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|
||
|
||
<a href="/clipboard/"
|
||
class="search-input-link clipboard-link hidden"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="clipboard">
|
||
Clipboard <span class="amount-in-clipboard"></span>
|
||
</a>
|
||
</div>
|
||
|
||
<span class="search-input-link user-guide-link" role="navigation" aria-label="User guide">
|
||
<a href="/help/"
|
||
data-ga-category="featured_link"
|
||
data-ga-action="user_guide">
|
||
User Guide
|
||
</a>
|
||
</span>
|
||
|
||
</div>
|
||
</div>
|
||
|
||
|
||
</form>
|
||
|
||
|
||
<div id="article-page-header">
|
||
<div id="article-top-actions-bar" class="article-top-actions-bar">
|
||
<div class="inner-wrap">
|
||
<div class="actions-container">
|
||
<div class="return-to-search">
|
||
|
||
|
||
</div>
|
||
|
||
<div class="multiple-results-actions " role="region" aria-label="save, email, send to">
|
||
<button id="save-results-panel-trigger"
|
||
type="button"
|
||
class="save-results save-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="save-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="open">
|
||
Save
|
||
</button><button id="email-results-panel-trigger"
|
||
type="button"
|
||
class="email-results email-results-panel-trigger"
|
||
aria-expanded="false"
|
||
aria-controls="email-action-panel"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="open">
|
||
Email
|
||
</button><div class="more-actions dropdown-block"><button id="more-actions-trigger"
|
||
type="button"
|
||
class="trigger more-actions-trigger"
|
||
ref="linksrc=show_moreactions_btn"
|
||
aria-label="Send to"
|
||
aria-controls="more-actions-dropdown">Send to</button><div id="more-actions-dropdown" class="dropdown dropdown-container" hidden><div class="content"><ul class="more-actions-links"><li><a class="clipboard-panel-trigger dropdown-block-link "
|
||
href="#"
|
||
role="button"
|
||
data-ga-category="save_share"
|
||
data-ga-action="clipboard"
|
||
data-ga-label="send">
|
||
Clipboard
|
||
</a></li><li><a role="button" class="dropdown-block-link bibliography-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F25865493%2F%23open-bibliography-panel">My Bibliography</a></li><li><a role="button" class="dropdown-block-link collections-trigger-target" href="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F25865493%2F%23open-collections-panel">Collections</a></li><li><a role="button" class="citation-manager-panel-trigger dropdown-block-link citation-manager-trigger-target" href="#">Citation manager</a></li></ul></div></div></div>
|
||
</div>
|
||
|
||
|
||
|
||
<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="article-display-format">
|
||
<option value="abstract">Abstract</option>
|
||
|
||
<option value="pubmed">PubMed</option>
|
||
|
||
<option value="pmid">PMID</option>
|
||
|
||
</select>
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
</div>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="98grHNxxenA4ZhxkgTFuJroaThBdhnKwqV0wkD0TOYnyTIDaTciwdzUOrljpaYiQ">
|
||
</div>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="article-panels-container" class="article-panels-container">
|
||
<div id="save-action-panel" class="save-action-panel action-panel" aria-hidden="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Save citation to file
|
||
</h2>
|
||
<form id="save-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="98grHNxxenA4ZhxkgTFuJroaThBdhnKwqV0wkD0TOYnyTIDaTciwdzUOrljpaYiQ">
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="save-action-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="save-action-format" name="results-format" class="action-panel-selector">
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="pubmed-text">PubMed</option>
|
||
<option value="pmid">PMID</option>
|
||
<option value="abstract">Abstract (text)</option>
|
||
<option value="csv">CSV</option>
|
||
</select>
|
||
</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="save"
|
||
data-ga-label="save">
|
||
Create file
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Save citations to file' panel"
|
||
ref="linksrc=close_save_panel"
|
||
aria-controls="save-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="save"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div id="email-action-panel"
|
||
class="email-action-panel action-panel"
|
||
aria-hidden="true"
|
||
data-recaptcha-script-url="https://www.recaptcha.net/recaptcha/enterprise.js?render=explicit&onload=onloadCaptchaCallback"
|
||
data-recaptcha-enabled="true">
|
||
<div class="inner-wrap">
|
||
<h2 class="action-panel-heading">
|
||
Email citation
|
||
</h2>
|
||
<form id="email-action-panel-form"
|
||
class="action-panel-content action-form"
|
||
action="/send-email/"
|
||
data-by-search-action="/results-export-email-by-search-data/"
|
||
data-by-ids-action="/send-email/"
|
||
data-by-search-method="post"
|
||
data-by-ids-method="post"
|
||
method="post"
|
||
>
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="98grHNxxenA4ZhxkgTFuJroaThBdhnKwqV0wkD0TOYnyTIDaTciwdzUOrljpaYiQ">
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<span class="action-panel-label">
|
||
Subject:
|
||
</span>
|
||
<span class="email-subject" id="email-subject" aria-label="Email subject">1 selected item: 25865493 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 25865493"/>
|
||
<input type="hidden" name="email-subject-hash" value="257a6354698e9968068d6e2882059ae832445434e6e0d3c4ecd03e0bc0437657"/>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-to" class="action-panel-label required-field-asterisk">
|
||
To:
|
||
</label>
|
||
<input type="email" aria-label="Recipient Email Address" placeholder="email@example.com" id="email-to" class="email-to" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="100" required>
|
||
</div>
