Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

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new collection</label> </li> <li> <input type="radio" id="collections-action-panel-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="save_share" data-ga-action="collections" data-ga-label="collections_radio_existing"> <label for="collections-action-panel-existing">Add to an existing collection</label> </li> </ul> </div> <div class="controls-wrapper"> <div class="action-panel-control-wrap new-collections-controls"> <label for="collections-action-panel-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label> <input type="text" name="add-to-new-collection" id="collections-action-panel-add-to-new" class="collections-action-add-to-new" pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/" maxlength="100" data-ga-category="save_share" data-ga-action="create_collection" data-ga-label="non_favorties_collection"> <div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div> </div> <div class="action-panel-control-wrap existing-collections-controls"> <label for="collections-action-panel-add-to-existing" class="action-panel-label"> Choose a collection: </label> <select id="collections-action-panel-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="save_share" data-ga-action="select_collection" data-ga-label="($('#collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"> </select> <div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br> <a href="#">Please try again</a> </div> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="save_share" data-ga-action="collections" data-ga-label="add"> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="collections" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="bibliography-action-panel" class="bibliography-action-panel action-panel in-progress-dots-panel" aria-hidden="true" data-bibliography-open-panel-enabled="false" data-bibliography-open-panel-url-hash="#open-bibliography-panel"> <div class="inner-wrap"> <h3 class="action-panel-heading"> Add to My Bibliography </h3> <form id="bibliography-action-panel-form" class="bibliography-action-panel-form action-panel-content action-form action-panel-smaller-selectors" data-add-to-bibliography-max-amount="100" data-add-to-bibliography-batch-size="10" data-bibliography-delegates-url="/list-bibliography-delegates/" data-add-to-bibliography-url="/add-to-bibliography/" data-get-article-ids-by-search-url="/get-article-ids-by-search/" data-mybib-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/"> <input type="hidden" name="csrfmiddlewaretoken" value="ZkIY6CMS25TKz5qYzOuOe6cUpl0WgrPbXxN7zTKgqjWQjUucP4i61CZIQzOx1Vos"> <div class="action-panel-control-wrap bibliographies-controls"> <div class="choice-group"> <ul class="bibliographies-action-add radio-group-items"> <li> <input name="bibliography" id="my-bibliography" class="my-bibliography" type="radio" checked/> <label for="my-bibliography">My Bibliography</label> </li> </ul> </div> </div> <div class="bibliographies-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your delegates due to an error<br> <a href="#">Please try again</a> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore> Add </button> <button class="action-panel-cancel" aria-label="Close 'Add to bibliography' panel" ref="linksrc=close_bibliography_panel" aria-controls="bibliography-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="mybib" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="saved-search-action-panel" class="saved-search-action-panel action-panel " aria-hidden="true" data-saved-search-open-panel-enabled="false" data-saved-search-open-panel-url-hash="#open-saved-search-panel"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your saved search </h2> <form id="saved-search-action-panel-form" class="saved-search-action-panel-form action-panel-content action-form" data-create-saved-search-url="/create-saved-search/" data-try-search-terms-url="/try-search-term/" data-saved-search-root-url="https://www.ncbi.nlm.nih.gov/myncbi/searches/"> <input type="hidden" name="csrfmiddlewaretoken" value="ZkIY6CMS25TKz5qYzOuOe6cUpl0WgrPbXxN7zTKgqjWQjUucP4i61CZIQzOx1Vos"> <div class="action-panel-control-wrap"> <label for="saved-search-name" class="action-panel-label saved-search-name-label required-field-asterisk"> Name of saved search: </label> <input maxlength="200" type="text" name="saved-search-name" id="saved-search-name" class="saved-search-name" value="" required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="action-panel-control-wrap"> <label for="saved-search-term" class="action-panel-label required-field-asterisk"> Search terms: </label> <textarea name="saved-search-term" id="saved-search-term" class="saved-search-term" required></textarea> </div> <div class="test-search-term-wrap"> <a href="#" class="try-search-term">Test search terms</a> </div> <div class="choice-group action-panel-extra-margin-top"> <span class="action-panel-label" id="fieldset-label"> Would you like email updates of new search results? </span> <fieldset id="saved-search-alert" aria-describedby="fieldset-label"> <legend class="usa-sr-only">Saved Search Alert Radio Buttons</legend> <ul class="radio-group-items"> <li> <input type="radio" id="saved-search-alert-yes" class="saved-search-alert-yes" name="saved-search-alert" value="yes" checked> <label for="saved-search-alert-yes" class="action-panel-label">Yes</label> </li> <li> <input aria-label="No radio input" type="radio" id="saved-search-alert-no" class="saved-search-alert-no" name="saved-search-alert" value="no"> <label for="saved-search-alert-no" class="action-panel-label">No</label> </li> </ul> </fieldset> </div> <div class="alert-schedule-wrap"> <div class="action-panel-control-wrap"> <label class="action-panel-label"> Email: </label> <span aria-label="Email address" id="saved-search-email" class="action-panel-label"><span class="action-panel-label-bold"></span> (<a class="myncbi-account-settings" href="https://www.ncbi.nlm.nih.gov/account/settings/">change</a>)</span> </div> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="saved-search-frequency" class="action-panel-label"> Frequency: </label> <select id="saved-search-frequency" class="no-border-panel-selector saved-search-frequency"> <option value="monthly">Monthly</option> <option value="weekly">Weekly</option> <option value="daily">Daily</option> </select> </div> <div class="action-panel-control-wrap saved-search-monthly-additional"> <label for="saved-search-monthly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-monthly-on-day" class="no-border-panel-selector"> <option value="Sunday">The first Sunday</option> <option value="Monday">The first Monday</option> <option value="Tuesday">The first Tuesday</option> <option value="Wednesday">The first Wednesday</option> <option value="Thursday">The first Thursday</option> <option value="Friday">The first Friday</option> <option value="Saturday">The first Saturday</option> <option value="day">The first day</option> <option value="weekday">The first weekday</option> </select> </div> <div class="action-panel-control-wrap saved-search-weekly-additional"> <label for="saved-search-weekly-on-day" class="action-panel-label"> Which day? </label> <select id="saved-search-weekly-on-day" class="no-border-panel-selector saved-search-weekly-on-day"> <option value="Sunday">Sunday</option> <option value="Monday">Monday</option> <option value="Tuesday">Tuesday</option> <option value="Wednesday">Wednesday</option> <option value="Thursday">Thursday</option> <option value="Friday">Friday</option> <option value="Saturday">Saturday</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-report" class="action-panel-label"> Report format: </label> <select id="saved-search-report" class="no-border-panel-selector saved-search-report"> <option value="DocSum">Summary</option> <option value="DocSumText">Summary (text)</option> <option value="Abstract">Abstract</option> <option value="AbstractText">Abstract (text)</option> <option value="MEDLINE">PubMed</option> </select> </div> <div class="action-panel-control-wrap"> <label for="saved-search-amount" class="action-panel-label"> Send at most: </label> <select id="saved-search-amount" class="no-border-panel-selector saved-search-amount"> <option value="1">1 item</option> <option value="5" selected>5 items</option> <option value="10">10 items</option> <option value="20">20 items</option> <option value="50">50 items</option> <option value="100">100 items</option> <option value="200">200 items</option> </select> </div> <div> <input type="checkbox" id="saved-search-send-if-no-result" class="saved-search-send-if-no-result" name="saved-search-send-if-no-result"> <label for="saved-search-send-if-no-result" class="action-panel-label smaller-checkbox"> Send even when there aren't any new results </label> </div> <div class="action-panel-control-wrap option-text-in-email-wrap"> <label for="saved-search-email-text" class="action-panel-label"> Optional text in email: </label> <textarea name="saved-search-email-text" id="saved-search-email-text" class="saved-search-email-text"></textarea> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Saving..