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<meta name="description" content="Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six …"><meta name="keywords" content="pmid:27663637, PMC5286936, doi:10.3324/haematol.2016.147694, Research Support, Non-U.S. Gov't, Marjorie Poggi, Matthias Canault, Marie-Christine Alessi, Antigens, CD34 / metabolism, Blood Cell Count, Blood Platelets / metabolism*, Cell Differentiation, ETS Translocation Variant 6 Protein, Family, Female, Gene Expression Regulation, Genotype, Germ-Line Mutation*, Hematopoietic Stem Cells / cytology*, Hematopoietic Stem Cells / metabolism*, Humans, Hyperplasia, Male, Megakaryocytes / cytology, Megakaryocytes / metabolism, Megakaryocytes / pathology, Pedigree, Phenotype, Platelet Count, Proto-Oncogene Proteins c-ets / genetics*, Proto-Oncogene Proteins c-ets / metabolism, Repressor Proteins / genetics*, Repressor Proteins / metabolism, Thrombopoiesis / genetics*, Transcription, Genetic, PubMed Abstract, NIH, NLM, NCBI, National Institutes of Health, National Center for Biotechnology Information, National Library of Medicine, MEDLINE"><meta name="robots" content="index,nofollow,noarchive"><meta property="og:title" content="Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/27663637/"><meta property="og:description" content="Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six …"><meta property="og:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:image:secure_url" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg"><meta property="og:type" content="website"><meta property="og:site_name" content="PubMed"><meta name="twitter:domain" content="pubmed.ncbi.nlm.nih.gov"><meta name="twitter:card" content="summary_large_image"><meta name="twitter:title" content="Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/27663637/"><meta name="twitter:description" content="Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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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%2F27663637%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%2F27663637%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="9Ox4ZXuu2aPOpk02GfAxN2JAzjd0p6I5qBh9CNXQCLCijL6Sjydzhafe7nVciHgp">
|
||
</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="9Ox4ZXuu2aPOpk02GfAxN2JAzjd0p6I5qBh9CNXQCLCijL6Sjydzhafe7nVciHgp">
|
||
|
||
|
||
|
||
<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="9Ox4ZXuu2aPOpk02GfAxN2JAzjd0p6I5qBh9CNXQCLCijL6Sjydzhafe7nVciHgp">
|
||
|
||
<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: 27663637 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 27663637"/>
|
||
<input type="hidden" name="email-subject-hash" value="c3bb388fdf51d8160f8a036fe3a077794d5bb9fb1b7833f2ceb1c84ca4ddfbad"/>
|
||
</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="9Ox4ZXuu2aPOpk02GfAxN2JAzjd0p6I5qBh9CNXQCLCijL6Sjydzhafe7nVciHgp">
|
||
|
||
|
||
|
||
<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="9Ox4ZXuu2aPOpk02GfAxN2JAzjd0p6I5qBh9CNXQCLCijL6Sjydzhafe7nVciHgp">
|
||
|
||
|
||
|
||
<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="9Ox4ZXuu2aPOpk02GfAxN2JAzjd0p6I5qBh9CNXQCLCijL6Sjydzhafe7nVciHgp">
|
||
|
||
<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="9Ox4ZXuu2aPOpk02GfAxN2JAzjd0p6I5qBh9CNXQCLCijL6Sjydzhafe7nVciHgp">
|
||
|
||
|
||
|
||
<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="9Ox4ZXuu2aPOpk02GfAxN2JAzjd0p6I5qBh9CNXQCLCijL6Sjydzhafe7nVciHgp">
|
||
|
||
<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="27663637">
|
||
<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://doi.org/10.3324/haematol.2016.147694"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=7619&itool=Abstract-def&log$=linkouticon&uid=27663637&db=pubmed&nlmid=0417435"
|
||
title="See full text options at Pagepress Publications"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Pagepress Publications"
|
||
data-ga-label="27663637"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.pagepress.org-public-haema_linkout.gif" alt="Pagepress Publications full text link"><span class="text">
|
||
|
||
Pagepress Publications
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/27663637/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=27663637&db=pubmed&nlmid=0417435"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="27663637"
|
||
><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="/27663637/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/27663637/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="27663637" 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%2F27663637%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="9Ox4ZXuu2aPOpk02GfAxN2JAzjd0p6I5qBh9CNXQCLCijL6Sjydzhafe7nVciHgp"><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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Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors
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data-ga-label="Nadjim Chelghoum">Nadjim Chelghoum</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Post-Genomic Platform of Pitié-Salpêtrière (P3S), Pierre and Marie Curie University, F-75013 Paris, France." 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="Badreddine Mohand-Oumoussa">Badreddine Mohand-Oumoussa</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Post-Genomic Platform of Pitié-Salpêtrière (P3S), Pierre and Marie Curie University, F-75013 Paris, France." 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="Céline Falaise">Céline Falaise</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="French Reference-Center on Inherited Platelet Disorders, Marseille, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
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6
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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="Rémi Favier">Rémi Favier</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Assistance Publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France." href="#full-view-affiliation-7" ref="linksrc=author_aff">
|
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7
|
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</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Ouwehand+WH&cauthor_id=27663637"
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data-ga-label="Willem H Ouwehand">Willem H Ouwehand</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Haematology and National Health Service Blood & Transplant, Cambridge University, UK." href="#full-view-affiliation-3" ref="linksrc=author_aff">
|
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3
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK." href="#full-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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href="/?term=Fiore+M&cauthor_id=27663637"
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data-ga-label="Mathieu Fiore">Mathieu Fiore</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="French Reference-Center on Inherited Platelet Disorders, Marseille, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Laboratoire d'hématologie, CHU de Bordeaux, Pessac, France." href="#full-view-affiliation-9" ref="linksrc=author_aff">