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-from" class="action-panel-label">
|
||
From:
|
||
</label>
|
||
<input type="email" aria-label="Sender Email Address" placeholder="email@example.com" id="email-from" class="email-from" pattern="^[a-zA-Z0-9_.+-]+@[a-zA-Z0-9-]+\.[a-zA-Z0-9-.]+$" maxlength="256">
|
||
</div>
|
||
|
||
|
||
|
||
<div class="action-panel-control-wrap">
|
||
<label for="email-citation-format" class="action-panel-label">
|
||
Format:
|
||
</label>
|
||
<select id="email-citation-format" name="citation-format" class="action-panel-selector email-citation-format">
|
||
<option selected="selected" value="summary">Summary</option>
|
||
<option value="summary-text">Summary (text)</option>
|
||
<option value="abstract">Abstract</option>
|
||
<option value="abstract-text">Abstract (text)</option>
|
||
|
||
</select>
|
||
</div>
|
||
<div class="include-supplemental-container">
|
||
<input type="checkbox" aria-label="Include MeSH and other data" name="include-supplemental" id="email-include-supplemental" class="email-include-supplemental">
|
||
<label for="email-include-supplemental" class="email-include-supplemental-label">MeSH and other data</label>
|
||
</div>
|
||
|
||
|
||
|
||
<div class="form-field recaptcha ">
|
||
|
||
|
||
|
||
<div class="g-recaptcha" id="id-recaptcha" data-sitekey="6LfsWHMdAAAAAClKbtOpjQ2pMjgsGxvv7NdZW9uI"></div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
<div id="captcha-error-message" class="usa-input-error-message captcha-validation-message" role="alert"></div>
|
||
|
||
|
||
|
||
<div class="action-panel-actions">
|
||
<button class="action-panel-submit"
|
||
type="submit"
|
||
data-loading-label="Sending..."
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="send">
|
||
Send email
|
||
</button>
|
||
<button class="action-panel-cancel"
|
||
aria-label="Close 'Email citations' panel"
|
||
ref="linksrc=close_email_panel"
|
||
aria-controls="email-action-panel"
|
||
aria-expanded="false"
|
||
data-ga-category="save_share"
|
||
data-ga-action="email"
|
||
data-ga-label="cancel">
|
||
Cancel
|
||
</button>
|
||
</div>
|
||
<input type="hidden" name="email-search-details" value="" />
|
||
<input type="hidden" name="email-search-details-hash" value="0e42663a6c3bd85498fcb88798998fed7bfdc45d457db35281e41afe13cc0524" />
|
||
</form>
|
||
</div>
|
||
</div>
|
||
|
||
<div id="collections-action-panel"
|
||
class="collections-action-panel action-panel in-progress-dots-panel"
|
||
aria-hidden="true"
|
||
data-collections-open-panel-enabled="false"
|
||
data-collections-open-panel-url-hash="#open-collections-panel">
|
||
<div class="inner-wrap">
|
||
<h3 class="action-panel-heading">
|
||
Add to Collections
|
||
</h3>
|
||
|
||
|
||
<form id="collections-action-panel-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-get-article-ids-by-search-url="/get-article-ids-by-search/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-add-to-collection-max-amount="1000"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/">
|
||
|
||
<input type="hidden" name="csrfmiddlewaretoken" value="98grHNxxenA4ZhxkgTFuJroaThBdhnKwqV0wkD0TOYnyTIDaTciwdzUOrljpaYiQ">
|
||
|
||
|
||
|
||
<div class="choice-group" role="radiogroup">
|
||
<ul class="radio-group-items">
|
||
<li>
|
||
<input type="radio"
|
||
id="collections-action-panel-new"
|
||
class="collections-new"
|
||
name="collections"
|
||
value="new"
|
||
data-ga-category="save_share"
|
||
data-ga-action="collections"
|
||
data-ga-label="collections_radio_new">
|
||
<label for="collections-action-panel-new">Create a 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="98grHNxxenA4ZhxkgTFuJroaThBdhnKwqV0wkD0TOYnyTIDaTciwdzUOrljpaYiQ">
|
||
|
||
|
||
|
||
<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="98grHNxxenA4ZhxkgTFuJroaThBdhnKwqV0wkD0TOYnyTIDaTciwdzUOrljpaYiQ">
|
||
|
||
<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="98grHNxxenA4ZhxkgTFuJroaThBdhnKwqV0wkD0TOYnyTIDaTciwdzUOrljpaYiQ">
|
||
|
||
|
||
|
||
<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="98grHNxxenA4ZhxkgTFuJroaThBdhnKwqV0wkD0TOYnyTIDaTciwdzUOrljpaYiQ">
|
||
|
||
<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="25865493">
|
||
<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"
|
||
href="https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(15)00102-0"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=3048&itool=Abstract-def&log$=linkouticon&uid=25865493&db=pubmed&nlmid=0370475"
|
||
title="See full text options at Elsevier Science"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Elsevier Science"
|
||
data-ga-label="25865493"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--linkinghub.elsevier.com-ihub-images-celloa.png" alt="Elsevier Science full text link"><span class="text">
|
||
|
||
Elsevier Science
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/25865493/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=25865493&db=pubmed&nlmid=0370475"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="25865493"
|
||
><span class="text">
|
||
|
||
Free PMC article
|
||
|
||
</span></a>
|
||
</div>
|
||
|
||
</div>
|
||
|
||
<div class="short-view">
|
||
<a href="#" class="full-text-links-button full-text-links-dialog-trigger">
|
||
Full text links
|
||
</a>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
<div class="actions-buttons sidebar"><h3 class="title">Actions</h3><div class="inner-wrap"><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="/25865493/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/25865493/export/"><span class="button-label">Cite</span></button><link type="text/css" href="ncbi-overlay-block/src/overlay-block.css"><div class="collections-button-container" data-article-id="25865493" data-article-db="pubmed"><button class="collections-button collections-dialog-trigger"
|
||
aria-label="Save article in MyNCBI collections."
