicine?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="47884" href="https://www.academia.edu/Documents/in/Biological_Sciences">Biological Sciences</a><script data-card-contents-for-ri="47884" type="text/json">{"id":47884,"name":"Biological Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=68151991]'), work: {"id":68151991,"title":"A single-amino-acid substitution eliminates the stringent carbohydrate requirement for intracellular transport of a viral glycoprotein","created_at":"2022-01-14T11:02:50.416-08:00","url":"https://www.academia.edu/68151991/A_single_amino_acid_substitution_eliminates_the_stringent_carbohydrate_requirement_for_intracellular_transport_of_a_viral_glycoprotein?f_ri=74780","dom_id":"work_68151991","summary":"In this report, we have investigated the contribution of primary sequence to the carbohydrate requirement for intracellular transport of two closely related glycoproteins, the G proteins of the San Juan and Orsay strains of vesicular stomatitis virus. We used site-directed mutagenesis of the coding sequence to eliminate the two consensus sites for glycosylation in the Orsay G protein. Whereas the nonglycosylated San Juan G protein required at least one of its two asparagine-linked oligosaccharides for transport to the plasma membrane at 37 degrees C, a fraction of the Orsay G protein was transported without carbohydrate. Of the 10 amino acid differences between these two proteins, residue 172 (tyrosine in San Juan, aspartic acid in Orsay) played the major role in determining the stringency for the carbohydrate requirement. The rates at which the glycosylated and nonglycosylated Orsay G proteins were transported to the cell surface were the same, although a smaller fraction of the no...","downloadable_attachments":[{"id":78729854,"asset_id":68151991,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":36463958,"first_name":"C.","last_name":"Machamer","domain_name":"independent","page_name":"CMachamer","display_name":"C. 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Concentration","url":"https://www.academia.edu/Documents/in/Hydrogen-Ion_Concentration?f_ri=74780"},{"id":3789884,"name":"Pharmacology and pharmaceutical sciences","url":"https://www.academia.edu/Documents/in/Pharmacology_and_pharmaceutical_sciences?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_53903836" data-work_id="53903836" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/53903836/Transcriptomic_Characterization_of_SF3B1_Mutation_Reveals_Its_Pleiotropic_Effects_in_Chronic_Lymphocytic_Leukemia">Transcriptomic Characterization of SF3B1 Mutation Reveals Its Pleiotropic Effects in Chronic Lymphocytic Leukemia</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Mutations in SF3B1, which encodes a spliceosome component, are associated with poor outcome in chronic lymphocytic leukemia (CLL), but how these contribute to CLL progression remains poorly understood. We undertook a transcriptomic... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_53903836" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Mutations in SF3B1, which encodes a spliceosome component, are associated with poor outcome in chronic lymphocytic leukemia (CLL), but how these contribute to CLL progression remains poorly understood. We undertook a transcriptomic characterization of primary human CLL cells to identify transcripts and pathways affected by SF3B1 mutation. Splicing alterations, identified in the analysis of bulk cells, were confirmed in single SF3B1-mutated CLL cells and also found in cell lines ectopically expressing mutant SF3B1. SF3B1 mutation was found to dysregulate multiple cellular functions including DNA damage response, telomere maintenance, and Notch signaling (mediated through KLF8 upregulation, increased TERC and TERT expression, or altered splicing of DVL2 transcript, respectively). SF3B1 mutation leads to diverse changes in CLL-related pathways.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/53903836" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="8e84de3147f57f129426242fdc3859d9" rel="nofollow" data-download="{"attachment_id":70525382,"asset_id":53903836,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/70525382/download_file?st=MTczMjcwMjIwMSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="133690862" href="https://sydney.academia.edu/KevinChau">Kevin Chau</a><script data-card-contents-for-user="133690862" type="text/json">{"id":133690862,"first_name":"Kevin","last_name":"Chau","domain_name":"sydney","page_name":"KevinChau","display_name":"Kevin Chau","profile_url":"https://sydney.academia.edu/KevinChau?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_53903836 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="53903836"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 53903836, container: ".js-paper-rank-work_53903836", }); 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$(".js-view-count[data-work-id=53903836]").text(description); $(".js-view-count-work_53903836").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_53903836").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="53903836"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">7</a>  </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="38831" href="https://www.academia.edu/Documents/in/Signal_Transduction">Signal Transduction</a>, <script data-card-contents-for-ri="38831" type="text/json">{"id":38831,"name":"Signal Transduction","url":"https://www.academia.edu/Documents/in/Signal_Transduction?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="74780" href="https://www.academia.edu/Documents/in/Mutation">Mutation</a>, <script data-card-contents-for-ri="74780" type="text/json">{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="139002" href="https://www.academia.edu/Documents/in/Alternative_splicing">Alternative splicing</a>, <script data-card-contents-for-ri="139002" type="text/json">{"id":139002,"name":"Alternative splicing","url":"https://www.academia.edu/Documents/in/Alternative_splicing?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="506082" href="https://www.academia.edu/Documents/in/Cancer_Cell">Cancer Cell</a><script data-card-contents-for-ri="506082" type="text/json">{"id":506082,"name":"Cancer Cell","url":"https://www.academia.edu/Documents/in/Cancer_Cell?