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Save </button> <button class="action-panel-cancel" aria-label="Close 'Your saved search' panel" ref="linksrc=close_saved_search_panel" aria-controls="saved-search-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="citation-manager-action-panel" class="citation-manager-action-panel action-panel" aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Create a file for external citation management software </h2> <form id="citation-manager-action-panel-form" class="action-panel-content action-form" action="/results-export-ids/" data-by-search-action="/results-export-search-data/" data-by-ids-action="/results-export-ids/" method="post" data-by-search-method="post" data-by-ids-method="post"> <input type="hidden" name="csrfmiddlewaretoken" value="ZkIY6CMS25TKz5qYzOuOe6cUpl0WgrPbXxN7zTKgqjWQjUucP4i61CZIQzOx1Vos"> <input name="results-format" type="hidden" value="pubmed"/> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Sending..." data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="save"> Create file </button> <button class="action-panel-cancel" aria-label="Close 'Send citations to citation manager' panel" ref="linksrc=close_citation_manager_panel" aria-controls="citation-manager-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="citation_manager" data-ga-label="cancel"> Cancel </button> </div> </form> </div> </div> <div id="rss-action-panel" class="rss-action-panel action-panel " aria-hidden="true"> <div class="inner-wrap"> <h2 class="action-panel-heading"> Your RSS Feed </h2> <form id="rss-action-panel-form" class="rss-action-panel-form action-panel-content action-form" data-create-rss-feed-url="/create-rss-feed-url/" data-search-form-term-value=""> <input type="hidden" name="csrfmiddlewaretoken" value="ZkIY6CMS25TKz5qYzOuOe6cUpl0WgrPbXxN7zTKgqjWQjUucP4i61CZIQzOx1Vos"> <div class="action-panel-control-wrap"> <label for="rss-name" class="action-panel-label required-field-asterisk"> Name of RSS Feed: </label> <input maxlength="200" placeholder="Name" type="text" name="rss-name" id="rss-name" class="rss-name" value='' required pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/"> </div> <div class="rss-limit-wrap"> <div class="action-panel-control-wrap action-panel-extra-margin-top"> <label for="rss-limit" class="action-panel-label"> Number of items displayed: </label> <select id="rss-limit" class="no-border-panel-selector rss-limit"> <option value="5">5</option> <option value="10">10</option> <option value="15" selected="selected">15</option> <option value="20">20</option> <option value="50">50</option> <option value="100">100</option> </select> </div> </div> <div class="action-panel-actions"> <button class="action-panel-submit" type="submit" data-loading-label="Creating..." data-ga-category="save_share" data-ga-action="alert" data-ga-label="save"> Create RSS </button> <button class="action-panel-cancel" aria-label="Close 'Your RSS' panel" ref="linksrc=close_rss_panel" aria-controls="rss-action-panel" aria-expanded="false" data-ga-category="save_share" data-ga-action="alert" data-ga-label="cancel"> Cancel </button> </div> <div class="action-panel-control-wrap rss-link-copy-wrap"> <label for="rss-link" class="usa-sr-only">RSS Link</label> <input placeholder="Your RSS Feed Link" type="text" name="rss-link" id="rss-link" class="rss-link" title="RSS Link"> <button type="button" disabled class="rss-link-copy-button disabled" data-ga-category="save_share" data-ga-action="rss" data-ga-label="copy"> Copy </button> </div> </form> </div> </div> </div> </div> <div class="article-page" id="article-page" data-article-pmid="21473986"> <aside class="page-sidebar"> <div class="inner-wrap"> <div class="full-text-links"> <div class="full-view"> <h3 class="title"> Full text links </h3> <div class="full-text-links-list"> <a class="link-item dialog-focus" 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name="csrfmiddlewaretoken" value="ZkIY6CMS25TKz5qYzOuOe6cUpl0WgrPbXxN7zTKgqjWQjUucP4i61CZIQzOx1Vos"><div class="choice-group" role="radiogroup"><ul class="radio-group-items"><li><input type="radio" id="collections-action-dialog-new" class="collections-new" name="collections" value="new" data-ga-category="collections_button" data-ga-action="click" data-ga-label="collections_radio_new"><label for="collections-action-dialog-new">Create a new collection</label></li><li><input type="radio" id="collections-action-dialog-existing" class="collections-existing" name="collections" value="existing" checked="true" data-ga-category="collections_button" data-ga-action="click" data-ga-label="collections_radio_existing"><label for="collections-action-dialog-existing">Add to an existing collection</label></li></ul></div><div class="controls-wrapper"><div class="action-panel-control-wrap new-collections-controls"><label for="collections-action-dialog-add-to-new" class="action-panel-label required-field-asterisk"> Name your collection: </label><input type="text" name="add-to-new-collection" id="collections-action-dialog-add-to-new" class="collections-action-add-to-new" pattern="[^"&=<>\/]*" title="The following characters are not allowed in the Name field: "&=<>/" maxlength="100" data-ga-category="collections_button" data-ga-action="create_collection" data-ga-label="non_favorties_collection"><div class="collections-new-name-too-long usa-input-error-message selection-validation-message"> Name must be less than 100 characters </div></div><div class="action-panel-control-wrap existing-collections-controls"><label for="collections-action-dialog-add-to-existing" class="action-panel-label"> Choose a collection: </label><select id="collections-action-dialog-add-to-existing" class="action-panel-selector collections-action-add-to-existing" data-ga-category="collections_button" data-ga-action="select_collection" data-ga-label="($('.collections-action-add-to-existing').val() === 'Favorites') ? 'Favorites' : 'non_favorites_collection'"></select><div class="collections-retry-load-on-error usa-input-error-message selection-validation-message"> Unable to load your collection due to an error<br><a href="#">Please try again</a></div></div></div><div class="action-panel-actions"><button class="action-panel-submit" type="submit" data-loading-label="Adding..." data-pinger-ignore data-ga-category="collections_button" data-ga-action="click" data-ga-label="add"> Add </button><button class="action-panel-cancel" aria-label="Close 'Add to Collections' panel" ref="linksrc=close_collections_panel" aria-controls="collections-action-panel" aria-expanded="false" data-ga-category="collections_button" data-ga-action="click" data-ga-label="cancel"> Cancel </button></div></form></div></div></div></div><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" 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data-pinger-ignore> Am J Hum Genet </button><div id="full-view-journal" class="journal-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for journal American journal of human genetics"><div class="title">Actions</div><div class="content"><ul class="journal-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Am+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc" data-href="/?term=%22Am+J+Hum+Genet%22%5Bjour%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_journal_name_link&journal_abbrev=Am J Hum Genet" data-ga-category="search" data-ga-action="journal_link" data-ga-label="Am J Hum Genet"> Search in PubMed </a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link" ref ="linksrc=search_in_nlm_catalog_link" href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Am+J+Hum+Genet%22%5BTitle+Abbreviation%5D" data-ga-category="search_catalog" data-ga-action="journal_link" data-ga-label="Am J Hum Genet"> Search in NLM Catalog </a></li><li><a class="add-to-search-link dropdown-block-link" ref ="linksrc=add_to_search_link" role="button" data-search-term='"Am J Hum Genet"[jour]' data-ga-category="search" data-ga-action="add_to_search" data-ga-label='"Am J Hum Genet"[jour]' href="#"> Add to Search </a></li></ul></div></div></div><span class="period">. </span><span class="cit">2011 Apr 8;88(4):508-15.