|
||
data-ga-category="collections_button"
|
||
data-ga-action="click"
|
||
data-ga-label="collections_button"
|
||
data-collections-open-dialog-enabled="false"
|
||
data-collections-open-dialog-url="https://account.ncbi.nlm.nih.gov/?back_url=https%3A%2F%2Fpubmed.ncbi.nlm.nih.gov%2F25865493%2F%23open-collections-dialog"
|
||
data-in-collections="false"><span class="button-label">Collections</span></button><div class="overlay" role="dialog"><div id="collections-action-dialog"
|
||
class="dialog collections-dialog"
|
||
aria-hidden="true"><div class="title">Add to Collections</div><div class="collections-action-panel action-panel"><form id="collections-action-dialog-form"
|
||
class="collections-action-panel-form action-panel-content action-form action-panel-smaller-selectors"
|
||
data-existing-collections-url="/list-existing-collections/"
|
||
data-add-to-existing-collection-url="/add-to-existing-collection/"
|
||
data-create-and-add-to-new-collection-url="/create-and-add-to-new-collection/"
|
||
data-myncbi-max-collection-name-length="100"
|
||
data-collections-root-url="https://www.ncbi.nlm.nih.gov/myncbi/collections/"><input type="hidden" name="csrfmiddlewaretoken" value="98grHNxxenA4ZhxkgTFuJroaThBdhnKwqV0wkD0TOYnyTIDaTciwdzUOrljpaYiQ"><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" data-format-key="format"
|
||
data-default-format-value="abstract"
|
||
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</a></li></ul></div></div></div><span class="period">. </span><span class="cit">2015 May 7;96(5):816-25.</span>
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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
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data-ga-label="Alessandro Bruselles">Alessandro Bruselles</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy." href="#full-view-affiliation-2" ref="linksrc=author_aff">
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2
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9
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10
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data-ga-label="Sabrina Prudente">Sabrina Prudente</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, Rome, 00198 Italy." href="#full-view-affiliation-11" ref="linksrc=author_aff">
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11
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data-ga-label="Maria T Fiorenza">Maria T Fiorenza</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Psicologia, Sezione di Neuroscienze, Università "La Sapienza," Rome, 00161 Italy." href="#full-view-affiliation-12" ref="linksrc=author_aff">
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12
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13
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data-ga-label="Nicole Philip">Nicole Philip</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, 13385 France." href="#full-view-affiliation-14" ref="linksrc=author_aff">
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14
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data-ga-label="Dmitriy Niyazov">Dmitriy Niyazov</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Division of Medical Genetics, Ochsner Health System, New Orleans, LA 70121, USA." href="#full-view-affiliation-15" ref="linksrc=author_aff">
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15
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data-ga-label="Chiara Leoni">Chiara Leoni</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Istituto di Pediatria, Università Cattolica del Sacro Cuore, Rome, 00168 Italy." href="#full-view-affiliation-4" ref="linksrc=author_aff">
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4
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data-ga-label="Takaya Nakane">Takaya Nakane</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Center for Genetic Medicine, University of Yamanashi, Chuo, Yamanashi, 409-3898 Japan." href="#full-view-affiliation-16" ref="linksrc=author_aff">
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16
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17
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data-ga-label="Stephen R Braddock">Stephen R Braddock</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA." href="#full-view-affiliation-18" ref="linksrc=author_aff">
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18
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data-ga-label="Gabriele Gillessen-Kaesbach">Gabriele Gillessen-Kaesbach</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut für Humangenetik, Universität zu Lübeck, Lübeck, 23538 Germany." href="#full-view-affiliation-19" ref="linksrc=author_aff">
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19
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data-ga-label="Antonio Palleschi">Antonio Palleschi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma "Tor Vergata," Rome, 00133 Italy." href="#full-view-affiliation-6" ref="linksrc=author_aff">
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6
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20
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data-ga-label="Brendan H L Lee">Brendan H L Lee</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA." href="#full-view-affiliation-21" ref="linksrc=author_aff">
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21
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data-ga-label="Celio Pouponnot">Celio Pouponnot</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institut Curie Centre de Recherche, CNRS UMR 3347, INSERM U1021, Paris Sud University, Orsay, 91405 France." href="#full-view-affiliation-22" ref="linksrc=author_aff">
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22
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data-ga-label="Lorenzo Stella">Lorenzo Stella</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma "Tor Vergata," Rome, 00133 Italy." href="#full-view-affiliation-6" ref="linksrc=author_aff">
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6
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data-ga-label="Gianfranco Bocchinfuso">Gianfranco Bocchinfuso</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma "Tor Vergata," Rome, 00133 Italy." href="#full-view-affiliation-6" ref="linksrc=author_aff">
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6
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data-ga-label="Nicholas Katsanis">Nicholas Katsanis</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Human Disease Modeling, Department of Cell Biology, Duke University, Durham, NC 27710, USA." href="#full-view-affiliation-5" ref="linksrc=author_aff">
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5
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Katia Sol-Church">Katia Sol-Church</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Pediatric Research, A.I. duPont Hospital for Children, Wilmington, DE 19803, USA." href="#full-view-affiliation-8" ref="linksrc=author_aff">
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8
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Marco Tartaglia">Marco Tartaglia</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Polo di Ricerca - Malattie rare, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, 00146 Italy. Electronic address: marco.tartaglia@iss.it." href="#full-view-affiliation-23" ref="linksrc=author_aff">
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23
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</a></sup></span>
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Affiliations
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Affiliations