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=53903836]'), work: {"id":53903836,"title":"Transcriptomic Characterization of SF3B1 Mutation Reveals Its Pleiotropic Effects in Chronic Lymphocytic Leukemia","created_at":"2021-09-29T02:43:53.660-07:00","url":"https://www.academia.edu/53903836/Transcriptomic_Characterization_of_SF3B1_Mutation_Reveals_Its_Pleiotropic_Effects_in_Chronic_Lymphocytic_Leukemia?f_ri=74780","dom_id":"work_53903836","summary":"Mutations in SF3B1, which encodes a spliceosome component, are associated with poor outcome in chronic lymphocytic leukemia (CLL), but how these contribute to CLL progression remains poorly understood. We undertook a transcriptomic characterization of primary human CLL cells to identify transcripts and pathways affected by SF3B1 mutation. Splicing alterations, identified in the analysis of bulk cells, were confirmed in single SF3B1-mutated CLL cells and also found in cell lines ectopically expressing mutant SF3B1. SF3B1 mutation was found to dysregulate multiple cellular functions including DNA damage response, telomere maintenance, and Notch signaling (mediated through KLF8 upregulation, increased TERC and TERT expression, or altered splicing of DVL2 transcript, respectively). SF3B1 mutation leads to diverse changes in CLL-related pathways.","downloadable_attachments":[{"id":70525382,"asset_id":53903836,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":133690862,"first_name":"Kevin","last_name":"Chau","domain_name":"sydney","page_name":"KevinChau","display_name":"Kevin Chau","profile_url":"https://sydney.academia.edu/KevinChau?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":38831,"name":"Signal Transduction","url":"https://www.academia.edu/Documents/in/Signal_Transduction?f_ri=74780","nofollow":false},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false},{"id":139002,"name":"Alternative splicing","url":"https://www.academia.edu/Documents/in/Alternative_splicing?f_ri=74780","nofollow":false},{"id":506082,"name":"Cancer Cell","url":"https://www.academia.edu/Documents/in/Cancer_Cell?f_ri=74780","nofollow":false},{"id":635694,"name":"Alternative Splicing","url":"https://www.academia.edu/Documents/in/Alternative_Splicing-1?f_ri=74780"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences?f_ri=74780"},{"id":1810445,"name":"Gene expression profiling","url":"https://www.academia.edu/Documents/in/Gene_expression_profiling?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_51695752" data-work_id="51695752" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/51695752/Characterization_of_the_Interactions_Between_Cucumber_mosaic_virus_and_Potato_virus_Y_in_Mixed_Infections_in_Tomato">Characterization of the Interactions Between Cucumber mosaic virus and Potato virus Y in Mixed Infections in Tomato</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Mixed infection with the SON41 strain of Potato virus Y (PVY-SON41) in tomato increased accumulation of RNAs of strains Fny and LS of Cucumber mosaic virus (CMV-Fny and CMV-LS, respectively) and enhanced disease symptoms. By contrast,... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_51695752" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Mixed infection with the SON41 strain of Potato virus Y (PVY-SON41) in tomato increased accumulation of RNAs of strains Fny and LS of Cucumber mosaic virus (CMV-Fny and CMV-LS, respectively) and enhanced disease symptoms. By contrast, replication of PVY-SON41 was downregulated by CMV-Fny and this was due to the CMV-Fny 2b protein. The CMV-FnyΔ2b mutant was unable to systemically invade the tomato plant because its movement was blocked at the bundle sheath of the phloem. The function needed for invading the phloem was complemented by PVY-SON41 in plants grown at 22°C whereas this complementation was not necessary in plants grown at 15°C. Mutations in the 2b protein coding sequence of CMV-Fny as well as inhibition of translation of the 2a/2b overlapping region of the 2a protein lessened both the accumulation of viral RNAs and the severity of symptoms. Both of these functions were complemented by PVY-SON41. Infection of CMV-Fny supporting replication of the Tfn-satellite RNA reduced th...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/51695752" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="98f5f549704f73a91b4877ac2d8430a6" rel="nofollow" data-download="{"attachment_id":69305716,"asset_id":51695752,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/69305716/download_file?st=MTczMjcwMjIwMSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="98117178" href="https://cnr-it.academia.edu/FabrizioCillo">Fabrizio Cillo</a><script data-card-contents-for-user="98117178" type="text/json">{"id":98117178,"first_name":"Fabrizio","last_name":"Cillo","domain_name":"cnr-it","page_name":"FabrizioCillo","display_name":"Fabrizio Cillo","profile_url":"https://cnr-it.academia.edu/FabrizioCillo?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_51695752 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="51695752"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 51695752, container: ".js-paper-rank-work_51695752", }); 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By contrast, replication of PVY-SON41 was downregulated by CMV-Fny and this was due to the CMV-Fny 2b protein. The CMV-FnyΔ2b mutant was unable to systemically invade the tomato plant because its movement was blocked at the bundle sheath of the phloem. The function needed for invading the phloem was complemented by PVY-SON41 in plants grown at 22°C whereas this complementation was not necessary in plants grown at 15°C. Mutations in the 2b protein coding sequence of CMV-Fny as well as inhibition of translation of the 2a/2b overlapping region of the 2a protein lessened both the accumulation of viral RNAs and the severity of symptoms. Both of these functions were complemented by PVY-SON41. Infection of CMV-Fny supporting replication of the Tfn-satellite RNA reduced th...","downloadable_attachments":[{"id":69305716,"asset_id":51695752,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":98117178,"first_name":"Fabrizio","last_name":"Cillo","domain_name":"cnr-it","page_name":"FabrizioCillo","display_name":"Fabrizio Cillo","profile_url":"https://cnr-it.academia.edu/FabrizioCillo?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=74780","nofollow":false},{"id":159,"name":"Microbiology","url":"https://www.academia.edu/Documents/in/Microbiology?f_ri=74780","nofollow":false},{"id":5541,"name":"Plant Biology","url":"https://www.academia.edu/Documents/in/Plant_Biology?f_ri=74780","nofollow":false},{"id":25657,"name":"Plant Molecular Biology","url":"https://www.academia.edu/Documents/in/Plant_Molecular_Biology?f_ri=74780","nofollow":false},{"id":66973,"name":"Plant diseases","url":"https://www.academia.edu/Documents/in/Plant_diseases?f_ri=74780"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":82145,"name":"Virus","url":"https://www.academia.edu/Documents/in/Virus?f_ri=74780"},{"id":133177,"name":"Temperature","url":"https://www.academia.edu/Documents/in/Temperature?f_ri=74780"},{"id":176243,"name":"Phloem","url":"https://www.academia.edu/Documents/in/Phloem?f_ri=74780"},{"id":198630,"name":"Molecular Plant Microbe Interactions","url":"https://www.academia.edu/Documents/in/Molecular_Plant_Microbe_Interactions?f_ri=74780"},{"id":564460,"name":"Protoplasts","url":"https://www.academia.edu/Documents/in/Protoplasts?f_ri=74780"},{"id":1640340,"name":"Lycopersicon esculentum","url":"https://www.academia.edu/Documents/in/Lycopersicon_esculentum?f_ri=74780"},{"id":1905343,"name":"Plant Leaves","url":"https://www.academia.edu/Documents/in/Plant_Leaves?f_ri=74780"},{"id":3477864,"name":"Potyvirus","url":"https://www.academia.edu/Documents/in/Potyvirus?