</span> </div> <span class="citation-doi"> doi: 10.1016/j.ajhg.2011.03.015. </span> </div> <h1 class="heading-title"> Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis </h1> <div class="inline-authors"> <div class="authors"> <div class="authors-list"> <span class="authors-list-item "><a class="full-name" href="/?term=Mill+P&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Pleasantine Mill">Pleasantine Mill</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK. pleasantine.mill@hgu.mrc.ac.uk" href="#full-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lockhart+PJ&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Paul J Lockhart">Paul J Lockhart</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Fitzpatrick+E&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Elizabeth Fitzpatrick">Elizabeth Fitzpatrick</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mountford+HS&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Hayley S Mountford">Hayley S Mountford</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hall+EA&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Emma A Hall">Emma A Hall</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Reijns+MA&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Martin A M Reijns">Martin A M Reijns</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Keighren+M&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Margaret Keighren">Margaret Keighren</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bahlo+M&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Melanie Bahlo">Melanie Bahlo</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bromhead+CJ&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Catherine J Bromhead">Catherine J Bromhead</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Budd+P&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Peter Budd">Peter Budd</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Aftimos+S&cauthor_id=21473986" ref="linksrc=author_name_link" 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2XU, UK. pleasantine.mill@hgu.mrc.ac.uk</li> </ul> </div> </div> </div> <ul class="identifiers" id="full-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">21473986</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=PMC3071922&id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC3071922/" data-ga-category="full_text" data-ga-action="PMCID" > PMC3071922 </a> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=10.1016/j.ajhg.2011.03.015&id_type=DOI" href="https://doi.org/10.1016/j.ajhg.2011.03.015" data-ga-category="full_text" data-ga-action="DOI" > 10.1016/j.ajhg.2011.03.015 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> <div class="short-view" id="short-view-heading"> <h1 class="heading-title"> Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis </h1> <div class="short-citation"> <span class="authors-list"> <span class="authors-list-item "><span class="full-name">Pleasantine Mill</span><span class="citation-separator"> et al.</span></span> </span> <span class="citation-journal"> Am J Hum Genet<span class="citation-separator">.</span> </span> <span class="date"> <time class="citation-year" datetime="2011">2011</time><span class="citation-separator">.</span> </span> </div> <div class="more-article-details-section with-display-settings"> <button class="more-article-details" id="toggle-article-details" data-alt-text="Hide details" ref="linksrc=toggle_article_details" aria-controls="full-article-details" aria-expanded="false" data-fetch-url="/21473986/long-authors/" data-id-prefix=""> <span class="title">Show 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</a></li><li><a class="search-in-nlm-catalog-link dropdown-block-link" ref ="linksrc=search_in_nlm_catalog_link" href="https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Am+J+Hum+Genet%22%5BTitle+Abbreviation%5D" data-ga-category="search_catalog" data-ga-action="journal_link" data-ga-label="Am J Hum Genet"> Search in NLM Catalog </a></li><li><a class="add-to-search-link dropdown-block-link" ref ="linksrc=add_to_search_link" role="button" data-search-term='"Am J Hum Genet"[jour]' data-ga-category="search" data-ga-action="add_to_search" data-ga-label='"Am J Hum Genet"[jour]' href="#"> Add to Search </a></li></ul></div></div></div><span class="period">. </span><span class="cit">2011 Apr 8;88(4):508-15.</span> </div> <span class="citation-doi"> doi: 10.1016/j.ajhg.2011.03.015. </span> </div> <div class="expanded-authors" id="short-view-expanded-authors"> <div class="authors"> <h3 class="title"> Authors </h3> <div class="authors-list"> <span class="authors-list-item "><a class="full-name" href="/?term=Mill+P&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Pleasantine Mill">Pleasantine Mill</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK. pleasantine.mill@hgu.mrc.ac.uk" href="#short-view-affiliation-1" ref="linksrc=author_aff"> 1 </a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Lockhart+PJ&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Paul J Lockhart">Paul J Lockhart</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Fitzpatrick+E&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Elizabeth Fitzpatrick">Elizabeth Fitzpatrick</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Mountford+HS&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Hayley S Mountford">Hayley S Mountford</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Hall+EA&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Emma A Hall">Emma A Hall</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Reijns+MA&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Martin A M Reijns">Martin A M Reijns</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Keighren+M&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Margaret Keighren">Margaret Keighren</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bahlo+M&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Melanie Bahlo">Melanie Bahlo</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Bromhead+CJ&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Catherine J Bromhead">Catherine J Bromhead</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Budd+P&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Peter Budd">Peter Budd</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Aftimos+S&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Salim Aftimos">Salim Aftimos</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Delatycki+MB&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Martin B Delatycki">Martin B Delatycki</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Savarirayan+R&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ravi Savarirayan">Ravi Savarirayan</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Jackson+IJ&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="Ian J Jackson">Ian J Jackson</a><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name" href="/?term=Amor+DJ&cauthor_id=21473986" ref="linksrc=author_name_link" data-ga-category="search" data-ga-action="author_link" data-ga-label="David J Amor">David J Amor</a></span> </div> </div> <div class="affiliations"> <h3 class="title"> Affiliation </h3> <ul class="item-list"> <li data-affiliation-id="short-view-affiliation-1" id="short-view-affiliation-1" ><sup class="key">1</sup> Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK. pleasantine.mill@hgu.mrc.ac.uk</li> </ul> </div> </div> <ul class="identifiers" id="short-view-identifiers"> <li> <span class="identifier pubmed"> <span class="id-label"> PMID: </span> <strong class="current-id" title="PubMed ID">21473986</strong> </span> </li> <li> <span class="identifier pmc"> <span class="id-label"> PMCID: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=PMC3071922&id_type=PMC" href="https://pmc.ncbi.nlm.nih.gov/articles/PMC3071922/" data-ga-category="full_text" data-ga-action="PMCID" > PMC3071922 </a> </span> </li> <li> <span class="identifier doi"> <span class="id-label"> DOI: </span> <a class="id-link" target="_blank" rel="noopener" ref="linksrc=article_id_link&article_id=10.1016/j.ajhg.2011.03.015&id_type=DOI" href="https://doi.org/10.1016/j.ajhg.2011.03.015" data-ga-category="full_text" data-ga-action="DOI" > 10.1016/j.ajhg.2011.03.015 </a> </span> </li> </ul> <div class="in-clipboard-label " hidden> Item in Clipboard </div> </div> </div> </header> <div class="actions-buttons inline"><div class="inner-wrap"><button class="full-text-links-button full-text-links-dialog-trigger" title="Open dialog with full text links" ref="linksrc=full_text_links"> Full text links </button><button