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<meta name="description" content="Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder caused by several distinct defects in genes responsible for ciliary beating, leading to defective mucociliary clearance often associated with randomization of left/right body asymmetry. Individuals with PCD caused by …"><meta name="keywords" content="pmid:25789548, PMC5306451, doi:10.1165/rcmb.2014-0483OC, Adrien Frommer, Rim Hjeij, Heymut Omran, Adolescent, Adult, Child, Child, Preschool, Cytoskeletal Proteins / genetics*, Cytoskeletal Proteins / metabolism, DNA Mutational Analysis, DNA-Binding Proteins / genetics*, DNA-Binding Proteins / metabolism, Female, Fluorescent Antibody Technique, Indirect, Humans, Kartagener Syndrome / diagnosis*, Kartagener Syndrome / genetics, Kartagener Syndrome / metabolism, Male, Mutation, Missense, Protein Multimerization, Proteins / genetics*, Proteins / metabolism, Young Adult, 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="Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects - PubMed"><meta property="og:url" content="https://pubmed.ncbi.nlm.nih.gov/25789548/"><meta property="og:description" content="Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder caused by several distinct defects in genes responsible for ciliary beating, leading to defective mucociliary clearance often associated with randomization of left/right body asymmetry. Individuals with PCD caused by …"><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="Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects - PubMed"><meta name="twitter:url" content="https://pubmed.ncbi.nlm.nih.gov/25789548/"><meta name="twitter:description" content="Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder caused by several distinct defects in genes responsible for ciliary beating, leading to defective mucociliary clearance often associated with randomization of left/right body asymmetry. Individuals with PCD caused by …"><meta name="twitter:image" content="https://cdn.ncbi.nlm.nih.gov/pubmed/persistent/pubmed-meta-image-v2.jpg">
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|
||
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%2F25789548%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%2F25789548%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="PSSknmmPhuwvcgWn13LkfgV4B5S01SHE6FCp0cPbR5jZ6H2dEmomJorI99AcUtfY">
|
||
</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="PSSknmmPhuwvcgWn13LkfgV4B5S01SHE6FCp0cPbR5jZ6H2dEmomJorI99AcUtfY">
|
||
|
||
|
||
|
||
<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="PSSknmmPhuwvcgWn13LkfgV4B5S01SHE6FCp0cPbR5jZ6H2dEmomJorI99AcUtfY">
|
||
|
||
<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: 25789548 - PubMed</span>
|
||
<input type="hidden" name="email-subject" value="1 selected item: 25789548"/>
|
||
<input type="hidden" name="email-subject-hash" value="12212d3be38c2351d7f63e12f1d03e86b424ff795e788296fa18a2c3a2f70bf5"/>
|
||
</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="PSSknmmPhuwvcgWn13LkfgV4B5S01SHE6FCp0cPbR5jZ6H2dEmomJorI99AcUtfY">
|
||
|
||
|
||
|
||
<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="PSSknmmPhuwvcgWn13LkfgV4B5S01SHE6FCp0cPbR5jZ6H2dEmomJorI99AcUtfY">
|
||
|
||
|
||
|
||
<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="PSSknmmPhuwvcgWn13LkfgV4B5S01SHE6FCp0cPbR5jZ6H2dEmomJorI99AcUtfY">
|
||
|
||
<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="PSSknmmPhuwvcgWn13LkfgV4B5S01SHE6FCp0cPbR5jZ6H2dEmomJorI99AcUtfY">
|
||
|
||
|
||
|
||
<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="PSSknmmPhuwvcgWn13LkfgV4B5S01SHE6FCp0cPbR5jZ6H2dEmomJorI99AcUtfY">
|
||
|
||
<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="25789548">
|
||
<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://www.atsjournals.org/doi/10.1165/rcmb.2014-0483OC?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub 0pubmed"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=False&PrId=4487&itool=Abstract-def&log$=linkouticon&uid=25789548&db=pubmed&nlmid=8917225"
|
||
title="See full text options at Atypon"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="Atypon"
|
||
data-ga-label="25789548"
|
||
><img src="https://cdn.ncbi.nlm.nih.gov/corehtml/query/egifs/https:--www.atsjournals.org-pb-assets-images-pubmed-AJRCMB-final.gif" alt="Atypon full text link"><span class="text">
|
||
|
||
Atypon
|
||
|
||
</span></a><a class="link-item
|
||
pmc
|
||
"
|
||
href="https://pmc.ncbi.nlm.nih.gov/articles/pmid/25789548/"
|
||
target="_blank"
|
||
rel="noopener"
|
||
|
||
ref="linksrc=fulltextorjournal_fulltext&is_pmc=True&PrId=3494&itool=Abstract-def&log$=linkouticon&uid=25789548&db=pubmed&nlmid=8917225"
|
||
title="Free full text at PubMed Central"
|
||
|
||
data-ga-category="full_text"
|
||
data-ga-action="PMC"
|
||
data-ga-label="25789548"
|
||
><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="/25789548/citations/"
|
||
data-citation-style="nlm"
|
||
data-pubmed-format-link="/25789548/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="25789548" 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%2F25789548%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="PSSknmmPhuwvcgWn13LkfgV4B5S01SHE6FCp0cPbR5jZ6H2dEmomJorI99AcUtfY"><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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Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
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Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects
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data-ga-label="Adrien Frommer">Adrien Frommer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-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="Rim Hjeij">Rim Hjeij</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
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1
|
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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="Niki T Loges">Niki T Loges</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-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="Christine Edelbusch">Christine Edelbusch</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-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="Charlotte Jahnke">Charlotte Jahnke</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Johanna Raidt">Johanna Raidt</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Claudius Werner">Claudius Werner</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Julia Wallmeier">Julia Wallmeier</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-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="Jörg Große-Onnebrink">Jörg Große-Onnebrink</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