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_51397528" data-work_id="51397528" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/51397528/The_genetics_and_molecular_genetics_of_terpene_and_sterol_origami">The genetics and molecular genetics of terpene and sterol origami</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Terpenes and sterols are complex molecules synthesized by equally complex biosynthetic pathways. Recent progress in using the tools of genetics, molecular genetics and genetic engineering to dissect triterpene metabolism in the cytosol,... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_51397528" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Terpenes and sterols are complex molecules synthesized by equally complex biosynthetic pathways. 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A computerized SAR system (ADAPT) was utilized to classify a data set of 114 nitrogenous cyclic compounds... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_31698056" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Study of the relationship between mutagenicity and molecular structure for a data set of nitrogenous cyclic compounds is reported. A computerized SAR system (ADAPT) was utilized to classify a data set of 114 nitrogenous cyclic compounds with 19 molecular descriptors. All of the descriptors represented at least 10% of the compounds in the data sets. The average correct predictability of the data base was calculated to be 89% after evaluating 100 training/prediction subsets. The actual predictive ability of the discriminants generated by the ADAPT system was demonstrated by predicting the mutagenicity of structurally similar compounds not in the data set. Weight vectors generated in the pattern recognition programs were used to predict the bacterial mutagenicity of 10 compounds which were not included in the data set. All of the compounds were predicted correctly which was actually better than the 89% calculated by the system. This displayed the ability of the system of classify compo...</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/31698056" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="1cc4b9be81b5dd11b82a67a010422084" rel="nofollow" data-download="{"attachment_id":52014188,"asset_id":31698056,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/52014188/download_file?st=MTczMjcwMjIwMSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="3260303" href="https://independent.academia.edu/LarryClaxton">Larry D Claxton</a><script data-card-contents-for-user="3260303" type="text/json">{"id":3260303,"first_name":"Larry","last_name":"Claxton","domain_name":"independent","page_name":"LarryClaxton","display_name":"Larry D Claxton","profile_url":"https://independent.academia.edu/LarryClaxton?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_31698056 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="31698056"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 31698056, container: ".js-paper-rank-work_31698056", }); 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A computerized SAR system (ADAPT) was utilized to classify a data set of 114 nitrogenous cyclic compounds with 19 molecular descriptors. All of the descriptors represented at least 10% of the compounds in the data sets. The average correct predictability of the data base was calculated to be 89% after evaluating 100 training/prediction subsets. The actual predictive ability of the discriminants generated by the ADAPT system was demonstrated by predicting the mutagenicity of structurally similar compounds not in the data set. Weight vectors generated in the pattern recognition programs were used to predict the bacterial mutagenicity of 10 compounds which were not included in the data set. All of the compounds were predicted correctly which was actually better than the 89% calculated by the system. This displayed the ability of the system of classify compo...","downloadable_attachments":[{"id":52014188,"asset_id":31698056,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":3260303,"first_name":"Larry","last_name":"Claxton","domain_name":"independent","page_name":"LarryClaxton","display_name":"Larry D Claxton","profile_url":"https://independent.academia.edu/LarryClaxton?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":5109,"name":"Pattern Recognition","url":"https://www.academia.edu/Documents/in/Pattern_Recognition?f_ri=74780","nofollow":false},{"id":53293,"name":"Software","url":"https://www.academia.edu/Documents/in/Software?f_ri=74780","nofollow":false},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false},{"id":102637,"name":"Salmonella 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href="https://www.academia.edu/4606244/The_G191R_variant_in_the_PRSS2_gene_does_not_play_a_role_in_protection_against_tropical_calcific_pancreatitis">The G191R variant in the PRSS2 gene does not play a role in protection against tropical calcific pancreatitis</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/4606244" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="12bcc77506322b2b0952638661bef7d6" rel="nofollow" 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type="text/json">{"id":43838,"name":"India","url":"https://www.academia.edu/Documents/in/India?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="74780" href="https://www.academia.edu/Documents/in/Mutation">Mutation</a>, <script data-card-contents-for-ri="74780" type="text/json">{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="167158" href="https://www.academia.edu/Documents/in/Trypsin">Trypsin</a><script data-card-contents-for-ri="167158" type="text/json">{"id":167158,"name":"Trypsin","url":"https://www.academia.edu/Documents/in/Trypsin?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=4606244]'), work: {"id":4606244,"title":"The G191R variant in the PRSS2 gene does not play a role in protection against tropical 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js-work-link" href="https://www.academia.edu/4798874/In_vitro_and_in_vivo_genotoxic_activity_of_miral_an_organophosphorus_insecticide_used_in_Colombia">In vitro and in vivo genotoxic activity of miral, an organophosphorus insecticide used in Colombia</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/4798874" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="fc1aaa69c024e866a5049732ddfd822a" rel="nofollow" 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Toxicology","url":"https://www.academia.edu/Documents/in/Genetic_Toxicology?