class="citation-button citation-dialog-trigger" aria-label="Open dialog with citation text in different styles" data-ga-category="save_share" data-ga-action="cite" data-ga-label="open" data-all-citations-url="/21473986/citations/" data-citation-style="nlm" data-pubmed-format-link="/21473986/export/"><span class="button-label">Cite</span></button><button class="more-actions-button more-actions-dialog-trigger" title="Open dialog with more actions to take" ref="linksrc=more_actions_btn"></button><div class="display-options" data-format-key="format" data-default-format-value="abstract" data-current-format-value="abstract" role="region"><button class="trigger usa-button" title="Change format" data-ga-category="display_options" data-ga-action="display_options_dialog"><span class="button-label">Display options</span></button><div class="dropdown" hidden><div class="title"> Display options </div><div class="content"><div class="format-container"><span class="option-label"> Format </span><select name="format" data-initial-value="abstract" aria-label="Display format" id="inline-actions-display-format"><option value="abstract">Abstract</option><option value="pubmed">PubMed</option><option value="pmid">PMID</option></select></div></div></div></div></div></div> <div class="abstract" id="abstract"> <h2 class="title"> Abstract </h2> <div class="abstract-content selected" id="eng-abstract"> <p> Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are valuable for dissecting the function of these genes, as well as for more detailed analysis of the underlying developmental defects. The short-rib polydactyly (SRP) group of disorders are among the most severe human phenotypes caused by cilia dysfunction. We mapped the disease locus from two siblings affected by a severe form of SRP to 2p24, where we identified an in-frame homozygous deletion of exon 5 in WDR35. We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SRP phenotype. In a mouse mutation screen for developmental phenotypes, we identified a mutation in Wdr35 as the cause of midgestation lethality, with abnormalities characteristic of defects in the Hedgehog signaling pathway. We show that endogenous WDR35 localizes to cilia and centrosomes throughout the developing embryo and that human and mouse fibroblasts lacking the protein fail to produce cilia. Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that human SRP mutations affect key structural elements in WDR35. Our report expands, and sheds new light on, the pathogenesis of the SRP spectrum of ciliopathies. </p> </div> </div> <p class="copyright" id="copyright"> Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. </p> <p class="disclaimer" id="disclaimer"> <a href="/disclaimer/" target="_blank" ga_category="literature_resources" ga_action="disclaimer_link" ga_label="under_abstract">PubMed Disclaimer</a> </p> <div class="figures" id="figures"> <h2 class="title"> Figures </h2> <div class="figures-list" id="slides-container" itemscope itemtype="http://schema.org/ImageGallery"> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="0" data-label-slug="figure-1"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2736/3071922/6a128b06c49b/gr1.jpg" itemprop="contentUrl" aria-describedby="figure-caption-0" role="button" data-image-width="754" data-image-height="951" data-image-alt="Figure 1" data-pmc-id="PMC3071922" data-figure-id="fig1"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-0" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2736/3071922/0491cccb7ebb/gr1.gif" alt="Figure 1" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="754"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="951"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 1 </p> </strong> <div class="figure-caption-contents"><i> WDR35 </i> Is Mutated in Atypical…</div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 1 </p> </strong> <div class="figure-caption-contents"><i> WDR35 </i> Is Mutated in Atypical Short-Rib Polydactyly Syndrome in Humans and in the…</div> </div> <figcaption id="figure-caption-0" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 1 </strong> <div class="figure-caption-contents"><i>WDR35</i> Is Mutated in Atypical Short-Rib Polydactyly Syndrome in Humans and in the <i>yeti</i> Mutant Mouse (A and B) Characteristic postaxial polydactyly, extreme micromelia, and short ribs (A) as presented in postmortem survey of 13 week conceptus (SRP-3-1) (B). (C) Genomic PCR spanning exons 4, 5, or 6 of <i>WDR35</i> from DNA of parents (SRP-1-1, SRP-1-2) or affected concepti (SRP-1-4, SRP-1-6). Deletion of a 2847 bp genomic fragment (2:20177392-20180238, assembly GRCh37) results in the loss of exon 5 in homozygous individuals. Reaction products for the control (C1) and no template (-ve) are shown. (D) RT-PCR amplification of <i>WDR35</i> spanning exons 4–6 from affected concepti (SRP-1-4, SRP-1-6) and control fibroblasts (C1, C2). (E) Schematic of the predicted domain organization of two coding human <i>WDR35</i> transcripts, with or without exon 11 (violet). The location of the WDR35 mutations in SRP-1 (blue; homozygous SRPΔ5) and SRP-3 (p.Trp261Arg and p.Arg545X) -affected concepti are shown. The splice acceptor mutation at the intron 21-exon 22 junction in <i>yeti</i> mice is indicated (<sup>∗</sup>). (F–K) Gross embryonic phenotypes of wild-type (F–H) compared to <i>yeti</i> mutant littermates (I–K). Embryonic day 12.5 (E12.5) forelimb (F, I) and hindlimb (G, J) defects in <i>yeti</i> mouse mutants include impaired outgrowth along the proximal-distal axis and polysyndactyly. (H, K) E11.5 transverse hematoxylin- and eosin-stained sections of the <i>Wdr35<sup>yet/yet</sup></i> thoracic cavity show failure of the somite derivatives, such as the sclerotome (sc) derivatives (ri, ribs; ve, vertebra), to migrate out from the midline in mutants and tracheoesophageal fistula with hypoplastic lungs (asterisk). (L) RT-PCR amplification of a <i>Wdr35</i> fragment covering exons 21–24 shows the presence of aberrantly spliced of transcripts in the <i>yeti</i> mutant (white arrowheads) compared to wild-type (black arrowhead). (M) Whole-mount in situ hybridization of <i>Wdr35</i> in E10.5 wild-type and <i>yeti</i> littermates shows nonsense-mediated decay of mRNA in mutant embryos.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="1" data-label-slug="figure-2"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2736/3071922/6911656cbbf6/gr2.jpg" itemprop="contentUrl" aria-describedby="figure-caption-1" role="button" data-image-width="600" data-image-height="993" data-image-alt="Figure 2" data-pmc-id="PMC3071922" data-figure-id="fig2"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-1" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2736/3071922/643aaccb8f55/gr2.gif" alt="Figure 2" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="600"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="993"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 2 </p> </strong> <div class="figure-caption-contents"><i> Wdr35 </i> Localizes to Cilia and…</div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 2 </p> </strong> <div class="figure-caption-contents"><i> Wdr35 </i> Localizes to Cilia and Is Required for Ciliogenesis (A and B) NIH-3T3…</div> </div> <figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 2 </strong> <div class="figure-caption-contents"><i>Wdr35</i> Localizes to Cilia and Is Required for Ciliogenesis (A and B) NIH-3T3 (A) or IMCD3 (B) cells were microporated with full-length mouse <i>Wdr35::GFP</i> and serum starved for 36 hr before costaining with antibodies directed against γ-tubulin (A) or acetylated α-tubulin (red; B). Nuclei are stained with DAPI (blue). Magnification of regions of interest are shown in singl-channel images indicating colocalization. (C and D) IMCD3 cells were serum starved for 36 hr before costaining with antibodies directed against acetylated α-tubulin (green) and Wdr35 (red; C, 085 antibody; D, 02 antibody). Nuclei are stained with DAPI (blue). (E and F) Wild-type 13.5 dpc mouse kidney (E) and choroid plexus (F) sections were costained with antibodies directed against acetylated α-tubulin (green) and Wdr35 (red, 085 antibody). Nuclei are stained with TOTO-3 (blue). Primary cilia in the mesenchyme (E) and ciliated epithelia lining lumen (F) are indicated. (G and H) Shown are 0.4 μm confocal images of section immunohistochemistry of 11.5 dpc limb-bud mesenchyme from wild-type (G) and <i>Wdr35<sup>yet/yet</sup></i> (H) embryos stained with antibodies directed against acetylated α-tubulin (green), Wdr35 (085 antibody: red), and TOTO-3 (blue). See also Figure S3E for additional support, by immunoblot analysis, that <i>yeti</i> is a null allele of Wdr35. See also Figure 4 for preadsorbtion with peptide for demonstration of the specificity of antibody studies. (I and J) Primary fibroblast cells from a control (I) or <i>WDR35<sup>Δ5/Δ5</sup></i> SRP patient (J) were serum starved for 36–48 hr before costaining with antibodies directed against WDR35 (green, 02 antibody) and γ-tubulin (red). Fainter, nonspecific staining of cytoplasmic microtubules by γ-tubulin is observed in human control and mutant fibroblasts. Nuclei are stained with DAPI (blue). (K and L) <i>Wdr35</i> siRNA knockdown leads to reduced cilia formation. ShhLIGHT II cells were transfected with siRNAs against <i>Wdr35</i>. qRT-PCR shows significantly reduced levels of <i>Wdr35</i> mRNA after siRNA treatment (K). A 50% reduction in the number of ciliated cells was observed when <i>Wdr35</i> mRNA was knocked down to 15% of wild-type levels (L). Negative: scramble siRNA; <sup>∗∗∗</sup>p < 0.001; <sup>∗∗</sup>p < 0.01 (Chi-squared). Bars represent standard deviations. Statistical significance was determined via a Student's t test.