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><sup class="key">1</sup> Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Polo di Ricerca - Malattie rare, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, 00146 Italy.</li>
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<li data-affiliation-id="full-view-affiliation-2"
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><sup class="key">2</sup> Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy.</li>
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<li data-affiliation-id="full-view-affiliation-3"
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id="full-view-affiliation-3"
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><sup class="key">3</sup> Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, DE 19803, USA.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-4"
|
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id="full-view-affiliation-4"
|
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><sup class="key">4</sup> Istituto di Pediatria, Università Cattolica del Sacro Cuore, Rome, 00168 Italy.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-5"
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id="full-view-affiliation-5"
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><sup class="key">5</sup> Center for Human Disease Modeling, Department of Cell Biology, Duke University, Durham, NC 27710, USA.</li>
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<li data-affiliation-id="full-view-affiliation-6"
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id="full-view-affiliation-6"
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><sup class="key">6</sup> Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma "Tor Vergata," Rome, 00133 Italy.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-7"
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id="full-view-affiliation-7"
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><sup class="key">7</sup> Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Dipartimento di Medicina Sperimentale, Università "La Sapienza," 00161 Rome, Italy.</li>
|
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<li data-affiliation-id="full-view-affiliation-8"
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id="full-view-affiliation-8"
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><sup class="key">8</sup> Center for Pediatric Research, A.I. duPont Hospital for Children, Wilmington, DE 19803, USA.</li>
|
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<li data-affiliation-id="full-view-affiliation-9"
|
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id="full-view-affiliation-9"
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><sup class="key">9</sup> Dipartimento di Medicina Sperimentale, Università "La Sapienza," 00161 Rome, Italy.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-10"
|
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id="full-view-affiliation-10"
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><sup class="key">10</sup> Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, 00161 Italy.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-11"
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id="full-view-affiliation-11"
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><sup class="key">11</sup> Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, Rome, 00198 Italy.</li>
|
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|
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<li data-affiliation-id="full-view-affiliation-12"
|
||
id="full-view-affiliation-12"
|
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><sup class="key">12</sup> Dipartimento di Psicologia, Sezione di Neuroscienze, Università "La Sapienza," Rome, 00161 Italy.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-13"
|
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id="full-view-affiliation-13"
|
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><sup class="key">13</sup> Sezione di Istologia e Embriologia Medica, Dipartimento di Scienze Anatomiche, Istologiche, Medico-legali e dell'Apparato Locomotore, Università "La Sapienza," Rome, 00161 Italy.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-14"
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id="full-view-affiliation-14"
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><sup class="key">14</sup> Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, 13385 France.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-15"
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id="full-view-affiliation-15"
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><sup class="key">15</sup> Division of Medical Genetics, Ochsner Health System, New Orleans, LA 70121, USA.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-16"
|
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id="full-view-affiliation-16"
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><sup class="key">16</sup> Department of Pediatrics, Center for Genetic Medicine, University of Yamanashi, Chuo, Yamanashi, 409-3898 Japan.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-17"
|
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id="full-view-affiliation-17"
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><sup class="key">17</sup> Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-18"
|
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id="full-view-affiliation-18"
|
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><sup class="key">18</sup> Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-19"
|
||
id="full-view-affiliation-19"
|
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><sup class="key">19</sup> Institut für Humangenetik, Universität zu Lübeck, Lübeck, 23538 Germany.</li>
|
||
|
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<li data-affiliation-id="full-view-affiliation-20"
|
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id="full-view-affiliation-20"
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><sup class="key">20</sup> Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, H3T 1C5 Canada.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-21"
|
||
id="full-view-affiliation-21"
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><sup class="key">21</sup> Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</li>
|
||
|
||
<li data-affiliation-id="full-view-affiliation-22"
|
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id="full-view-affiliation-22"
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><sup class="key">22</sup> Institut Curie Centre de Recherche, CNRS UMR 3347, INSERM U1021, Paris Sud University, Orsay, 91405 France.</li>
|
||
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<li data-affiliation-id="full-view-affiliation-23"
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><sup class="key">23</sup> Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Polo di Ricerca - Malattie rare, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, 00146 Italy. Electronic address: marco.tartaglia@iss.it.</li>
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Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
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16
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17
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18
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19
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6
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20
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21
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22