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="9113" href="https://www.academia.edu/Documents/in/Cell_Cycle">Cell Cycle</a>, <script data-card-contents-for-ri="9113" type="text/json">{"id":9113,"name":"Cell Cycle","url":"https://www.academia.edu/Documents/in/Cell_Cycle?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="22050" href="https://www.academia.edu/Documents/in/Cytotoxicity">Cytotoxicity</a><script data-card-contents-for-ri="22050" type="text/json">{"id":22050,"name":"Cytotoxicity","url":"https://www.academia.edu/Documents/in/Cytotoxicity?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=4798874]'), work: {"id":4798874,"title":"In vitro and in vivo genotoxic activity of miral, an organophosphorus insecticide used in 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neuron","url":"https://www.academia.edu/Documents/in/Motor_neuron?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="37931" href="https://www.academia.edu/Documents/in/Transgenic_Mice">Transgenic Mice</a><script data-card-contents-for-ri="37931" type="text/json">{"id":37931,"name":"Transgenic Mice","url":"https://www.academia.edu/Documents/in/Transgenic_Mice?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=4846255]'), work: {"id":4846255,"title":"Age-Dependent Penetrance of Disease in a Transgenic Mouse Model of Familial Amyotrophic Lateral 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Regeneration","url":"https://www.academia.edu/Documents/in/Nerve_Regeneration?f_ri=74780"},{"id":594811,"name":"Cellular and Molecular Neuroscience","url":"https://www.academia.edu/Documents/in/Cellular_and_Molecular_Neuroscience?f_ri=74780"},{"id":994239,"name":"Transgenic Mouse Technology","url":"https://www.academia.edu/Documents/in/Transgenic_Mouse_Technology?f_ri=74780"},{"id":1239755,"name":"Neurosciences","url":"https://www.academia.edu/Documents/in/Neurosciences?f_ri=74780"},{"id":2428330,"name":"Vacuoles","url":"https://www.academia.edu/Documents/in/Vacuoles?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_28588158" data-work_id="28588158" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/28588158/Recognition_of_streptococcal_DNA_by_a_mutant_pneumococcus_unable_to_discriminate_among_markers_in_pneumococcal_DNA">Recognition of streptococcal DNA by a mutant pneumococcus unable to discriminate among markers in pneumococcal DNA</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">A mutant strain of pneumococcus which fails to discriminate against low-efficiency markers during transformation by homospecific pneumococcal donor DNA retains the wild-type capacity to discriminate against heterospecific (streptococcal)... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_28588158" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">A mutant strain of pneumococcus which fails to discriminate against low-efficiency markers during transformation by homospecific pneumococcal donor DNA retains the wild-type capacity to discriminate against heterospecific (streptococcal) donor DNA. We conclude that discrimination against heterospecific DNA must differ from that against low-efficiency markers by the kind or number of elements being recognized.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/28588158" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="627aa72fae22fab0a5eef59226ce719b" rel="nofollow" data-download="{"attachment_id":48950164,"asset_id":28588158,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/48950164/download_file?st=MTczMjcwMjIwMSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="53623660" href="https://independent.academia.edu/GTiraby">G. 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We conclude that discrimination against heterospecific DNA must differ from that against low-efficiency markers by the kind or number of elements being recognized.","downloadable_attachments":[{"id":48950164,"asset_id":28588158,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":53623660,"first_name":"G.","last_name":"Tiraby","domain_name":"independent","page_name":"GTiraby","display_name":"G. Tiraby","profile_url":"https://independent.academia.edu/GTiraby?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":156,"name":"Genetics","url":"https://www.academia.edu/Documents/in/Genetics?f_ri=74780","nofollow":false},{"id":28920,"name":"Streptococcus pneumoniae","url":"https://www.academia.edu/Documents/in/Streptococcus_pneumoniae?f_ri=74780","nofollow":false},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false},{"id":143509,"name":"Genetic transformation","url":"https://www.academia.edu/Documents/in/Genetic_transformation?f_ri=74780","nofollow":false},{"id":498553,"name":"Streptococcus","url":"https://www.academia.edu/Documents/in/Streptococcus?f_ri=74780"},{"id":561014,"name":"Microbial Sensitivity Tests","url":"https://www.academia.edu/Documents/in/Microbial_Sensitivity_Tests?f_ri=74780"},{"id":587530,"name":"Fusidic Acid","url":"https://www.academia.edu/Documents/in/Fusidic_Acid?f_ri=74780"},{"id":658966,"name":"Erythromycin","url":"https://www.academia.edu/Documents/in/Erythromycin?f_ri=74780"},{"id":756838,"name":"Streptomycin","url":"https://www.academia.edu/Documents/in/Streptomycin?f_ri=74780"},{"id":784076,"name":"Species Specificity","url":"https://www.academia.edu/Documents/in/Species_Specificity?f_ri=74780"},{"id":1270185,"name":"Lincomycin","url":"https://www.academia.edu/Documents/in/Lincomycin?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_28247974" data-work_id="28247974" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/28247974/From_genes_to_pain_Na_v_1_7_and_human_pain_disorders">From genes to pain: Na v 1.7 and human pain disorders</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Gain-of-function mutations or dysregulated expression of voltage-gated sodium channels can produce neuronal hyperexcitability, leading to acute or chronic pain. The sodium channel Na(v)1.7 is expressed preferentially in most slowly... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_28247974" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Gain-of-function mutations or dysregulated expression of voltage-gated sodium channels can produce neuronal hyperexcitability, leading to acute or chronic pain. The sodium channel Na(v)1.7 is expressed preferentially in most slowly conducting nociceptive neurons and in sympathetic neurons. Gain-of-function mutations in the Na(v)1.7 channel lead to DRG neuron hyperexcitability associated with severe pain, whereas loss of the Na(v)1.7 channel in patients leads to indifference to pain. The contribution of Na(v)1.7 to acquired and inherited pain states and the absence of motor, cognitive and cardiac deficits in patients lacking this channel make it an attractive target for the treatment of neuropathic pain.