|
||
9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Peiretti+F&cauthor_id=27663637"
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data-ga-label="Franck Peiretti">Franck Peiretti</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Morange+PE&cauthor_id=27663637"
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data-ga-label="Pierre Emmanuel Morange">Pierre Emmanuel Morange</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="French Reference-Center on Inherited Platelet Disorders, Marseille, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Saut+N&cauthor_id=27663637"
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data-ga-label="Noémie Saut">Noémie Saut</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="French Reference-Center on Inherited Platelet Disorders, Marseille, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
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6
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Denis Bernot">Denis Bernot</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France." href="#full-view-affiliation-1" ref="linksrc=author_aff">
|
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1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Andreas Greinacher">Andreas Greinacher</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Institute for Immunology and Transfusion Medicine, University Medicine Greifswald, Germany." href="#full-view-affiliation-10" ref="linksrc=author_aff">
|
||
10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=BioResource+N&cauthor_id=27663637"
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data-ga-label="Nihr BioResource">Nihr BioResource</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="NIHR BioResource - Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, UK." href="#full-view-affiliation-11" ref="linksrc=author_aff">
|
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11
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Alan T Nurden">Alan T Nurden</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="LIRYC, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Nurden+P&cauthor_id=27663637"
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data-ga-label="Paquita Nurden">Paquita Nurden</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="French Reference-Center on Inherited Platelet Disorders, Marseille, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
||
6
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="LIRYC, Plateforme Technologique et d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France." href="#full-view-affiliation-12" ref="linksrc=author_aff">
|
||
12
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Freson+K&cauthor_id=27663637"
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data-ga-label="Kathleen Freson">Kathleen Freson</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Belgium." href="#full-view-affiliation-13" ref="linksrc=author_aff">
|
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13
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Tr%C3%A9gou%C3%ABt+DA&cauthor_id=27663637"
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data-ga-label="David-Alexandre Trégouët">David-Alexandre Trégouët</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="ICAN Institute of Cardiometabolism and Nutrition, F-75013 Paris, France." href="#full-view-affiliation-14" ref="linksrc=author_aff">
|
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14
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Inserm, UMR_S 1166, Team Genomics and Pathophysiology of Cardiovascular Diseases, F-75013 Paris, France." href="#full-view-affiliation-15" ref="linksrc=author_aff">
|
||
15
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="Sorbonne Universités, Université Pierre et Marie Curie (UPMC Univ Paris 06), UMR_S 1166, F-75013 Paris, France." href="#full-view-affiliation-16" ref="linksrc=author_aff">
|
||
16
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Raslova+H&cauthor_id=27663637"
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data-ga-label="Hana Raslova">Hana Raslova</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Inserm U1170, Gustave Roussy, University Paris Sud, Equipe labellisée Ligue contre le Cancer 94805 Villejuif, France." href="#full-view-affiliation-2" ref="linksrc=author_aff">
|
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2
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Alessi+MC&cauthor_id=27663637"
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data-ga-label="Marie-Christine Alessi">Marie-Christine Alessi</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="Aix Marseille Univ, INSERM, INRA, NORT, Marseille, France marie-christine.alessi@univ-amu.fr." href="#full-view-affiliation-17" ref="linksrc=author_aff">
|
||
17
|
||
</a><span class="author-sup-separator"> </span><a class="affiliation-link" title="French Reference-Center on Inherited Platelet Disorders, Marseille, France." href="#full-view-affiliation-6" ref="linksrc=author_aff">
|
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6
|
||
</a></sup></span>
|
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</div>
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Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors
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16
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Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6, of which five are novel. We observed low repressive activity of all tested ETV6 variants, and variants located in the E26 transformation-specific binding domain (encoding p.A377T, p.Y401N) led to reduced binding to corepressors. We also observed a large expansion of megakaryocyte colony-forming units derived from variant carriers and reduced proplatelet formation with abnormal cytoskeletal organization. The defect in proplatelet formation was also observed in control CD34<sup>+</sup> cell-derived megakaryocytes transduced with lentiviral particles encoding mutant ETV6. Reduced expression levels of key regulators of the actin cytoskeleton CDC42 and RHOA were measured. Moreover, changes in the actin structures are typically accompanied by a rounder platelet shape with a highly heterogeneous size, decreased platelet arachidonic response, and spreading and retarded clot retraction in ETV6 deficient platelets. Elevated numbers of circulating CD34<sup>+</sup> cells were found in p.P214L and p.Y401N carriers, and two patients from different families suffered from refractory anemia with excess blasts, while one patient from a third family was successfully treated for acute myeloid leukemia. Overall, our study provides novel insights into the role of ETV6 as a driver of cytoskeletal regulatory gene expression during platelet production, and the impact of variants resulting in platelets with altered size, shape and function and potentially also in changes in circulating progenitor levels.