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="2" data-label-slug="figure-3"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2736/3071922/fd122d3e91c5/gr3.jpg" itemprop="contentUrl" aria-describedby="figure-caption-2" role="button" data-image-width="562" data-image-height="895" data-image-alt="Figure 3" data-pmc-id="PMC3071922" data-figure-id="fig3"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-2" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2736/3071922/8e8de10d2530/gr3.gif" alt="Figure 3" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="562"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="895"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 3 </p> </strong> <div class="figure-caption-contents"><i> Wdr35 </i> Is Required for Mammalian…</div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 3 </p> </strong> <div class="figure-caption-contents"><i> Wdr35 </i> Is Required for Mammalian Ciliogenesis (A–D) Primary fibroblast cells from a control…</div> </div> <figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 3 </strong> <div class="figure-caption-contents"><i>Wdr35</i> Is Required for Mammalian Ciliogenesis (A–D) Primary fibroblast cells from a control (A and B) or <i>WDR35<sup>Δ5/Δ5</sup></i> SRP patient (C and D) were serum starved for 36–48 hr before costaining with antibodies directed against IFT88 (green) and acetylated α-tubulin (red) (A and C) or IFT88 (green) and γ-tubulin (red) (B and D). Nuclei are stained with DAPI (blue). Inserts show higher magnification of individual cilia in merged or single channels. (E–H) Primary mouse embryonic fibroblasts derived from 11.5 dpc control <i>Wdr35<sup>+/+</sup></i> (E and F) or <i>Wdr35<sup>yet/yet</sup></i> mutants (G and H) were cultured and serum starved and then costained with antibodies directed against γ-tubulin (green) and acetylated α-tubulin (red) (E and G) or IFT88 (green) and γ-tubulin (red) (F and H). Nuclei are stained with DAPI (blue). Inserts show high magnification of individual cilia in merged or single channels. Scale bar represents 10 μm.</div> </figcaption> </figure> <figure class="figure-item " itemscope itemtype="http://schema.org/ImageObject" itemprop="associatedMedia" data-slide-index="3" data-label-slug="figure-4"> <a class="figure-link" href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2736/3071922/c3ac6b7636fc/gr4.jpg" itemprop="contentUrl" aria-describedby="figure-caption-3" role="button" data-image-width="599" data-image-height="323" data-image-alt="Figure 4" data-pmc-id="PMC3071922" data-figure-id="fig4"> <img class="figure-thumb" itemprop="thumbnail" id="article-image-3" src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2736/3071922/25559c6e1b99/gr4.gif" alt="Figure 4" /> </a> <meta itemprop="width" itemtype="http://schema.org/ImageObject" content="599"> <meta itemprop="height" itemtype="http://schema.org/ImageObject" content="323"> <div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true"> <div class="caption-wrap"> <strong class="figure-label"> <p> Figure 4 </p> </strong> <div class="figure-caption-contents"><p> Structural Similarities between WDR35 and… </p></div> </div> </div> <div class="figure-caption-medium figure-caption-text" aria-hidden="true"> <strong class="figure-label"> <p> Figure 4 </p> </strong> <div class="figure-caption-contents"><p> Structural Similarities between WDR35 and the Canonical COPI Coat Complex Suggest Conserved Functional… </p></div> </div> <figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description"> <strong class="figure-label"> Figure 4 </strong> <div class="figure-caption-contents">Structural Similarities between WDR35 and the Canonical COPI Coat Complex Suggest Conserved Functional Importance of the N-Terminal WD40-like β-Propeller (A) Amino acid sequence alignment of WDR35 sequence at W261 (yellow) demonstrates complete conservation of the tryptophan residue. WDR35 sequences are from <i>Homo sapiens</i> (ENST00000345530), <i>Mus musculus</i> (ENSMUST00000085745), <i>Danio rerio</i> (XP_693887.2), <i>Ciona intestinalis</i> (ENSCINT0000018168), <i>Chlamydomonas reinhardtii</i> (XP_001702021), <i>Drosophila melanogaster</i> (FBtr0072797), and <i>Caenorhabditis elegans</i> (C54G7.4). (B and C) (B) Ribbon diagram of <i>S. cerevisiae</i> β′−COP (PDB ID: 3mkqA) from the crystal structure and the predicted architecture of human WDR35 (residues 6–933) based on homology modeling with the use of the yeast β′-COP structure as a template (C). For details of the protein structure modeling, see Figure S6. Starting from its N terminus (N), WDR35 is predicted to have two seven-bladed β-propeller domains (viewed side-on in the presented orientation) followed by an α-solenoid domain composed of the TPR-like repeat α helices. SRPΔ5 mutants are predicted to lose one full blade (cyan) of the N-terminal β-propeller domain. The p.Trp261Arg mutation affects a key tryptophan residue (yellow sphere) on the axial face of this same β-propeller in conceptus SRP-3-1. β strands are shown as blue arrows and α helices as red ribbons. Sensenbrenner missense mutations p.Glu626Gly and p.Ala875Thr, highlighted in yellow, affect residues outside this domain. (D) Ribbon diagram of the proposed structural model for the N-terminal seven-bladed WD40-like β-propeller (residues 6–330) of human WDR35, with β strands shown in blue and the α-helix in red. Seven key tryptophan residues that are central to the WD-like repeats are shown as purple sticks; p.Trp261Arg is located in blade 6 and is shown as yellow sticks. Deletion of <i>WDR35Δ5</i> leads to an in-frame deletion of four offset β strands (2d–3c: cyan) resulting in the loss of a full blade of the β-propeller. Amino and carboxy-termini are labeled with N and C, respectively. Blades of the propeller are numbered according to the secondary structure alignment in Figure S6.</div> </figcaption> </figure> </div>  <div class="pswp figures-dialog" id="figures-dialog" tabindex="-1" role="dialog" aria-hidden="true" data-image-gallery-uid="article-figures" aria-label="Figures Dialog">  <div class="pswp__bg"></div>  <div class="pswp__scroll-wrap">  <div class="pswp__container"> <div class="pswp__item"></div> <div class="pswp__item"></div> <div class="pswp__item"></div> </div>  <div class="pswp__ui pswp__ui--hidden"> <div class="pswp__top-bar">  <div class="pswp__counter"></div> <button class="pswp__button pswp__button--close" title="Close (Esc)"></button> <button class="pswp__button pswp__button--share" title="Share"></button> <button class="pswp__button pswp__button--fs" title="Toggle fullscreen"></button> <button class="pswp__button pswp__button--zoom" title="Zoom in/out"></button>   <div class="pswp__preloader"> <div class="pswp__preloader__icn"> <div class="pswp__preloader__cut"> <div class="pswp__preloader__donut"></div> </div> </div> </div> </div> <div class="pswp__share-modal pswp__share-modal--hidden pswp__single-tap"> <div class="pswp__share-tooltip"></div> </div> <button class="pswp__button pswp__button--arrow--left" title="Previous (arrow left)"> </button> <button class="pswp__button pswp__button--arrow--right" title="Next (arrow right)"> </button> <div class="pswp__caption"> <div class="pswp__caption__center"></div> </div> </div> </div> </div> <div class="figure-dialog-caption"> <div class="figure-caption-link-container"> <a class="figure-caption-link" href="#">See this image and copyright information in PMC</a> </div> <div class="figure-caption-center" data-expand-title="click to show full caption" data-collapse-title="click to hide full caption"> </div> <button class="figure-caption-toggle-btn" aria-label="show full caption" data-expand-text="show full caption" data-collapse-text="hide full caption">  </button> </div> </div> <div class="similar-articles" id="similar"> <h2 class="title"> Similar articles </h2> <ul class="articles-list" id="similar-articles-list"> <li class="full-docsum"> <div class="docsum-content" style="display:inline;"> <a class="docsum-title" href="/24183449/" ref="article_id=24183449&linksrc=similar_articles_link&ordinalpos=1" data-ga-category="similar_article" data-ga-action="24183449" data-ga-label=""> WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. </a> <div class="docsum-citation full-citation"> <span class="docsum-authors full-authors">Huber C, Wu S, Kim AS, Sigaudy S, Sarukhanov A, Serre V, Baujat G, Le Quan Sang KH, Rimoin DL, Cohn DH, Munnich A, Krakow D, Cormier-Daire V.