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/28247974" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="cedaf2ed6993be2a45845c4effbc2296" rel="nofollow" data-download="{"attachment_id":48568156,"asset_id":28247974,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/48568156/download_file?st=MTczMjcwMjIwMSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="52941627" href="https://independent.academia.edu/SulaymanDibhajj">Sulayman Dib-hajj</a><script data-card-contents-for-user="52941627" type="text/json">{"id":52941627,"first_name":"Sulayman","last_name":"Dib-hajj","domain_name":"independent","page_name":"SulaymanDibhajj","display_name":"Sulayman Dib-hajj","profile_url":"https://independent.academia.edu/SulaymanDibhajj?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_28247974 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="28247974"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 28247974, container: ".js-paper-rank-work_28247974", }); 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$(".js-view-count[data-work-id=28247974]").text(description); $(".js-view-count-work_28247974").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_28247974").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="28247974"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">8</a>  </div><span class="InlineList-item-text u-textTruncate u-pl9x"><a class="InlineList-item-text" data-has-card-for-ri="237" href="https://www.academia.edu/Documents/in/Cognitive_Science">Cognitive Science</a>, <script data-card-contents-for-ri="237" type="text/json">{"id":237,"name":"Cognitive Science","url":"https://www.academia.edu/Documents/in/Cognitive_Science?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="74780" href="https://www.academia.edu/Documents/in/Mutation">Mutation</a>, <script data-card-contents-for-ri="74780" type="text/json">{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="79411" href="https://www.academia.edu/Documents/in/TRENDS">TRENDS</a>, <script data-card-contents-for-ri="79411" type="text/json">{"id":79411,"name":"TRENDS","url":"https://www.academia.edu/Documents/in/TRENDS?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="193974" href="https://www.academia.edu/Documents/in/Neurons">Neurons</a><script data-card-contents-for-ri="193974" type="text/json">{"id":193974,"name":"Neurons","url":"https://www.academia.edu/Documents/in/Neurons?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=28247974]'), work: {"id":28247974,"title":"From genes to pain: Na v 1.7 and human pain disorders","created_at":"2016-09-04T13:02:19.575-07:00","url":"https://www.academia.edu/28247974/From_genes_to_pain_Na_v_1_7_and_human_pain_disorders?f_ri=74780","dom_id":"work_28247974","summary":"Gain-of-function mutations or dysregulated expression of voltage-gated sodium channels can produce neuronal hyperexcitability, leading to acute or chronic pain. The sodium channel Na(v)1.7 is expressed preferentially in most slowly conducting nociceptive neurons and in sympathetic neurons. Gain-of-function mutations in the Na(v)1.7 channel lead to DRG neuron hyperexcitability associated with severe pain, whereas loss of the Na(v)1.7 channel in patients leads to indifference to pain. The contribution of Na(v)1.7 to acquired and inherited pain states and the absence of motor, cognitive and cardiac deficits in patients lacking this channel make it an attractive target for the treatment of neuropathic pain.","downloadable_attachments":[{"id":48568156,"asset_id":28247974,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":52941627,"first_name":"Sulayman","last_name":"Dib-hajj","domain_name":"independent","page_name":"SulaymanDibhajj","display_name":"Sulayman Dib-hajj","profile_url":"https://independent.academia.edu/SulaymanDibhajj?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":237,"name":"Cognitive 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Filippo","profile_url":"https://independent.academia.edu/MathildeDiFilippo?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":19632,"name":"Molecular Genetics","url":"https://www.academia.edu/Documents/in/Molecular_Genetics?f_ri=74780","nofollow":false},{"id":52055,"name":"Lipids","url":"https://www.academia.edu/Documents/in/Lipids?f_ri=74780","nofollow":false},{"id":64933,"name":"Child","url":"https://www.academia.edu/Documents/in/Child?f_ri=74780","nofollow":false},{"id":67484,"name":"Sequence alignment","url":"https://www.academia.edu/Documents/in/Sequence_alignment?f_ri=74780","nofollow":false},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":134346,"name":"Infant","url":"https://www.academia.edu/Documents/in/Infant?f_ri=74780"},{"id":151406,"name":"Functional impairment","url":"https://www.academia.edu/Documents/in/Functional_impairment?f_ri=74780"},{"id":244582,"name":"Fabry Disease","url":"https://www.academia.edu/Documents/in/Fabry_Disease?f_ri=74780"},{"id":244814,"name":"Clinical Sciences","url":"https://www.academia.edu/Documents/in/Clinical_Sciences?f_ri=74780"},{"id":253560,"name":"Newborn Infant","url":"https://www.academia.edu/Documents/in/Newborn_Infant?f_ri=74780"},{"id":653665,"name":"Protein Conformation","url":"https://www.academia.edu/Documents/in/Protein_Conformation?f_ri=74780"},{"id":809881,"name":"Amino Acid Sequence","url":"https://www.academia.edu/Documents/in/Amino_Acid_Sequence?f_ri=74780"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence?f_ri=74780"},{"id":961812,"name":"Autosomal Recessive","url":"https://www.academia.edu/Documents/in/Autosomal_Recessive?f_ri=74780"},{"id":967839,"name":"Structure activity Relationship","url":"https://www.academia.edu/Documents/in/Structure_activity_Relationship?f_ri=74780"},{"id":1193049,"name":"Chylomicron","url":"https://www.academia.edu/Documents/in/Chylomicron?f_ri=74780"},{"id":2467566,"name":"Molecular Sequence Data","url":"https://www.academia.edu/Documents/in/Molecular_Sequence_Data?f_ri=74780"},{"id":2482159,"name":"DNA mutational analysis","url":"https://www.academia.edu/Documents/in/DNA_mutational_analysis?f_ri=74780"},{"id":2489700,"name":"Child preschool","url":"https://www.academia.edu/Documents/in/Child_preschool?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_7963467" data-work_id="7963467" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/7963467/Fis1_deficiency_selects_for_compensatory_mutations_responsible_for_cell_death_and_growth_control_defects">Fis1 deficiency selects for compensatory mutations responsible for cell death and growth control defects</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/7963467" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="f13c7ed700aa9188b305a9fd044fe38c" rel="nofollow" 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window.Academia.workPercentilesFetcher.queue(workId, function (percentileText) { var container = $(".js-percentile-work_7963467"); container.find('.work-percentile').text(percentileText.charAt(0).toUpperCase() + percentileText.slice(1)); container.find('.percentile-widget').show(); container.find('.percentile-widget').removeClass('hidden'); }); });</script></li><li class="js-view-count-work_7963467 InlineList-item InlineList-item--bordered hidden"><div><span><span class="js-view-count view-count u-mr2x" data-work-id="7963467"><i class="fa fa-spinner fa-spin"></i></span><script>$(function () { var workId = 7963467; window.Academia.workViewCountsFetcher.queue(workId, function (count) { var description = window.