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<div class="figure-caption-contents"><p> Identification of variants in <i> ETV6… </i> </p></div>
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<div class="figure-caption-contents"><p> Identification of variants in <i> ETV6 </i> underlying AD thrombocytopenia, megakaryocyte and platelet characteristics. (A)… </p></div>
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<div class="figure-caption-contents">Identification of variants in <i>ETV6</i> underlying AD thrombocytopenia, megakaryocyte and platelet characteristics. (A) Schematic representation of the different domains of the ETV6 protein. The N-terminal domain (PNT), central domain and C-terminal domain containing a DNA-binding domain (ETS) are depicted. Arrows indicate the location of the ETV6 variants and the corresponding family is mentioned in brackets. (B) Pedigrees for the affected families. Squares denote males, circles denote females and slashes represent deceased family members. Black filled symbols represent thrombocytopenic family members and dotted line symbols represent non-tested members. The families F1, F2, F3, F4, F5 and F6 carried the ETV6 p.P214L, p.A377T, p.Y401N, p.I358M, p.R396G and p.Y401H variants, respectively, which segregated with thrombocytopenia. See Table 1 for blood cell count values. (C) Sex-stratified histograms of platelet count and mean platelet volume measurements, obtained using a Coulter hematology analyzer, from 480,001 UK Biobank volunteers, after adjustment for technical artifacts. The red arrows superimposed upon the histograms indicate the sex and values for patients with a deleterious variant in ETV6. The green arrows indicate the sex and values for relatives homozygous for the corresponding wild-type allele. (D) BM smears (May-Grünwald-Giemsa staining) from family F1 propositus (F1-IV3). Left: a relatively immature MK with reduced cytoplasm. Middle: a micromegakaryocyte without granules, with immature cytoplasm (basophilic) and nucleus. Signs of impaired proplatelet formation can be observed. Right: a mature MK of reduced size with a hypolobulated nucleus. Table 1 indicates the % of MKs at each stage of maturation in the BM samples from family F1 proposita (F1-IVI3) and a healthy control. (E) Ultrastructural aspects of platelets from patients F3-I2 and F3-II4, F4-I2 and F4-II3 and unrelated healthy controls. Upper panel: aspect of healthy platelets; middle panel: series of mostly rounder platelets from patients F4-I2 and F4-II3, lower panel: a series of platelets emphasizing anisocytosis in patient F3-114 and a platelet from patient F3-I2 with abnormal membrane complex (MC). Note the heterogeneous presence of α-granules with an occasional granule of increased size. (F) The platelet area and roundness was quantified. Perfect round platelets would have a value of 1. Values are the means and SD as quantified for 50 randomly selected platelets per subject using two-tailed unpaired t-test with Welch’s correction. <sup>***</sup><i>P</i><0.0001. WT: wild-type; MK: megakaryocyte; PNT: pointed; ETS: ET6 transformation-specific.</div>
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|
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data-image-width="717"
|
||
data-image-height="908"
|
||
data-image-alt="Figure 2."
|
||
data-pmc-id="PMC5286936"
|
||
data-figure-id="f2-1020282">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-1"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/e6387b693bfe/102282.fig2.gif"
|
||
alt="Figure 2." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="717">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="908">
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|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 2. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Effect of the variants on… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 2. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Effect of the variants on repressive activity and corepressor recruitment. (A) Western blot… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-1" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
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|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 2.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Effect of the variants on repressive activity and corepressor recruitment. (A) Western blot analysis of ETV6 expression in platelets of 6 affected F1 members and 7 external controls. GAPDH was used as a protein loading control. (B–C) GripTite™ 293 MSR cells were co-transfected with the luciferase reporter plasmid containing 3 tandem copies of the Ets Binding Site (EBS) upstream of HSV-Tk (E743tk80Luc), pCDNA3.1 expression vector (empty, WT or mut<i>ETV6</i>) or pGL473 Renilla luciferase control vector. (B) Western blot analysis of ETV6 expression in whole cell lysates of GripTite™ 293 MSR transfected with WT ETV6 or mut<i>ETV6</i> expression vectors. GAPDH was used as a protein loading control. The data are representative of 4 to 8 independent experiments. (C) The firefly to renilla luminescence ratios (Fluc/Rluc) were calculated to compensate for transfection efficiency. The data represent the mean ± SEM of 4 to 8 independent experiments, student’s t-test <sup>***</sup><i>P</i><0.001 (each condition was compared with WT). (D) Effects of the ETV6 variants on corepressor recruitment. Mammalian two-hybrid analysis of the protein interactions between WT NCOR, SMRT or Sin3A (expressed using the GAL4 DNA-binding domain (DBD) plasmid) and WT ETV6 or mut<i>ETV6</i> (expressed using the GAL4-VP16 activation domain vector). The results are expressed as mean ± SEM of 3 to 8 independent experiments, student’s <i>t</i>-test <sup>*</sup><i>P</i><0.05, <sup>**</sup><i>P</i><0.01, <sup>***</sup><i>P</i><0.001. (E) Immunoprecipitation of endogenous corepressor SMRT and ETV6 from GripTite™ 293 MSR cells transfected with WT and mut<i>ETV6</i>. Immunoprecipitation was performed on cell lysates with ETV6 antibody. The total cell lysates (lower panel) and immunoprecipitates (upper panel) were analyzed <i>via</i> immunoblotting with anti-SMRT antibody. Quantification of band intensity for SMRT and SMRT-extended (SMRTe) is shown below the western blot. The results are expressed as mean ± SEM, student’s <i>t</i>-test, <sup>*</sup><i>P</i><0.05 <i>vs.</i> WT. GAPDH: glyceraldehyde-3-phosphate dehydrogenase; WT: wild-type; A.U: arbitrary unit; IP: immunoprecipitation; IB: immunoblot.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
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data-slide-index="2"
|
||
data-label-slug="figure-3">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/6caa5be22587/102282.fig3.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-2"
|
||
role="button"
|
||
data-image-width="784"
|
||
data-image-height="290"
|
||
data-image-alt="Figure 3."