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6
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data-ga-label="Gianfranco Bocchinfuso">Gianfranco Bocchinfuso</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma "Tor Vergata," Rome, 00133 Italy." href="#short-view-affiliation-6" ref="linksrc=author_aff">
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6
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data-ga-label="Nicholas Katsanis">Nicholas Katsanis</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Human Disease Modeling, Department of Cell Biology, Duke University, Durham, NC 27710, USA." href="#short-view-affiliation-5" ref="linksrc=author_aff">
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5
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data-ga-label="Katia Sol-Church">Katia Sol-Church</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Center for Pediatric Research, A.I. duPont Hospital for Children, Wilmington, DE 19803, USA." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
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8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Marco Tartaglia">Marco Tartaglia</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Polo di Ricerca - Malattie rare, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, 00146 Italy. Electronic address: marco.tartaglia@iss.it." href="#short-view-affiliation-23" ref="linksrc=author_aff">
|
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23
|
||
</a></sup></span>
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Affiliations
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<li data-affiliation-id="short-view-affiliation-1"
|
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id="short-view-affiliation-1"
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><sup class="key">1</sup> Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Polo di Ricerca - Malattie rare, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, 00146 Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, DE 19803, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> Istituto di Pediatria, Università Cattolica del Sacro Cuore, Rome, 00168 Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> Center for Human Disease Modeling, Department of Cell Biology, Duke University, Durham, NC 27710, USA.</li>
|
||
|
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<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> Dipartimento di Scienze e Tecnologie Chimiche, Università di Roma "Tor Vergata," Rome, 00133 Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Dipartimento di Medicina Sperimentale, Università "La Sapienza," 00161 Rome, Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> Center for Pediatric Research, A.I. duPont Hospital for Children, Wilmington, DE 19803, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> Dipartimento di Medicina Sperimentale, Università "La Sapienza," 00161 Rome, Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, 00161 Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-11"
|
||
id="short-view-affiliation-11"
|
||
><sup class="key">11</sup> Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, Rome, 00198 Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-12"
|
||
id="short-view-affiliation-12"
|
||
><sup class="key">12</sup> Dipartimento di Psicologia, Sezione di Neuroscienze, Università "La Sapienza," Rome, 00161 Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-13"
|
||
id="short-view-affiliation-13"
|
||
><sup class="key">13</sup> Sezione di Istologia e Embriologia Medica, Dipartimento di Scienze Anatomiche, Istologiche, Medico-legali e dell'Apparato Locomotore, Università "La Sapienza," Rome, 00161 Italy.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-14"
|
||
id="short-view-affiliation-14"
|
||
><sup class="key">14</sup> Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, 13385 France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-15"
|
||
id="short-view-affiliation-15"
|
||
><sup class="key">15</sup> Division of Medical Genetics, Ochsner Health System, New Orleans, LA 70121, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-16"
|
||
id="short-view-affiliation-16"
|
||
><sup class="key">16</sup> Department of Pediatrics, Center for Genetic Medicine, University of Yamanashi, Chuo, Yamanashi, 409-3898 Japan.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-17"
|
||
id="short-view-affiliation-17"
|
||
><sup class="key">17</sup> Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute/NIH, Bethesda, MD 20892, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-18"
|
||
id="short-view-affiliation-18"
|
||
><sup class="key">18</sup> Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-19"
|
||
id="short-view-affiliation-19"
|
||
><sup class="key">19</sup> Institut für Humangenetik, Universität zu Lübeck, Lübeck, 23538 Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-20"
|
||
id="short-view-affiliation-20"
|
||
><sup class="key">20</sup> Department of Pediatrics, Sainte-Justine Hospital, University of Montreal, Montreal, H3T 1C5 Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-21"
|
||
id="short-view-affiliation-21"
|
||
><sup class="key">21</sup> Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-22"
|
||
id="short-view-affiliation-22"
|
||
><sup class="key">22</sup> Institut Curie Centre de Recherche, CNRS UMR 3347, INSERM U1021, Paris Sud University, Orsay, 91405 France.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-23"
|
||
id="short-view-affiliation-23"
|
||
><sup class="key">23</sup> Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, 00161 Italy; Polo di Ricerca - Malattie rare, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, 00146 Italy. Electronic address: marco.tartaglia@iss.it.</li>
|
||
|
||
</ul>
|
||
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<p>
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||
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||
Transcription factors operate in developmental processes to mediate inductive events and cell competence, and perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, and growth. We report that a narrow spectrum of amino-acid substitutions within the transactivation domain of the v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), a leucine zipper-containing transcription factor of the AP1 superfamily, profoundly affect development. Seven different de novo missense mutations involving conserved residues of the four GSK3 phosphorylation motifs were identified in eight unrelated individuals. The distinctive clinical phenotype, for which we propose the eponym Aymé-Gripp syndrome, is not limited to lens and eye defects as previously reported for MAF/Maf loss of function but includes sensorineural deafness, intellectual disability, seizures, brachycephaly, distinctive flat facial appearance, skeletal anomalies, mammary gland hypoplasia, and reduced growth. Disease-causing mutations were demonstrated to impair proper MAF phosphorylation, ubiquitination and proteasomal degradation, perturbed gene expression in primary skin fibroblasts, and induced neurodevelopmental defects in an in vivo model. Our findings nosologically and clinically delineate a previously poorly understood recognizable multisystem disorder, provide evidence for MAF governing a wider range of developmental programs than previously appreciated, and describe a novel instance of protein dosage effect severely perturbing development.
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<p class="copyright" id="copyright">
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Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.