</span> <span class="docsum-authors short-authors">Huber C, et al.</span> <span class="docsum-journal-citation full-journal-citation">Am J Hum Genet. 2013 Nov 7;93(5):926-31. doi: 10.1016/j.ajhg.2013.10.007. 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keyword Coat Protein Complex I / genetics" tabindex="0" aria-controls="keyword-actions-mesh-terms-6" aria-expanded="false" data-pinger-ignore> Coat Protein Complex I / genetics </button><div id="keyword-actions-mesh-terms-6" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Coat Protein Complex I / genetics"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Coat+Protein+Complex+I%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Coat+Protein+Complex+I%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Coat Protein Complex I/genetics"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Coat Protein Complex I / genetics"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Coat+Protein+Complex+I" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Coat Protein Complex I / genetics"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Coat Protein Complex I/genetics"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Coat Protein Complex I/genetics"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Codon, Nonsense" tabindex="0" aria-controls="keyword-actions-mesh-terms-7" aria-expanded="false" data-pinger-ignore> Codon, Nonsense </button><div id="keyword-actions-mesh-terms-7" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown 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genetics"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Embryonic Development/genetics"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Embryonic Development/genetics"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Female" tabindex="0" aria-controls="keyword-actions-mesh-terms-10" aria-expanded="false" data-pinger-ignore> Female </button><div id="keyword-actions-mesh-terms-10" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Female"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Female"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Female" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Female"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Female"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Female"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Hedgehog Proteins" tabindex="0" aria-controls="keyword-actions-mesh-terms-11" aria-expanded="false" data-pinger-ignore> Hedgehog Proteins </button><div id="keyword-actions-mesh-terms-11" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Hedgehog Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Hedgehog+Proteins%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Hedgehog+Proteins%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Hedgehog Proteins"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Hedgehog Proteins"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Hedgehog+Proteins" data-ga-category="search_mesh" 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href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Humans"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Humans"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Humans" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Humans"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Humans"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Humans"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Intracellular Signaling Peptides and Proteins" tabindex="0" aria-controls="keyword-actions-mesh-terms-15" aria-expanded="false" data-pinger-ignore> Intracellular Signaling Peptides and Proteins </button><div id="keyword-actions-mesh-terms-15" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Intracellular Signaling Peptides and Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Intracellular+Signaling+Peptides+and+Proteins%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Intracellular+Signaling+Peptides+and+Proteins%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Intracellular Signaling Peptides and Proteins"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Intracellular Signaling Peptides and Proteins"> Search in PubMed </a></li><li><a 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class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Male"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Male"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Male" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Male"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Male"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" 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dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Mice" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Mice"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Mice"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Mice"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Mice, Mutant Strains" tabindex="0" aria-controls="keyword-actions-mesh-terms-18" aria-expanded="false" data-pinger-ignore> Mice, Mutant Strains </button><div id="keyword-actions-mesh-terms-18" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Mice, Mutant Strains"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Mice%2C+Mutant+Strains%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Mice%2C+Mutant+Strains%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Mice, Mutant Strains"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Mice, Mutant Strains"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Mice%2C+Mutant+Strains" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Mice, Mutant Strains"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Mice, Mutant Strains"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Mice, Mutant Strains"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Models, Molecular" tabindex="0" aria-controls="keyword-actions-mesh-terms-19" aria-expanded="false" data-pinger-ignore> Models, Molecular </button><div id="keyword-actions-mesh-terms-19" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Models, Molecular"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Models%2C+Molecular%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Models%2C+Molecular%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Models, Molecular"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" 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ref="linksrc=add_to_search_link" role="button" data-search-term=""Molecular Sequence Data"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Molecular Sequence Data"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Mutant Proteins / chemistry" tabindex="0" aria-controls="keyword-actions-mesh-terms-21" aria-expanded="false" data-pinger-ignore> Mutant Proteins / chemistry </button><div id="keyword-actions-mesh-terms-21" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Mutant Proteins / chemistry"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Mutant+Proteins%2Fchemistry%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Mutant+Proteins%2Fchemistry%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutant Proteins/chemistry"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Mutant Proteins / chemistry"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutant+Proteins" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Mutant Proteins / chemistry"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Mutant Proteins/chemistry"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Mutant Proteins/chemistry"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger 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ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutant+Proteins" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Mutant Proteins / genetics"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Mutant Proteins/genetics"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Mutant Proteins/genetics"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major" aria-label="Toggle dropdown menu for keyword Mutation*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-23" aria-expanded="false" data-pinger-ignore> Mutation* </button><div id="keyword-actions-mesh-terms-major-23" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Mutation*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Mutation%22%5BMAJR%5D&sort=date&sort_order=desc" data-href="/?term=%22Mutation%22%5BMAJR%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation"[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Mutation*"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Mutation" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Mutation*"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Mutation"[MAJR]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Mutation"[MAJR]" href="#"> Add to Search 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class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Proteins%2Fchemistry%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Proteins%2Fchemistry%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Proteins/chemistry"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Proteins / chemistry"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Proteins" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Proteins / chemistry"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Proteins/chemistry"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Proteins/chemistry"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major" aria-label="Toggle dropdown menu for keyword Proteins / genetics*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-28" aria-expanded="false" data-pinger-ignore> Proteins / genetics* </button><div id="keyword-actions-mesh-terms-major-28" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Proteins / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Proteins%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" data-href="/?term=%22Proteins%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Proteins/genetics"[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Proteins / genetics*"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Proteins" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Proteins / genetics*"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Proteins/genetics"[MAJR]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Proteins/genetics"[MAJR]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Sequence Deletion" tabindex="0" aria-controls="keyword-actions-mesh-terms-29" aria-expanded="false" data-pinger-ignore> Sequence Deletion </button><div id="keyword-actions-mesh-terms-29" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Sequence Deletion"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Sequence+Deletion%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Sequence+Deletion%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Sequence Deletion"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Sequence Deletion"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Sequence+Deletion" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Sequence Deletion"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Sequence Deletion"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Sequence Deletion"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Sequence Homology, Amino Acid" tabindex="0" aria-controls="keyword-actions-mesh-terms-30" aria-expanded="false" data-pinger-ignore> Sequence Homology, Amino Acid </button><div id="keyword-actions-mesh-terms-30" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Sequence Homology, Amino Acid"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Sequence+Homology%2C+Amino+Acid%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Sequence+Homology%2C+Amino+Acid%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Sequence Homology, Amino Acid"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Sequence Homology, Amino Acid"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Sequence+Homology%2C+Amino+Acid" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Sequence Homology, Amino Acid"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Sequence Homology, Amino Acid"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Sequence Homology, Amino Acid"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Short Rib-Polydactyly Syndrome / embryology" tabindex="0" aria-controls="keyword-actions-mesh-terms-31" aria-expanded="false" data-pinger-ignore> Short Rib-Polydactyly Syndrome / embryology </button><div id="keyword-actions-mesh-terms-31" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Short Rib-Polydactyly Syndrome / embryology"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Short+Rib-Polydactyly+Syndrome%2Fembryology%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Short+Rib-Polydactyly+Syndrome%2Fembryology%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Short Rib-Polydactyly Syndrome/embryology"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Short Rib-Polydactyly Syndrome / embryology"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Short+Rib-Polydactyly+Syndrome" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Short Rib-Polydactyly Syndrome / embryology"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Short Rib-Polydactyly Syndrome/embryology"[MeSH]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Short Rib-Polydactyly Syndrome/embryology"[MeSH]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link major" aria-label="Toggle dropdown menu for keyword Short Rib-Polydactyly Syndrome / genetics*" tabindex="0" aria-controls="keyword-actions-mesh-terms-major-32" aria-expanded="false" data-pinger-ignore> Short Rib-Polydactyly Syndrome / genetics* </button><div id="keyword-actions-mesh-terms-major-32" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Short Rib-Polydactyly Syndrome / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Short+Rib-Polydactyly+Syndrome%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" data-href="/?term=%22Short+Rib-Polydactyly+Syndrome%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Short Rib-Polydactyly Syndrome/genetics"[MAJR]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Short Rib-Polydactyly Syndrome / genetics*"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Short+Rib-Polydactyly+Syndrome" data-ga-category="search_mesh" data-ga-action="mesh_term_link" data-ga-label="Short Rib-Polydactyly Syndrome / genetics*"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Short Rib-Polydactyly Syndrome/genetics"[MAJR]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Short Rib-Polydactyly Syndrome/genetics"[MAJR]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Short Rib-Polydactyly Syndrome / physiopathology" tabindex="0" aria-controls="keyword-actions-mesh-terms-33" aria-expanded="false" data-pinger-ignore> Short Rib-Polydactyly Syndrome / physiopathology </button><div id="keyword-actions-mesh-terms-33" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Short Rib-Polydactyly Syndrome / physiopathology"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Short+Rib-Polydactyly+Syndrome%2Fphysiopathology%22%5BMeSH%5D&sort=date&sort_order=desc" data-href="/?term=%22Short+Rib-Polydactyly+Syndrome%2Fphysiopathology%22%5BMeSH%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&mesh="Short Rib-Polydactyly Syndrome/physiopathology"[MeSH]" data-ga-category="search" data-ga-action="mesh_term" data-ga-label="Short Rib-Polydactyly Syndrome / physiopathology"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=Short+Rib-Polydactyly+Syndrome" data-ga-category="search_mesh" 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data-search-term=""Coat Protein Complex I"[nm]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Coat Protein Complex I"[nm]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Codon, Nonsense" tabindex="0" aria-controls="keyword-actions-substances-1" aria-expanded="false" data-pinger-ignore> Codon, Nonsense </button><div id="keyword-actions-substances-1" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Codon, Nonsense"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Codon%2C+Nonsense%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22Codon%2C+Nonsense%22%5Bnm%5D&sort=date&sort_order=desc" 