|
||
data-pmc-id="PMC5286936"
|
||
data-figure-id="f3-1020282">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-2"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/c7a66b4d6a4b/102282.fig3.gif"
|
||
alt="Figure 3." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="784">
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<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="290">
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<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
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||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Increased numbers of circulating CD34… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 3. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Increased numbers of circulating CD34 positive cells in variant carriers. Flow cytometry analysis… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-2" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 3.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Increased numbers of circulating CD34 positive cells in variant carriers. Flow cytometry analysis of CD34<sup>+</sup> cells. (A) Representative CD34<sup>+</sup>/CD38<sup>+</sup> dot plot of cells from 2 controls and 1 patient (F1-III7). (B) Histograms show the percentage of CD34<sup>+</sup> cells in 8 controls and 5 affected family members (F1-III3, F1-III7, F1-III8, F1-IV1, F1-IV3) (mean ± SEM, student’s <i>t</i>-test, <sup>**</sup><i>P</i><0.01).</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="3"
|
||
data-label-slug="figure-4">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/4614dea83a14/102282.fig4.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-3"
|
||
role="button"
|
||
data-image-width="735"
|
||
data-image-height="674"
|
||
data-image-alt="Figure 4."
|
||
data-pmc-id="PMC5286936"
|
||
data-figure-id="f4-1020282">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-3"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/6f276f621eaf/102282.fig4.gif"
|
||
alt="Figure 4." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="735">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="674">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 4. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Megakaryocyte differentiation and colony-forming cell… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 4. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Megakaryocyte differentiation and colony-forming cell potential. (A–C) <i> In vitro </i> megakaryocyte (MK) differentiation in… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-3" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 4.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Megakaryocyte differentiation and colony-forming cell potential. (A–C) <i>In vitro</i> megakaryocyte (MK) differentiation in control or patient peripheral blood CD34<sup>+</sup> cells, the cells were analyzed at culture day 10. (A) The data show a representative dot plot of CD41 and CD42a expression in Hoechst<sup>+</sup> cells from a control individual and F1-III6. The gate represents mature MKs. (B) The histogram represents the MK (CD41<sup>+</sup>CD42a<sup>+</sup>Hoechst<sup>+</sup>) numbers (nb) in the affected family members (n=9) expressed as fold increase over healthy controls (n=10), student’s <i>t</i>-test, <sup>**</sup><i>P</i><0.01. (C) The ploidy level (N) was analyzed for CD41<sup>+</sup>CD42a<sup>+</sup> MKs, and mean ploidy was calculated using the percentage of cells with 2N, 4N, 8N, 16N and 32N. (D) Methylcellulose assay. The histograms present the number of erythroid (BFU-E), granulo-monocyte (CFU-G/M/GM) and mixed (CFU-GEMM) progenitors from two patients of family F3 with the p.Y401N variant (F3-I2 and F3-II4) and two independent controls. Mean ± SEM, student’s <i>t</i>-test, <sup>*</sup><i>P</i><0.05. (E) Fibrin clot culture. The histograms present the number of MK progenitors (CFU-MK) from two independent controls and two patients (F3-I2 and F3-II4). The CFU-MKs are divided into four categories: <5 MKs per colony, 5–10 MKs per colony, 10–50 MKs per colony or >50 MKs per colony. Error bars represent ± SD of triplicate experiments. (F) Representative pictures of CFU-MKs after CD41 immunostaining. Control 1 and Control 2 represent 2 independent controls, and F3-I2 and F3-II4 are two affected patients. CFU-GEMM: colony-forming unit–granulocyte, erythrocyte, monocyte, megakaryocyte; BFU-E: burst forming unit-erythroid; CFU-G/M/GM: colony-forming unit-granulocytes, macrophages, granulocyte-macrophages; CFU-MK: colony-forming unit-megakaryocyte.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
itemprop="associatedMedia"
|
||
data-slide-index="4"
|
||
data-label-slug="figure-5">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/ffc0aeac643c/102282.fig5.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-4"
|
||
role="button"
|
||
data-image-width="712"
|
||
data-image-height="767"
|
||
data-image-alt="Figure 5."
|
||
data-pmc-id="PMC5286936"
|
||
data-figure-id="f5-1020282">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-4"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/c4c3342695c5/102282.fig5.gif"
|
||
alt="Figure 5." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="712">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="767">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 5. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i> ETV6 </i> variants lead to defective…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 5. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i> ETV6 </i> variants lead to defective proplatelet formation. (A-B) <i> In vitro </i> MK differentiation induced…</div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-4" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 5.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><i>ETV6</i> variants lead to defective proplatelet formation. (A-B) <i>In vitro</i> MK differentiation induced from control or patient peripheral blood CD34<sup>+</sup> progenitors in the presence of TPO and SCF. (A) Representative microscopic images of PPT formation in control (n=2) and patient (F1-III7, F1-III3) MKs after 11 or 13 days of culture. (B) The histograms show the percentage of PPT-bearing MKs from members of 2 families (F1-III3, F1-IV3, F1-III7, F3-I2, F3-II4) and 5 independent controls evaluated (3 to 5 evaluations) between culture days 10 to 15. The percentage of PPT-forming MKs was estimated by counting MKs exhibiting ≥1 cytoplasmic processes with areas of constriction. Double-blinded researchers quantified a total of 300–500 cells. The results are expressed as mean ± SEM, student’s <i>t</i>-test <sup>**</sup><i>P</i><0.01 and <sup>***</sup><i>P</i><0.001. (C) F-actin and β-tubulin staining on PPT-forming MKs from F1-III3 and a control individual, adhering to fibrinogen. Confocal images were acquired at day 12 of culture (x60). (D) <i>In vitro</i> MK differentiation was induced from control peripheral blood CD34<sup>+</sup> progenitors transduced with WT or mut<i>ETV6</i> (family F1, c.641C>T, p.P214L) lentiviral particles in the presence of TPO and SCF. Microscopic images of PPT formation were acquired at days 13 and 15 of culture. PPT: proplatelet; MKs: megakaryocytes; F-actin: filamentous actin.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item "
|
||
itemscope itemtype="http://schema.org/ImageObject"
|
||
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|
||
data-slide-index="5"
|
||
data-label-slug="figure-6">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/91fe38b2a504/102282.fig6.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-5"
|
||
role="button"
|
||
data-image-width="684"
|
||
data-image-height="921"
|
||
data-image-alt="Figure 6."