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<p> Figure 1 </p>
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<div class="figure-caption-contents"><p> De Novo Heterozygous Missense Mutations… </p></div>
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<div class="figure-caption-contents"><p> De Novo Heterozygous Missense Mutations Affecting Residues of the GSK3 Phosphorylation Motifs within… </p></div>
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Figure 1
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<div class="figure-caption-contents">De Novo Heterozygous Missense Mutations Affecting Residues of the GSK3 Phosphorylation Motifs within the Transactivation Domain of MAF Cause Aymé-Gripp Syndrome (A) Clinical features of affected subjects. Note the distinctive flat face, brachycephaly, ptosis, short nasal tip, long philtrum, small mouth, low-set and posteriorly angulated ears, and nail dystrophy. Permission to publish photographs was provided for all subjects shown. (B) Scheme of the MAF domain structure, and location of <i>MAF</i> mutations causing human disease. MAF contains an N-terminal transactivation domain (yellow) with regulatory function, and a C-terminal DNA binding domain, the latter containing an “extended homology” (green), “basic motif” (light blue), and leucine-zipper (pink) regions. The region containing the four in tandem arranged phosphorylation sites recognized by GSK3 (orange) is located within the transactivation domain. Residues mutated in subjects with Aymé-Gripp syndrome (red) and previously reported isolated cataracts/eye defects (black) are shown. (C) Cartoon illustrating the GSK3 recognition motifs and location of residues affected in Aymé-Gripp syndrome. The GSK3 catalytic domain is depicted with its active site (red) and the site binding to the priming phosphorylated residue (green). To phosphorylate its substrates, GSK3 requires a priming phosphorylation on the substrate four amino acids downstream the residue to be phosphorylated. The serine/threonine residues sequentially targeted by GSK3 are shown (red). Upon phosphorylation, they act as priming residues (green) to allow the subsequent phosphorylation of the upstream Ser/Thr. The kinase phosphorylating Ser70 has not been characterized yet. The residues affected by Aymé-Gripp syndrome-causing mutations (Ser54, Thr58, Pro59, Ser62, and Pro69) are indicated in bold.</div>
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<div class="figure-caption-contents"><p> Molecular Dynamics Simulations of the… </p></div>
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<p> Figure 2 </p>
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<div class="figure-caption-contents"><p> Molecular Dynamics Simulations of the GSK3/MAF Decapeptide Complexes (A) Structural effects of the… </p></div>
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Figure 2
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<div class="figure-caption-contents">Molecular Dynamics Simulations of the GSK3/MAF Decapeptide Complexes (A) Structural effects of the p.Pro59Leu and p.Pro59His changes. In both mutants, the conformation of the trimer comprised between the target and primed residues is considerably rearranged. Representative conformations are reported for wild-type MAF (left) and the p.Pro59Leu mutant (middle). In both mutants, larger and more variable distances are observed between the hydroxyl of Thr58, which is a GSK3 target residue, and the γ-phosphate of ATP (right, top plot) or the carboxyl group of the catalytic residue Asp181 (right, bottom plot). The distribution obtained in the simulations of the wild-type MAF sequence (black) and those referred to the peptides containing the p.Pro59His (red) and p.Pro59Leu (blue) substitutions are shown. (B) Effect of the p.Pro69Arg change. In the simulations, a stable interaction between pSer70 of the wild-type peptide and the priming site was observed (left), while a displacement of that residue from the site was documented for the peptide carrying the p.Pro69Arg change (middle). Such structural rearrangements are quantified by the distance occurring between the P atom of pSer70 and the ω-carbon atom in the side chain of the GSK3 priming site residue, Arg180 (wild-type peptide, black; p.Pro69Arg peptide, green) (right). In the left and middle panels, the surface of GSK is colored in brown, except for the catalytic residue Asp181 (red), and the priming site residues, Arg96, Arg180, and Lys205 (blue). ATP is shown in pink and the MAF backbone in yellow. The side chains of priming, target, and mutated MAF residues are shown in sticks representation.</div>
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<p> Figure 3 </p>
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<div class="figure-caption-contents"><p> Impact of Disease-Causing Mutations on… </p></div>
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<div class="figure-caption-contents"><p> Impact of Disease-Causing Mutations on MAF Function (A) Protein and phosphorylation levels of… </p></div>
|
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<div class="figure-caption-contents">Impact of Disease-Causing Mutations on MAF Function (A) Protein and phosphorylation levels of wild-type and disease-causing mutant MAF proteins in transiently transfected COS1 cells (upper panel). COS1 cells were maintained in high glucose DMEM, plus 10% FBS and supplements, and were transiently transfected to express wild-type <i>MAF</i> or each of the disease-causing alleles (FuGENE 6 [Promega]). To assess ubiquitination, we probed immunoprecipitated MAF with an anti-ubiquitin antibody (#8017, Santa Cruz Biotechnology) (middle panel). Whole-cell extracts were blotted with anti-MAF polyclonal (#7866, Santa Cruz Biotechnology), and anti-β-actin monoclonal (#A5441, Sigma-Aldrich) antibodies. Western blots are from a representative experiment of three performed. (B) Protein stability and proteasome-dependent degradation were assessed in COS1 cells transfected with the indicated constructs. Twenty-four hours after transfection, cells were treated with 20 μg/ml cycloheximide (CHX) or 20 μM MG132 for the indicated times. MAF protein levels were detected by immunoblotting with anti-MAF antibody. Western blots of a representative experiment of three performed are shown. (C) Confocal laser scanning microscopy analysis performed in COS1 cells transiently expressing wild-type <i>MAF</i> or one of three disease-causing alleles, without (upper panels) or with (lower panels) treatment with CSK buffer prior fixation. Cells were stained with anti-MAF polyclonal antibody and Alexa Fluor 488 goat anti-rabbit secondary antibody (green). Nuclei are DAPI stained (blue). Images are representative of 450 analyzed cells (Table S7). Experiments were performed as previously reported. (D) Transactivation assays were performed in COS1 cells transiently cotransfected with the <i>IL4</i> promoter cloned into pGL3 vector reporter construct (kindly provided by Michael Lohoff, University of Marburg, Marburg, Germany) alone (black bar) or together with wild-type MAF (white bar) or each of the disease-causing MAF mutants (blue and red bars) (1:1 ratio), and 1:10 of <i>Renilla</i> luciferase control vector DNA (pRL-Act <i>Renilla</i>). After transfection (24 hr), firefly and <i>Renilla</i> luciferase activities were measured by the Dual Luciferase Reporter Assay System (Promega). Normalized luciferase activity (mean ± SD) of six experiments performed is reported as fold increase relative to cells not expressing exogenous <i>MAF</i>. p values were calculated using two-tailed Student’s t test. <sup>∗</sup>, <sup>∗∗</sup>, and <sup>∗∗∗</sup> indicate p < 0.05, p < 0.01, and p < 0.001, respectively. Protein levels of wild-type and disease-causing mutant MAF proteins were evaluated by immunoblotting with anti-MAF and anti-actin antibodies (lower panels).</div>
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<p> Figure 4 </p>
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<div class="figure-caption-contents"><p> In Vivo Impact of Aymé-Gripp… </p></div>