$h.commaizeInt(count) + " " + window.$h.pluralize(count, 'View'); $(".js-view-count[data-work-id=7963467]").text(description); $(".js-view-count-work_7963467").attr('title', description).tooltip(); }); });</script></span><script>$(function() { 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Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="49123" href="https://www.academia.edu/Documents/in/Saccharomyces_cerevisiae">Saccharomyces cerevisiae</a>, <script data-card-contents-for-ri="49123" type="text/json">{"id":49123,"name":"Saccharomyces cerevisiae","url":"https://www.academia.edu/Documents/in/Saccharomyces_cerevisiae?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="74780" href="https://www.academia.edu/Documents/in/Mutation">Mutation</a><script data-card-contents-for-ri="74780" type="text/json">{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=7963467]'), work: {"id":7963467,"title":"Fis1 deficiency selects for compensatory 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Sciences","url":"https://www.academia.edu/Documents/in/Biological_Sciences?f_ri=74780","nofollow":false},{"id":49123,"name":"Saccharomyces cerevisiae","url":"https://www.academia.edu/Documents/in/Saccharomyces_cerevisiae?f_ri=74780","nofollow":false},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false},{"id":186941,"name":"Gene Duplication","url":"https://www.academia.edu/Documents/in/Gene_Duplication?f_ri=74780"},{"id":295928,"name":"Amino Acids","url":"https://www.academia.edu/Documents/in/Amino_Acids?f_ri=74780"},{"id":782251,"name":"Cell Proliferation","url":"https://www.academia.edu/Documents/in/Cell_Proliferation?f_ri=74780"},{"id":809881,"name":"Amino Acid Sequence","url":"https://www.academia.edu/Documents/in/Amino_Acid_Sequence?f_ri=74780"},{"id":809882,"name":"Base Sequence","url":"https://www.academia.edu/Documents/in/Base_Sequence?f_ri=74780"},{"id":988943,"name":"Microbial Viability","url":"https://www.academia.edu/Documents/in/Microbial_Viability?f_ri=74780"},{"id":2445801,"name":"Mitochondrial Proteins","url":"https://www.academia.edu/Documents/in/Mitochondrial_Proteins?f_ri=74780"},{"id":2467566,"name":"Molecular Sequence Data","url":"https://www.academia.edu/Documents/in/Molecular_Sequence_Data?f_ri=74780"},{"id":2482159,"name":"DNA mutational analysis","url":"https://www.academia.edu/Documents/in/DNA_mutational_analysis?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_10571825" data-work_id="10571825" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/10571825/Griscelli_Syndrome_Characterization_of_a_New_Mutation_and_Rescue_of_T_Cytotoxic_Activity_by_Retroviral_Transfer_of_RAB27A_Gene">Griscelli Syndrome: Characterization of a New Mutation and Rescue of T-Cytotoxic Activity by Retroviral Transfer of RAB27A Gene</a></div></div><div class="u-pb4x u-mt3x"><div class="summary u-fs14 u-fw300 u-lineHeight1_5 u-tcGrayDarkest"><div class="summarized">Griscelli syndrome (GS) is caused by mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes, all of which lead to a similar pigmentary dilution. In addition, GS1 patients show primary neurological impairment, whereas GS2 patients... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_10571825" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Griscelli syndrome (GS) is caused by mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes, all of which lead to a similar pigmentary dilution. In addition, GS1 patients show primary neurological impairment, whereas GS2 patients present immunodeficiency and periods of lymphocyte proliferation and activation, leading to their infiltration in many organs, such as the nervous system, causing secondary neurological damage. We report the diagnosis of GS2 in a 4-year-old child with haemophagocytic syndrome, immunodeficiency, and secondary neurological disorders. Typical melanosome accumulation was found in skin melanocytes and pigment clumps were observed in hair shafts. Two heterozygous mutant alleles of the RAB27A gene were found, a C-T transition (C352T) that leads to Q118stop and a G-C transversion on the exon 5 splicing donor site (G467+1C). Functional assays showed increased cellular activation and decreased cytotoxic activity of NK and CD8+ T cells, associated with defective lytic granules release. Myosin-Va expression and localization in the patient lymphocytes were also analyzed. Most importantly, we show that cytotoxic activity of the patient's CD8+ T lymphocytes can be rescued in vitro by RAB27A gene transfer mediated by a recombinant retroviral vector, a first step towards a potential treatment of the acute phase of GS2 by RAB27A transduced lymphocytes.</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/10571825" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="3a034084700567ded0c07c206462fc17" rel="nofollow" data-download="{"attachment_id":47292607,"asset_id":10571825,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/47292607/download_file?st=MTczMjcwMjIwMSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="25875585" href="https://independent.academia.edu/fabiolacastro4">fabiola castro</a><script data-card-contents-for-user="25875585" type="text/json">{"id":25875585,"first_name":"fabiola","last_name":"castro","domain_name":"independent","page_name":"fabiolacastro4","display_name":"fabiola castro","profile_url":"https://independent.academia.edu/fabiolacastro4?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_10571825 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="10571825"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 10571825, container: ".js-paper-rank-work_10571825", }); 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$(".js-view-count[data-work-id=10571825]").text(description); $(".js-view-count-work_10571825").attr('title', description).tooltip(); }); });</script></span><script>$(function() { $(".js-view-count-work_10571825").removeClass('hidden') })</script></div></li><li class="InlineList-item u-positionRelative" style="max-width: 250px"><div class="u-positionAbsolute" data-has-card-for-ri-list="10571825"><i class="fa fa-tag InlineList-item-icon u-positionRelative"></i>  <a class="InlineList-item-text u-positionRelative">14</a>  </div><span class="InlineList-item-text u-textTruncate u-pl10x"><a class="InlineList-item-text" data-has-card-for-ri="1290" href="https://www.academia.edu/Documents/in/Immunology">Immunology</a>, <script data-card-contents-for-ri="1290" type="text/json">{"id":1290,"name":"Immunology","url":"https://www.academia.edu/Documents/in/Immunology?