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aria-expanded="false" data-pinger-ignore> Cytoskeletal Proteins </button><div id="keyword-actions-substances-2" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Cytoskeletal Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Cytoskeletal+Proteins%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22Cytoskeletal+Proteins%22%5Bnm%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="Cytoskeletal Proteins"[nm]" data-ga-category="search" data-ga-action="substance" data-ga-label="Cytoskeletal Proteins"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Cytoskeletal+Proteins%22" data-ga-category="search_mesh" data-ga-action="substance_link" data-ga-label="Cytoskeletal Proteins"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Cytoskeletal Proteins"[nm]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Cytoskeletal Proteins"[nm]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Hedgehog Proteins" tabindex="0" aria-controls="keyword-actions-substances-3" aria-expanded="false" data-pinger-ignore> Hedgehog Proteins </button><div id="keyword-actions-substances-3" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Hedgehog Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Hedgehog+Proteins%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22Hedgehog+Proteins%22%5Bnm%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="Hedgehog Proteins"[nm]" data-ga-category="search" data-ga-action="substance" data-ga-label="Hedgehog Proteins"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Hedgehog+Proteins%22" data-ga-category="search_mesh" data-ga-action="substance_link" data-ga-label="Hedgehog Proteins"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Hedgehog Proteins"[nm]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Hedgehog Proteins"[nm]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button 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aria-controls="keyword-actions-substances-5" aria-expanded="false" data-pinger-ignore> Mutant Proteins </button><div id="keyword-actions-substances-5" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Mutant Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Mutant+Proteins%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22Mutant+Proteins%22%5Bnm%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="Mutant Proteins"[nm]" data-ga-category="search" data-ga-action="substance" data-ga-label="Mutant Proteins"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Mutant+Proteins%22" data-ga-category="search_mesh" data-ga-action="substance_link" data-ga-label="Mutant Proteins"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Mutant Proteins"[nm]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Mutant Proteins"[nm]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword Proteins" tabindex="0" aria-controls="keyword-actions-substances-6" aria-expanded="false" data-pinger-ignore> Proteins </button><div id="keyword-actions-substances-6" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22Proteins%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22Proteins%22%5Bnm%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="Proteins"[nm]" data-ga-category="search" data-ga-action="substance" data-ga-label="Proteins"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=%22Proteins%22" data-ga-category="search_mesh" data-ga-action="substance_link" data-ga-label="Proteins"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""Proteins"[nm]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""Proteins"[nm]" href="#"> Add to Search </a></li></ul></div></div></div></li><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link" aria-label="Toggle dropdown menu for keyword WDR35 protein, human" tabindex="0" aria-controls="keyword-actions-substances-7" aria-expanded="false" data-pinger-ignore> WDR35 protein, human </button><div id="keyword-actions-substances-7" class="keyword-actions-dropdown dropdown dropdown-container" hidden aria-label="Dropdown menu for keyword WDR35 protein, human"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link" href="/?term=%22WDR35+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22WDR35+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="WDR35 protein, human"[nm]" data-ga-category="search" data-ga-action="substance" data-ga-label="WDR35 protein, human"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=%22WDR35+protein%2C+human%22" data-ga-category="search_mesh" 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dropdown-block-link" href="/?term=%22WDR35+protein%2C+mouse%22%5Bnm%5D&sort=date&sort_order=desc" data-href="/?term=%22WDR35+protein%2C+mouse%22%5Bnm%5D&sort=date&sort_order=desc" ref="linksrc=search_in_pubmed_keyword_link&keyword="WDR35 protein, mouse"[nm]" data-ga-category="search" data-ga-action="substance" data-ga-label="WDR35 protein, mouse"> Search in PubMed </a></li><li><a class="search-in-mesh-link dropdown-block-link" ref="linksrc=search_in_mesh_link" href="https://www.ncbi.nlm.nih.gov/mesh?term=%22WDR35+protein%2C+mouse%22" data-ga-category="search_mesh" data-ga-action="substance_link" data-ga-label="WDR35 protein, mouse"> Search in MeSH </a></li><li><a class="add-to-search-link dropdown-block-link" ref="linksrc=add_to_search_link" role="button" data-search-term=""WDR35 protein, mouse"[nm]" data-ga-category="search" data-ga-action="add_to_search" data-ga-label=""WDR35 protein, mouse"[nm]" href="#"> Add to Search </a></li></ul></div></div></div></li></ul> </div> <div id="related-links" class="related-links"> <h2 class="title"> Related information </h2> <ul class="related-links-list"><li><a title="Clinical variations associated with publication" href="https://www.ncbi.nlm.nih.gov/clinvar?linkname=pubmed_clinvar&from_uid=21473986" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21473986&ordinalpos=1&linkpos=1"> ClinVar </a></li><li><a title="Link to related Genes" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene&from_uid=21473986" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21473986&ordinalpos=1&linkpos=2"> Gene </a></li><li><a title="Link to Gene for the GeneRIF subcategory" href="https://www.ncbi.nlm.nih.gov/gene?linkname=pubmed_gene_rif&from_uid=21473986" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21473986&ordinalpos=1&linkpos=3"> Gene (GeneRIF) </a></li><li><a title="Related information in MedGen" href="https://www.ncbi.nlm.nih.gov/medgen?linkname=pubmed_medgen&from_uid=21473986" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21473986&ordinalpos=1&linkpos=4"> MedGen </a></li><li><a title="Published Nucleotide sequences" href="https://www.ncbi.nlm.nih.gov/nuccore?linkname=pubmed_nuccore&from_uid=21473986" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21473986&ordinalpos=1&linkpos=5"> Nucleotide </a></li><li><a title="OMIM (cited) Links" href="https://www.ncbi.nlm.nih.gov/omim?linkname=pubmed_omim_cited&from_uid=21473986" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21473986&ordinalpos=1&linkpos=6"> OMIM (cited) </a></li><li><a title="Published protein sequences" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein&from_uid=21473986" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21473986&ordinalpos=1&linkpos=7"> Protein </a></li><li><a title="Link to Protein RefSeqs" href="https://www.ncbi.nlm.nih.gov/protein?linkname=pubmed_protein_refseq&from_uid=21473986" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21473986&ordinalpos=1&linkpos=8"> Protein (RefSeq) </a></li><li><a title="PubMed to SNP links" href="https://www.ncbi.nlm.nih.gov/snp?linkname=pubmed_snp&from_uid=21473986" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21473986&ordinalpos=1&linkpos=9"> SNP </a></li><li><a title="Link from PubMed to dbVar" href="https://www.ncbi.nlm.nih.gov/dbvar?linkname=pubmed_dbvar&from_uid=21473986" ref="log$=recordlinks&logdbfrom=pubmed&ncbi_uid=21473986&ordinalpos=1&linkpos=10"> dbVar </a></li></ul> </div> <div id="grants" class="grants"> <h2 class="title"> Grants and funding </h2> <div class="grants-list"><ul id="grants-head-list"><li class="grant-item"><a title="All articles for grant MC_PC_U127561112/MRC_/Medical Research Council/United Kingdom" href="/?term=MC_PC_U127561112%2FMRC_%2FMedical+Research+Council%2FUnited+Kingdom%5BGrants+and+Funding%5D&sort=date&sort_order=desc" ref="linksrc=grant_link" data-ga-category="search" data-ga-action="grant" data-ga-label="MC_PC_U127561112" > MC_PC_U127561112/MRC_/Medical Research 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Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis - PubMed