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<div class="figure-caption-contents"><p> In Vivo Impact of Aymé-Gripp Syndrome- and Isolated Cataract-Causing <i> MAF </i> Mutations on the… </p></div>
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<div class="figure-caption-contents">In Vivo Impact of Aymé-Gripp Syndrome- and Isolated Cataract-Causing <i>MAF</i> Mutations on the Integrity of the Central Nervous System Using a Zebrafish Model (A) Dorsal views of uninjected zebrafish embryos (left), and embryos injected with the Aymé-Gripp syndrome<b>-</b>causing mutant (c.161C>T; p.Ser54Leu) (middle) and wild-type (right) <i>MAF</i> capped mRNA (100 pg) at 3 days after fertilization (dpf). Embryos were whole-mount stained using a primary antibody against acetylated tubulin (1:1000, T7451 [Sigma-Aldrich]) that marks neuronal axons, and an Alexa Fluor goat anti-mouse IgG secondary antibody (1:1000, A21207, Invitrogen). The circle highlights the area of the optic tectum that was measured. (B) Overexpression of wild-type <i>MAF</i> or the congenital cataracts-causing (c.863G>C; p.Arg288Pro) allele do not induce a significant reduction in the size of the optic tectum. By contrast, overexpression of each of the Aymé-Gripp syndrome<b>-</b>causing alleles results in a statistically significantly reduction of the size of the optic tectum (p < 0.0001). Bars indicate SE, and AU denotes arbitrary units. Statistical analysis was performed using two-tailed Student’s t test. For the measurements performed, we scored 86 control embryos, 61 embryos injected with wild-type <i>MAF</i> mRNA, and 58–70 embryos with each of the Aymé-Gripp syndrome-causing alleles’ mRNA. All experiments were performed blind to injection cocktail in duplicate.</div>
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Fine B.A., Lubinsky M. Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations. J. Clin. Dysmorphol. 1983;1:6–9.
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Aymé S., Philip N. Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation. Am. J. Med. Genet. 1997;70:333–335.
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Keppler-Noreuil K., Welch J., Baker-Lange K. Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases. Am. J. Med. Genet. A. 2007;143A:2581–2587.
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href="/?term=%22Down+Syndrome%2Fpathology%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Down Syndrome/pathology"[MeSH]"
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Search in MeSH
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Glycogen Synthase Kinase 3 / genetics*
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data-href="/?term=%22Glycogen+Synthase+Kinase+3%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
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|
||
ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Glycogen Synthase Kinase 3/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Glycogen Synthase Kinase 3/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 Humans"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-6"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Humans
|
||
</button><div id="keyword-actions-mesh-terms-6"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Humans"><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=%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">
|
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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"
|
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ref="linksrc=add_to_search_link"
|
||
role="button"
|
||
data-search-term=""Humans"[MeSH]"
|
||
data-ga-category="search"
|
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data-ga-action="add_to_search"
|
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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 major"
|
||
aria-label="Toggle dropdown menu for keyword Intellectual Disability / genetics*"
|
||
tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-major-7"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Intellectual Disability / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-7"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Intellectual Disability / 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=%22Intellectual+Disability%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Intellectual+Disability%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Intellectual Disability/genetics"[MAJR]"
|
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data-ga-category="search"
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data-ga-action="mesh_term"
|
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data-ga-label="Intellectual Disability / genetics*">
|
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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=Intellectual+Disability"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
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data-ga-label="Intellectual Disability / genetics*">
|
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Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
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role="button"
|
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data-search-term=""Intellectual Disability/genetics"[MAJR]"
|
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data-ga-category="search"
|
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data-ga-action="add_to_search"
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data-ga-label=""Intellectual Disability/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 Intellectual Disability / pathology"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-8"
|
||
aria-expanded="false"
|
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data-pinger-ignore>
|
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Intellectual Disability / pathology
|
||
</button><div id="keyword-actions-mesh-terms-8"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Intellectual Disability / pathology"><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=%22Intellectual+Disability%2Fpathology%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Intellectual+Disability%2Fpathology%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Intellectual Disability/pathology"[MeSH]"
|
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data-ga-category="search"
|
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data-ga-action="mesh_term"
|
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data-ga-label="Intellectual Disability / pathology">
|
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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=Intellectual+Disability"
|
||
data-ga-category="search_mesh"
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||
data-ga-action="mesh_term_link"
|
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data-ga-label="Intellectual Disability / pathology">
|
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Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
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role="button"
|
||
data-search-term=""Intellectual Disability/pathology"[MeSH]"
|
||
data-ga-category="search"
|
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data-ga-action="add_to_search"
|
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data-ga-label=""Intellectual Disability/pathology"[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 Mutation"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-9"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Mutation
|
||
</button><div id="keyword-actions-mesh-terms-9"
|
||
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%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Mutation%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Mutation"[MeSH]"
|
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data-ga-category="search"
|
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data-ga-action="mesh_term"
|
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data-ga-label="Mutation">
|
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Search in PubMed
|