|
||
data-pmc-id="PMC5286936"
|
||
data-figure-id="f6-1020282">
|
||
<img class="figure-thumb" itemprop="thumbnail"
|
||
id="article-image-5"
|
||
src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/d8daf752d0c6/102282.fig6.gif"
|
||
alt="Figure 6." />
|
||
</a>
|
||
|
||
<meta itemprop="width" itemtype="http://schema.org/ImageObject" content="684">
|
||
<meta itemprop="height" itemtype="http://schema.org/ImageObject" content="921">
|
||
|
||
|
||
<div class="figure-caption figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="caption" aria-hidden="true">
|
||
|
||
<div class="caption-wrap">
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 6. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Rho GTPase expression analysis. (A)… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
</div>
|
||
|
||
<div class="figure-caption-medium figure-caption-text" aria-hidden="true">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
<p> Figure 6. </p>
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents"><p> Rho GTPase expression analysis. (A) Western blot analysis and quantification of CDC42, RAC1… </p></div>
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
<figcaption id="figure-caption-5" class="figure-caption-full figure-caption-text" itemtype="http://schema.org/ImageObject" itemprop="description">
|
||
|
||
|
||
|
||
|
||
|
||
|
||
<strong class="figure-label">
|
||
Figure 6.
|
||
</strong>
|
||
|
||
|
||
|
||
<div class="figure-caption-contents">Rho GTPase expression analysis. (A) Western blot analysis and quantification of CDC42, RAC1 and RHOA expression in platelet lysates from healthy controls (n=7 for CDC42, n=4 for RAC1, n=4 for RHOA) and affected members from F1 (n=6 for CDC42, n=4 for RAC1 and n=5 for RHOA). GAPDH was used as a protein loading control. The results are expressed as mean ± SEM, student’s <i>t</i>-test <sup>*</sup><i>P</i><0.05 and <sup>***</sup><i>P</i><0.001. (B) Quantification of CDC42, RAC1 and RHOA mRNA levels in CD34<sup>+</sup>-derived megakaryocytes (MKs) from healthy controls (n=10) and affected family members from F1 (n=6) and F3 (n=2). mRNA expression levels were measured <i>via</i> reverse transcription polymerase chain reaction (RT-PCR), and expression levels were normalized to housekeeping 36b4 RNA. The results are expressed as mean ± SEM, student’s <i>t</i>-test, <sup>**</sup><i>P</i><0.005. (C) Western blot analysis and quantification of CDC42, RHOA and GAPDH expression in platelets from two affected members of the F3 family (F3-I2 and F3-II4) and a healthy control. (D) <i>In vitro</i> MK differentiation was induced from F1-III7 CD34<sup>+</sup> progenitors transduced with control or CDC42 lentiviral particles in the presence of TPO and SCF. Microscopic images of proplatelet (PPT) formation were acquired at days 14 and 16 of culture. The arrows indicate thinner PPT extensions and swellings in the presence of CDC42. Extensions were enlarged in the control. mRNA: messenger RNA; GAPDH: glyceraldehyde-3-phosphate dehydrogenase; A.U: arbitrary unit.</div>
|
||
|
||
|
||
|
||
|
||
</figcaption>
|
||
|
||
|
||
</figure>
|
||
|
||
<figure class="figure-item tail"
|
||
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|
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|
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|
||
data-label-slug="figure-7">
|
||
<a class="figure-link"
|
||
href="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/b689fde58159/102282.fig7.jpg"
|
||
itemprop="contentUrl"
|
||
aria-describedby="figure-caption-6"
|
||
role="button"
|
||
data-image-width="782"
|
||
data-image-height="824"
|
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data-image-alt="Figure 7."
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data-pmc-id="PMC5286936"
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data-figure-id="f7-1020282">
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<img class="figure-thumb" itemprop="thumbnail"
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id="article-image-6"
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4984/5286936/c8b3aa84543f/102282.fig7.gif"
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alt="Figure 7." />
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<p> Figure 7. </p>
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<div class="figure-caption-contents"><p> Platelet spreading and clot retraction.… </p></div>
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<p> Figure 7. </p>
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<div class="figure-caption-contents"><p> Platelet spreading and clot retraction. (A) Left: Representative images of unstimulated platelets spread… </p></div>
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Figure 7.