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="5350" href="https://www.academia.edu/Documents/in/Cell_Trafficking">Cell Trafficking</a>, <script data-card-contents-for-ri="5350" type="text/json">{"id":5350,"name":"Cell Trafficking","url":"https://www.academia.edu/Documents/in/Cell_Trafficking?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="7864" href="https://www.academia.edu/Documents/in/Gene_Therapy">Gene Therapy</a>, <script data-card-contents-for-ri="7864" type="text/json">{"id":7864,"name":"Gene Therapy","url":"https://www.academia.edu/Documents/in/Gene_Therapy?f_ri=74780","nofollow":false}</script><a class="InlineList-item-text" data-has-card-for-ri="12426" href="https://www.academia.edu/Documents/in/Treatment_Outcome">Treatment Outcome</a><script data-card-contents-for-ri="12426" type="text/json">{"id":12426,"name":"Treatment Outcome","url":"https://www.academia.edu/Documents/in/Treatment_Outcome?f_ri=74780","nofollow":false}</script></span></li><script>(function(){ if (true) { new Aedu.ResearchInterestListCard({ el: $('*[data-has-card-for-ri-list=10571825]'), work: {"id":10571825,"title":"Griscelli Syndrome: Characterization of a New Mutation and Rescue of T-Cytotoxic Activity by Retroviral Transfer of RAB27A Gene","created_at":"2015-02-06T10:14:04.656-08:00","url":"https://www.academia.edu/10571825/Griscelli_Syndrome_Characterization_of_a_New_Mutation_and_Rescue_of_T_Cytotoxic_Activity_by_Retroviral_Transfer_of_RAB27A_Gene?f_ri=74780","dom_id":"work_10571825","summary":"Griscelli syndrome (GS) is caused by mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes, all of which lead to a similar pigmentary dilution. In addition, GS1 patients show primary neurological impairment, whereas GS2 patients present immunodeficiency and periods of lymphocyte proliferation and activation, leading to their infiltration in many organs, such as the nervous system, causing secondary neurological damage. We report the diagnosis of GS2 in a 4-year-old child with haemophagocytic syndrome, immunodeficiency, and secondary neurological disorders. Typical melanosome accumulation was found in skin melanocytes and pigment clumps were observed in hair shafts. Two heterozygous mutant alleles of the RAB27A gene were found, a C-T transition (C352T) that leads to Q118stop and a G-C transversion on the exon 5 splicing donor site (G467+1C). Functional assays showed increased cellular activation and decreased cytotoxic activity of NK and CD8+ T cells, associated with defective lytic granules release. Myosin-Va expression and localization in the patient lymphocytes were also analyzed. Most importantly, we show that cytotoxic activity of the patient's CD8+ T lymphocytes can be rescued in vitro by RAB27A gene transfer mediated by a recombinant retroviral vector, a first step towards a potential treatment of the acute phase of GS2 by RAB27A transduced lymphocytes.","downloadable_attachments":[{"id":47292607,"asset_id":10571825,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":25875585,"first_name":"fabiola","last_name":"castro","domain_name":"independent","page_name":"fabiolacastro4","display_name":"fabiola castro","profile_url":"https://independent.academia.edu/fabiolacastro4?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":1290,"name":"Immunology","url":"https://www.academia.edu/Documents/in/Immunology?f_ri=74780","nofollow":false},{"id":5350,"name":"Cell Trafficking","url":"https://www.academia.edu/Documents/in/Cell_Trafficking?f_ri=74780","nofollow":false},{"id":7864,"name":"Gene Therapy","url":"https://www.academia.edu/Documents/in/Gene_Therapy?f_ri=74780","nofollow":false},{"id":12426,"name":"Treatment Outcome","url":"https://www.academia.edu/Documents/in/Treatment_Outcome?f_ri=74780","nofollow":false},{"id":49484,"name":"Clinical immunology","url":"https://www.academia.edu/Documents/in/Clinical_immunology?f_ri=74780"},{"id":70247,"name":"Natural Killer cells","url":"https://www.academia.edu/Documents/in/Natural_Killer_cells?f_ri=74780"},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780"},{"id":188349,"name":"Pedigree","url":"https://www.academia.edu/Documents/in/Pedigree?f_ri=74780"},{"id":382460,"name":"Cytotoxic Activity","url":"https://www.academia.edu/Documents/in/Cytotoxic_Activity?f_ri=74780"},{"id":637718,"name":"Nervous System","url":"https://www.academia.edu/Documents/in/Nervous_System?f_ri=74780"},{"id":1423078,"name":"Nervous System Diseases","url":"https://www.academia.edu/Documents/in/Nervous_System_Diseases?f_ri=74780"},{"id":1706341,"name":"Gene Transfer","url":"https://www.academia.edu/Documents/in/Gene_Transfer?f_ri=74780"},{"id":2482159,"name":"DNA mutational analysis","url":"https://www.academia.edu/Documents/in/DNA_mutational_analysis?f_ri=74780"},{"id":2489700,"name":"Child preschool","url":"https://www.academia.edu/Documents/in/Child_preschool?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_25892249" data-work_id="25892249" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/25892249/Caffeoyl_Shikimate_Esterase_CSE_Is_an_Enzyme_in_the_Lignin_Biosynthetic_Pathway_in_Arabidopsis">Caffeoyl Shikimate Esterase (CSE) Is an Enzyme in the Lignin Biosynthetic Pathway in Arabidopsis</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/25892249" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="6b7ca140e04d71c983f7733cf7e9fe39" rel="nofollow" data-download="{"attachment_id":46257662,"asset_id":25892249,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" 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Arabidopsis","created_at":"2016-06-05T13:13:45.122-07:00","url":"https://www.academia.edu/25892249/Caffeoyl_Shikimate_Esterase_CSE_Is_an_Enzyme_in_the_Lignin_Biosynthetic_Pathway_in_Arabidopsis?f_ri=74780","dom_id":"work_25892249","summary":null,"downloadable_attachments":[{"id":46257662,"asset_id":25892249,"asset_type":"Work","always_allow_download":false}],"ordered_authors":[{"id":38331229,"first_name":"Ruben","last_name":"Vanholme","domain_name":"independent","page_name":"RubenVanholme","display_name":"Ruben Vanholme","profile_url":"https://independent.academia.edu/RubenVanholme?f_ri=74780","photo":"/images/s65_no_pic.png"}],"research_interests":[{"id":6779,"name":"Science","url":"https://www.academia.edu/Documents/in/Science?f_ri=74780","nofollow":false},{"id":28235,"name":"Multidisciplinary","url":"https://www.academia.edu/Documents/in/Multidisciplinary?f_ri=74780","nofollow":false},{"id":71289,"name":"Glucose","url":"https://www.academia.edu/Documents/in/Glucose?f_ri=74780","nofollow":false},{"id":74780,"name":"Mutation","url":"https://www.academia.edu/Documents/in/Mutation?f_ri=74780","nofollow":false},{"id":173023,"name":"Lignin","url":"https://www.academia.edu/Documents/in/Lignin?f_ri=74780"},{"id":202413,"name":"Arabidopsis","url":"https://www.academia.edu/Documents/in/Arabidopsis?f_ri=74780"},{"id":432129,"name":"Substrate