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</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"
|
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data-ga-label="Mutation">
|
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Search in MeSH
|
||
</a></li><li><a class="add-to-search-link dropdown-block-link"
|
||
ref="linksrc=add_to_search_link"
|
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role="button"
|
||
data-search-term=""Mutation"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Mutation"[MeSH]"
|
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href="#">
|
||
Add to Search
|
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</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 Phenotype"
|
||
tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-10"
|
||
aria-expanded="false"
|
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data-pinger-ignore>
|
||
Phenotype
|
||
</button><div id="keyword-actions-mesh-terms-10"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Phenotype"><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=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Phenotype"[MeSH]"
|
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data-ga-category="search"
|
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data-ga-action="mesh_term"
|
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data-ga-label="Phenotype">
|
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Search in PubMed
|
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</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=Phenotype"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
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data-ga-label="Phenotype">
|
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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=""Phenotype"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
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data-ga-label=""Phenotype"[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 Phosphorylation"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-11"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
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Phosphorylation
|
||
</button><div id="keyword-actions-mesh-terms-11"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Phosphorylation"><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=%22Phosphorylation%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Phosphorylation%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Phosphorylation"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
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data-ga-label="Phosphorylation">
|
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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=Phosphorylation"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Phosphorylation">
|
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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=""Phosphorylation"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
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data-ga-label=""Phosphorylation"[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 Proto-Oncogene Proteins c-maf / genetics*"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-major-12"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Proto-Oncogene Proteins c-maf / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-12"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Proto-Oncogene Proteins c-maf / 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=%22Proto-Oncogene+Proteins+c-maf%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Proto-Oncogene+Proteins+c-maf%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Proto-Oncogene Proteins c-maf/genetics"[MAJR]"
|
||
data-ga-category="search"
|
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data-ga-action="mesh_term"
|
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data-ga-label="Proto-Oncogene Proteins c-maf / 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=Proto-Oncogene+Proteins+c-maf"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Proto-Oncogene Proteins c-maf / 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=""Proto-Oncogene Proteins c-maf/genetics"[MAJR]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Proto-Oncogene Proteins c-maf/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 Seizures / genetics"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-13"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Seizures / genetics
|
||
</button><div id="keyword-actions-mesh-terms-13"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Seizures / 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=%22Seizures%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Seizures%2Fgenetics%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Seizures/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Seizures / 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=Seizures"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Seizures / 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=""Seizures/genetics"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Seizures/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 Seizures / pathology"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-mesh-terms-14"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
Seizures / pathology
|
||
</button><div id="keyword-actions-mesh-terms-14"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword Seizures / pathology"><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=%22Seizures%2Fpathology%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Seizures%2Fpathology%22%5BMeSH%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&mesh="Seizures/pathology"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="mesh_term"
|
||
data-ga-label="Seizures / pathology">
|
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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=Seizures"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="mesh_term_link"
|
||
data-ga-label="Seizures / pathology">
|
||
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=""Seizures/pathology"[MeSH]"
|
||
data-ga-category="search"
|
||
data-ga-action="add_to_search"
|
||
data-ga-label=""Seizures/pathology"[MeSH]"
|
||
href="#">
|
||
Add to Search
|
||
</a></li></ul></div></div></div></li></ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
<div id="substances" class="substances keywords-section">
|
||
<h2 class="title">
|
||
Substances
|
||
</h2>
|
||
|
||
<ul class="keywords-list"><li><div class="keyword-actions dropdown-block"><button class="keyword-actions-trigger trigger keyword-link"
|
||
aria-label="Toggle dropdown menu for keyword MAF protein, human"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-0"
|
||
aria-expanded="false"
|
||
data-pinger-ignore>
|
||
MAF protein, human
|
||
</button><div id="keyword-actions-substances-0"
|
||
class="keyword-actions-dropdown dropdown dropdown-container"
|
||
hidden
|
||
aria-label="Dropdown menu for keyword MAF 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=%22MAF+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22MAF+protein%2C+human%22%5Bnm%5D&sort=date&sort_order=desc"
|
||
ref="linksrc=search_in_pubmed_keyword_link&keyword="MAF protein, human"[nm]"
|
||
data-ga-category="search"
|
||
data-ga-action="substance"
|
||
data-ga-label="MAF 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=%22MAF+protein%2C+human%22"
|
||
data-ga-category="search_mesh"
|
||
data-ga-action="substance_link"
|
||
data-ga-label="MAF protein, human">
|
||
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=""MAF protein, human"[nm]"
|
||
data-ga-category="search"
|
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data-ga-action="add_to_search"
|
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data-ga-label=""MAF protein, human"[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 Proto-Oncogene Proteins c-maf"
|
||
tabindex="0"
|
||
aria-controls="keyword-actions-substances-1"
|
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