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<div class="figure-caption-contents">Platelet spreading and clot retraction. (A) Left: Representative images of unstimulated platelets spread over immobilized fibronectin. Middle: filopodia formation was quantified according to the number of extensions per unstimulated platelet derived from affected individuals (F1-III3, F1-III7) and healthy controls (n=2). Right: Quantification of lamellipodia-forming cells, at resting and ADP-stimulated conditions, from affected members (F1-III7, F1-III8) and healthy controls (n=2). The data are expressed as mean ± SEM of 5 different view fields. Student’s <i>t</i>-test, <sup>***</sup><i>P</i><0.001. (B) Actin polymerization quantification in spread unstimulated platelets. Left: representative images of G-actin, F-actin and the G-actin/F-actin ratio in control platelets and the rare spread platelets detected in F1-III7. Platelets were spread over fibronectin and stimulated with ADP. Right: quantification of the area with the high G-actin/F-actin ratio. Quantification of the ratio was performed according to the look-up table as the percentage of the platelet surface (n=20 different cells; mean ± SEM. Student’s <i>t</i>-test <sup>*</sup><i>P</i><0.05). (C) Clot retraction. Left: representative images at 0, 30 and 50 minutes. Right: quantification of the extent of clot retraction expressed as percentage of the initial clot (mean ± SEM, n=2 for F1-III7 and n=4 for controls. Two-way ANOVA, <sup>***</sup><i>P</i><0.001). F-actin: filamentous actin; G-actin: globular-actin; ADP: adenosine diphosphate; LUT: look-up table.</div>
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<div class="docsum-citation full-citation">
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<span class="docsum-authors full-authors">Noh JY.</span>
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<span class="docsum-authors short-authors">Noh JY.</span>
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<span class="docsum-journal-citation full-journal-citation">Int J Mol Sci. 2021 Sep 5;22(17):9615. doi: 10.3390/ijms22179615.</span>
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<span class="docsum-authors full-authors">Feurstein S, Godley LA.</span>
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<span class="docsum-authors short-authors">Feurstein S, et al.</span>
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<span class="docsum-journal-citation full-journal-citation">Int J Hematol. 2017 Aug;106(2):189-195. doi: 10.1007/s12185-017-2259-4. Epub 2017 May 29.</span>
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<span class="docsum-authors full-authors">Schratz KE, DeZern AE.</span>
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<span class="docsum-journal-citation full-journal-citation">Hematol Oncol Clin North Am. 2020 Apr;34(2):333-356. doi: 10.1016/j.hoc.2019.10.002. Epub 2020 Jan 6.</span>
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Noetzli L, Lo RW, Lee-Sherick AB, et al. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015;47(5):535–538.
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Zhang MY, Churpek JE, Keel SB, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47(2):180–185.
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Rowley JD. The critical role of chromosome translocations in human leukemias. Annu Rev Genet. 1998;32:495–519.
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href="/?term=%22Blood+Platelets%2Fmetabolism%22%5BMAJR%5D&sort=date&sort_order=desc"
|
||
data-href="/?term=%22Blood+Platelets%2Fmetabolism%22%5BMAJR%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Blood Platelets/metabolism"[MAJR]"
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data-ga-action="mesh_term"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Blood+Platelets"
|
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data-ga-action="mesh_term_link"
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
|
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data-search-term=""Blood Platelets/metabolism"[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=""Blood Platelets/metabolism"[MAJR]"
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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"
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aria-label="Toggle dropdown menu for keyword Cell Differentiation"
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aria-controls="keyword-actions-mesh-terms-3"
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aria-expanded="false"
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data-pinger-ignore>
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Cell Differentiation
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</button><div id="keyword-actions-mesh-terms-3"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Cell Differentiation"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Cell+Differentiation%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Cell+Differentiation%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Cell Differentiation"[MeSH]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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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"
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aria-label="Toggle dropdown menu for keyword ETS Translocation Variant 6 Protein"
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aria-expanded="false"
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ETS Translocation Variant 6 Protein
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</button><div id="keyword-actions-mesh-terms-4"
|
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hidden
|
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aria-label="Dropdown menu for keyword ETS Translocation Variant 6 Protein"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="ETS Translocation Variant 6 Protein"[MeSH]"
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Search in PubMed
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""ETS Translocation Variant 6 Protein"[MeSH]"
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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"
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aria-label="Toggle dropdown menu for keyword Family"
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tabindex="0"
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aria-expanded="false"
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Family
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</button><div id="keyword-actions-mesh-terms-5"
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
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aria-label="Dropdown menu for keyword Family"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Family%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Family%22%5BMeSH%5D&sort=date&sort_order=desc"
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Search in PubMed
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Family"[MeSH]"
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data-ga-label=""Family"[MeSH]"
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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"
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aria-label="Toggle dropdown menu for keyword Female"
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aria-expanded="false"
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|
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Female
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</button><div id="keyword-actions-mesh-terms-6"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Female"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Female"[MeSH]"
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Search in PubMed
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Female"[MeSH]"
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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"
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aria-label="Toggle dropdown menu for keyword Gene Expression Regulation"
|
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tabindex="0"
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aria-expanded="false"
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data-pinger-ignore>
|
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Gene Expression Regulation
|
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</button><div id="keyword-actions-mesh-terms-7"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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aria-label="Dropdown menu for keyword Gene Expression Regulation"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Gene+Expression+Regulation%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Gene+Expression+Regulation%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Gene Expression Regulation"[MeSH]"
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Search in PubMed
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Gene Expression Regulation"[MeSH]"
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data-ga-label=""Gene Expression Regulation"[MeSH]"
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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"
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aria-label="Toggle dropdown menu for keyword Genotype"
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-8"
|
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aria-expanded="false"
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data-pinger-ignore>
|
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Genotype
|
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</button><div id="keyword-actions-mesh-terms-8"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Genotype"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Genotype%22%5BMeSH%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Genotype%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Genotype"[MeSH]"
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Search in PubMed
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Genotype"[MeSH]"
|
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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=""Genotype"[MeSH]"
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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 major"
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aria-label="Toggle dropdown menu for keyword Germ-Line Mutation*"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-major-9"
|
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aria-expanded="false"
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data-pinger-ignore>
|
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Germ-Line Mutation*