Specificity","url":"https://www.academia.edu/Documents/in/Substrate_Specificity?f_ri=74780"},{"id":1583868,"name":"Shikimic acid","url":"https://www.academia.edu/Documents/in/Shikimic_acid?f_ri=74780"}]}, }) } })();</script></ul></li></ul></div></div><div class="u-borderBottom1 u-borderColorGrayLighter"><div class="clearfix u-pv7x u-mb0x js-work-card work_13347862" data-work_id="13347862" itemscope="itemscope" itemtype="https://schema.org/ScholarlyArticle"><div class="header"><div class="title u-fontSerif u-fs22 u-lineHeight1_3"><a class="u-tcGrayDarkest js-work-link" href="https://www.academia.edu/13347862/PepN_is_the_major_aminopeptidase_in_Escherichia_coli_insights_on_substrate_specificity_and_role_during_sodium_salicylate_induced_stress">PepN is the major aminopeptidase in Escherichia coli: insights on substrate specificity and role during sodium-salicylate-induced stress</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm 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define the pathology of C9orf72-linked FTLD and MND/ALS</a></div></div><div class="u-pb4x u-mt3x"></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/13442135" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="8a777737c723555eb6486e384a4bce87" rel="nofollow" data-download="{"attachment_id":45338914,"asset_id":13442135,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" 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dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 gene. In a large family affected by LGMD2A with four severely affected members, three additional asymptomatic relatives had very high serum creatine... <a class="more_link u-tcGrayDark u-linkUnstyled" data-container=".work_14125808" data-show=".complete" data-hide=".summarized" data-more-link-behavior="true" href="#">more</a></div><div class="complete hidden">Limb girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 gene. In a large family affected by LGMD2A with four severely affected members, three additional asymptomatic relatives had very high serum creatine kinase concentrations. All were homozygous for the R110X mutation and showed a total absence of calpain 3 in the muscle. Histological analysis of</div></div></div><ul class="InlineList u-ph0x u-fs13"><li class="InlineList-item logged_in_only"><div class="share_on_academia_work_button"><a class="academia_share Button Button--inverseBlue Button--sm js-bookmark-button" data-academia-share="Work/14125808" data-share-source="work_strip" data-spinner="small_white_hide_contents"><i class="fa fa-plus"></i><span class="work-strip-link-text u-ml1x" data-content="button_text">Bookmark</span></a></div></li><li class="InlineList-item"><div class="download"><a id="979fa0cb2d5de8e8f1d3fc6a5b8d5db3" rel="nofollow" data-download="{"attachment_id":44580717,"asset_id":14125808,"asset_type":"Work","always_allow_download":false,"track":null,"button_location":"work_strip","source":null,"hide_modal":null}" class="Button Button--sm Button--inverseGreen js-download-button prompt_button doc_download" href="https://www.academia.edu/attachments/44580717/download_file?st=MTczMjcwMjIwMSw4LjIyMi4yMDguMTQ2&s=work_strip"><i class="fa fa-arrow-circle-o-down fa-lg"></i><span class="u-textUppercase u-ml1x" data-content="button_text">Download</span></a></div></li><li class="InlineList-item"><ul class="InlineList InlineList--bordered u-ph0x"><li class="InlineList-item InlineList-item--bordered"><span class="InlineList-item-text">by <span itemscope="itemscope" itemprop="author" itemtype="https://schema.org/Person"><a class="u-tcGrayDark u-fw700" data-has-card-for-user="33122200" href="https://usp-br.academia.edu/MarizVainzof">Mariz Vainzof</a><script data-card-contents-for-user="33122200" type="text/json">{"id":33122200,"first_name":"Mariz","last_name":"Vainzof","domain_name":"usp-br","page_name":"MarizVainzof","display_name":"Mariz Vainzof","profile_url":"https://usp-br.academia.edu/MarizVainzof?f_ri=74780","photo":"/images/s65_no_pic.png"}</script></span></span></li><li class="js-paper-rank-work_14125808 InlineList-item InlineList-item--bordered hidden"><span class="js-paper-rank-view hidden u-tcGrayDark" data-paper-rank-work-id="14125808"><i class="u-m1x fa fa-bar-chart"></i><strong class="js-paper-rank"></strong></span><script>$(function() { new Works.PaperRankView({ workId: 14125808, container: ".js-paper-rank-work_14125808", }); 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In a large family affected by LGMD2A with four severely affected members, three additional asymptomatic relatives had very high serum creatine kinase concentrations. All were homozygous for the R110X mutation and showed a total absence of calpain 3 in the muscle. 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u-linkUnstyled u-fw500 hidden" data-unfollow-ri-id="49123">Following</a></div></li><li class="list-group-item media_v2 u-mt0x u-p3x"><div class="media-body"><div class="u-tcGrayDarker u-fw700"><a class="u-tcGrayDarker" href="https://www.academia.edu/Documents/in/DNA_damage">DNA damage</a></div></div><div class="media-right media-middle"><a class="u-tcGreen u-textDecorationNone u-linkUnstyled u-fw500 hidden" data-follow-ri-id="23066">Follow</a><a class="u-tcGray u-textDecorationNone u-linkUnstyled u-fw500 hidden" data-unfollow-ri-id="23066">Following</a></div></li><li class="list-group-item media_v2 u-mt0x u-p3x"><div class="media-body"><div class="u-tcGrayDarker u-fw700"><a class="u-tcGrayDarker" href="https://www.academia.edu/Documents/in/Medical_Genetics">Medical Genetics</a></div></div><div class="media-right media-middle"><a class="u-tcGreen u-textDecorationNone u-linkUnstyled u-fw500 hidden" data-follow-ri-id="2568">Follow</a><a class="u-tcGray u-textDecorationNone u-linkUnstyled u-fw500 hidden" data-unfollow-ri-id="2568">Following</a></div></li><li class="list-group-item media_v2 u-mt0x u-p3x"><div class="media-body"><div class="u-tcGrayDarker u-fw700"><a class="u-tcGrayDarker" href="https://www.academia.edu/Documents/in/Biochemistry_and_cell_biology">Biochemistry and cell biology</a></div></div><div class="media-right media-middle"><a class="u-tcGreen u-textDecorationNone u-linkUnstyled u-fw500 hidden" data-follow-ri-id="1681026">Follow</a><a class="u-tcGray u-textDecorationNone u-linkUnstyled u-fw500 hidden" data-unfollow-ri-id="1681026">Following</a></div></li></ul></div></div></div></div></div></div><script>// MIT License // Copyright © 2011 Sebastian Tschan, https://blueimp.net // Permission is hereby granted, free of charge, to any person obtaining a copy of // this software and associated documentation files (the "Software"), to deal in // the Software without restriction, including without limitation the rights to // use, copy, modify, merge, publish, 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