|
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</button><div id="keyword-actions-mesh-terms-major-9"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Germ-Line Mutation*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Germ-Line+Mutation%22%5BMAJR%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Germ-Line+Mutation%22%5BMAJR%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Germ-Line Mutation"[MAJR]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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ref="linksrc=search_in_mesh_link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Germ-Line Mutation"[MAJR]"
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data-ga-category="search"
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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 major"
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aria-label="Toggle dropdown menu for keyword Hematopoietic Stem Cells / cytology*"
|
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-major-10"
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aria-expanded="false"
|
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data-pinger-ignore>
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Hematopoietic Stem Cells / cytology*
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</button><div id="keyword-actions-mesh-terms-major-10"
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
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aria-label="Dropdown menu for keyword Hematopoietic Stem Cells / cytology*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Hematopoietic+Stem+Cells%2Fcytology%22%5BMAJR%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Hematopoietic+Stem+Cells%2Fcytology%22%5BMAJR%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Hematopoietic Stem Cells/cytology"[MAJR]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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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 major"
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aria-label="Toggle dropdown menu for keyword Hematopoietic Stem Cells / metabolism*"
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tabindex="0"
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data-pinger-ignore>
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Hematopoietic Stem Cells / metabolism*
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</button><div id="keyword-actions-mesh-terms-major-11"
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
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aria-label="Dropdown menu for keyword Hematopoietic Stem Cells / metabolism*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Hematopoietic+Stem+Cells%2Fmetabolism%22%5BMAJR%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Hematopoietic+Stem+Cells%2Fmetabolism%22%5BMAJR%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Hematopoietic Stem Cells/metabolism"[MAJR]"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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Search in MeSH
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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"
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aria-label="Toggle dropdown menu for keyword Humans"
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tabindex="0"
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data-pinger-ignore>
|
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Humans
|
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</button><div id="keyword-actions-mesh-terms-12"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
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hidden
|
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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"
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data-href="/?term=%22Humans%22%5BMeSH%5D&sort=date&sort_order=desc"
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Search in PubMed
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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 Hyperplasia"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-13"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Hyperplasia
|
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</button><div id="keyword-actions-mesh-terms-13"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
||
aria-label="Dropdown menu for keyword Hyperplasia"><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=%22Hyperplasia%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Hyperplasia%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Hyperplasia"[MeSH]"
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data-ga-action="mesh_term"
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data-ga-label="Hyperplasia">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Hyperplasia"
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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data-ga-label="Hyperplasia">
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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role="button"
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data-search-term=""Hyperplasia"[MeSH]"
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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=""Hyperplasia"[MeSH]"
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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"
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aria-label="Toggle dropdown menu for keyword Male"
|
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-14"
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Male
|
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</button><div id="keyword-actions-mesh-terms-14"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Male"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
||
href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Male%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Male"[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="Male">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Male"
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data-ga-category="search_mesh"
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data-ga-label="Male">
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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role="button"
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data-search-term=""Male"[MeSH]"
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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=""Male"[MeSH]"
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href="#">
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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"
|
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aria-label="Toggle dropdown menu for keyword Megakaryocytes / cytology"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-15"
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aria-expanded="false"
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data-pinger-ignore>
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Megakaryocytes / cytology
|
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</button><div id="keyword-actions-mesh-terms-15"
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Megakaryocytes / cytology"><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=%22Megakaryocytes%2Fcytology%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Megakaryocytes%2Fcytology%22%5BMeSH%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Megakaryocytes/cytology"[MeSH]"
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data-ga-action="mesh_term"
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data-ga-label="Megakaryocytes / cytology">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Megakaryocytes"
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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data-search-term=""Megakaryocytes/cytology"[MeSH]"
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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=""Megakaryocytes/cytology"[MeSH]"
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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"
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aria-label="Toggle dropdown menu for keyword Megakaryocytes / metabolism"
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tabindex="0"
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aria-controls="keyword-actions-mesh-terms-16"
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aria-expanded="false"
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data-pinger-ignore>
|
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Megakaryocytes / metabolism
|
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</button><div id="keyword-actions-mesh-terms-16"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Megakaryocytes / metabolism"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Megakaryocytes%2Fmetabolism%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Megakaryocytes%2Fmetabolism%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Megakaryocytes/metabolism"[MeSH]"
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data-ga-action="mesh_term"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Megakaryocytes"
|
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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data-ga-label="Megakaryocytes / metabolism">
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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role="button"
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data-search-term=""Megakaryocytes/metabolism"[MeSH]"
|
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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=""Megakaryocytes/metabolism"[MeSH]"
|
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href="#">
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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"
|
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aria-label="Toggle dropdown menu for keyword Megakaryocytes / pathology"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-17"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Megakaryocytes / pathology
|
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</button><div id="keyword-actions-mesh-terms-17"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Megakaryocytes / 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=%22Megakaryocytes%2Fpathology%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Megakaryocytes%2Fpathology%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Megakaryocytes/pathology"[MeSH]"
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data-ga-action="mesh_term"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Megakaryocytes"
|
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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data-ga-label="Megakaryocytes / pathology">
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
|
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ref="linksrc=add_to_search_link"
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role="button"
|
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data-search-term=""Megakaryocytes/pathology"[MeSH]"
|
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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=""Megakaryocytes/pathology"[MeSH]"
|
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href="#">
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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"
|
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aria-label="Toggle dropdown menu for keyword Pedigree"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-18"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Pedigree
|
||
</button><div id="keyword-actions-mesh-terms-18"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Pedigree"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Pedigree%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Pedigree%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Pedigree"[MeSH]"
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data-ga-category="search"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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ref="linksrc=search_in_mesh_link"
|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Pedigree"
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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data-ga-label="Pedigree">
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Search in MeSH
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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ref="linksrc=add_to_search_link"
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role="button"
|
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data-search-term=""Pedigree"[MeSH]"
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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=""Pedigree"[MeSH]"
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href="#">
|
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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"
|
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aria-label="Toggle dropdown menu for keyword Phenotype"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-19"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Phenotype
|
||
</button><div id="keyword-actions-mesh-terms-19"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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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"
|
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href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Phenotype%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Phenotype"[MeSH]"
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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"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Phenotype"
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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data-ga-label="Phenotype">
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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ref="linksrc=add_to_search_link"
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role="button"
|
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data-search-term=""Phenotype"[MeSH]"
|
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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=""Phenotype"[MeSH]"
|
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href="#">
|
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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"
|
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aria-label="Toggle dropdown menu for keyword Platelet Count"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-20"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Platelet Count
|
||
</button><div id="keyword-actions-mesh-terms-20"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Platelet Count"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Platelet+Count%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Platelet+Count%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Platelet Count"[MeSH]"
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data-ga-label="Platelet Count">
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Platelet+Count"
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data-ga-category="search_mesh"
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data-ga-action="mesh_term_link"
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data-ga-label="Platelet Count">
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
|
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ref="linksrc=add_to_search_link"
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role="button"
|
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data-search-term=""Platelet Count"[MeSH]"
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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=""Platelet Count"[MeSH]"
|
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href="#">
|
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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 major"
|
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aria-label="Toggle dropdown menu for keyword Proto-Oncogene Proteins c-ets / genetics*"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-major-21"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Proto-Oncogene Proteins c-ets / genetics*
|
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</button><div id="keyword-actions-mesh-terms-major-21"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Proto-Oncogene Proteins c-ets / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Proto-Oncogene+Proteins+c-ets%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Proto-Oncogene+Proteins+c-ets%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Proto-Oncogene Proteins c-ets/genetics"[MAJR]"
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data-ga-category="search"
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Search in PubMed
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Proto-Oncogene+Proteins+c-ets"
|
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data-ga-category="search_mesh"
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
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ref="linksrc=add_to_search_link"
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role="button"
|
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data-search-term=""Proto-Oncogene Proteins c-ets/genetics"[MAJR]"
|
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data-ga-category="search"
|
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data-ga-action="add_to_search"
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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"
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aria-label="Toggle dropdown menu for keyword Proto-Oncogene Proteins c-ets / metabolism"
|
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tabindex="0"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Proto-Oncogene Proteins c-ets / metabolism
|
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</button><div id="keyword-actions-mesh-terms-22"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Proto-Oncogene Proteins c-ets / metabolism"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Proto-Oncogene+Proteins+c-ets%2Fmetabolism%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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data-href="/?term=%22Proto-Oncogene+Proteins+c-ets%2Fmetabolism%22%5BMeSH%5D&sort=date&sort_order=desc"
|
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ref="linksrc=search_in_pubmed_keyword_link&mesh="Proto-Oncogene Proteins c-ets/metabolism"[MeSH]"
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data-ga-category="search"
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data-ga-label="Proto-Oncogene Proteins c-ets / metabolism">
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Search in PubMed
|
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</a></li><li><a class="search-in-mesh-link dropdown-block-link"
|
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ref="linksrc=search_in_mesh_link"
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href="https://www.ncbi.nlm.nih.gov/mesh?term=Proto-Oncogene+Proteins+c-ets"
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data-ga-category="search_mesh"
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data-ga-label="Proto-Oncogene Proteins c-ets / metabolism">
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Search in MeSH
|
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</a></li><li><a class="add-to-search-link dropdown-block-link"
|
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ref="linksrc=add_to_search_link"
|
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role="button"
|
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data-search-term=""Proto-Oncogene Proteins c-ets/metabolism"[MeSH]"
|
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data-ga-category="search"
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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 major"
|
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aria-label="Toggle dropdown menu for keyword Repressor Proteins / genetics*"
|
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tabindex="0"
|
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aria-controls="keyword-actions-mesh-terms-major-23"
|
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aria-expanded="false"
|
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data-pinger-ignore>
|
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Repressor Proteins / genetics*
|
||
</button><div id="keyword-actions-mesh-terms-major-23"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
|
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hidden
|
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aria-label="Dropdown menu for keyword Repressor Proteins / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
|
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href="/?term=%22Repressor+Proteins%2Fgenetics%22%5BMAJR%5D&sort=date&sort_order=desc"
|
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Repressor Proteins / metabolism
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