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1
|
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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="Heike Olbrich">Heike Olbrich</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-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="Sandra Cindrić">Sandra Cindrić</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Martine Jaspers">Martine Jaspers</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="2 Department of Otorhinolaryngology, University Hospital Leuven, Leuven, Belgium." href="#short-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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data-ga-label="Mieke Boon">Mieke Boon</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="3 Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Leuven, Belgium." href="#short-view-affiliation-3" ref="linksrc=author_aff">
|
||
3
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Memari+Y&cauthor_id=25789548"
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data-ga-label="Yasin Memari">Yasin Memari</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="4 Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
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4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Richard Durbin">Richard Durbin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="4 Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
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4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Anja Kolb-Kokocinski">Anja Kolb-Kokocinski</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="4 Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom." href="#short-view-affiliation-4" ref="linksrc=author_aff">
|
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4
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Sascha Sauer">Sascha Sauer</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="5 Max-Planck-Institute for Molecular Genetics, Berlin, Germany." href="#short-view-affiliation-5" ref="linksrc=author_aff">
|
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5
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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href="/?term=Marthin+JK&cauthor_id=25789548"
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data-ga-label="June K Marthin">June K Marthin</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="6 Danish Primary Ciliary Dyskinesia (PCD) Centre and Pediatrics Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark." href="#short-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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data-ga-label="Kim G Nielsen">Kim G Nielsen</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="6 Danish Primary Ciliary Dyskinesia (PCD) Centre and Pediatrics Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark." href="#short-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=Amirav+I&cauthor_id=25789548"
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data-ga-label="Israel Amirav">Israel Amirav</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="7 Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada." href="#short-view-affiliation-7" ref="linksrc=author_aff">
|
||
7
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
|
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href="/?term=Elias+N&cauthor_id=25789548"
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data-ga-label="Nael Elias">Nael Elias</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="8 Saint Vincent De-Paul Hospital, Nazareth, Israel." href="#short-view-affiliation-8" ref="linksrc=author_aff">
|
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8
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Eitan Kerem">Eitan Kerem</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="9 Cystic Fibrosis and PCD Center, Hadassah Hebrew University Hospital, Jerusalem, Israel; and." href="#short-view-affiliation-9" ref="linksrc=author_aff">
|
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9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="David Shoseyov">David Shoseyov</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="9 Cystic Fibrosis and PCD Center, Hadassah Hebrew University Hospital, Jerusalem, Israel; and." href="#short-view-affiliation-9" ref="linksrc=author_aff">
|
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9
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Karsten Haeffner">Karsten Haeffner</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="10 Department of Pediatrics, University Hospital Freiburg, Freiburg, Germany." href="#short-view-affiliation-10" ref="linksrc=author_aff">
|
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10
|
||
</a></sup><span class="comma">, </span></span><span class="authors-list-item "><a class="full-name"
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data-ga-label="Heymut Omran">Heymut Omran</a><sup class="affiliation-links"><span class="author-sup-separator"> </span><a class="affiliation-link" title="1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany." href="#short-view-affiliation-1" ref="linksrc=author_aff">
|
||
1
|
||
</a></sup></span>
|
||
</div>
|
||
|
||
|
||
</div>
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||
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|
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|
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|
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|
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|
||
|
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|
||
|
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<div class="affiliations">
|
||
<h3 class="title">
|
||
Affiliations
|
||
</h3>
|
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<ul class="item-list">
|
||
|
||
<li data-affiliation-id="short-view-affiliation-1"
|
||
id="short-view-affiliation-1"
|
||
><sup class="key">1</sup> 1 Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-2"
|
||
id="short-view-affiliation-2"
|
||
><sup class="key">2</sup> 2 Department of Otorhinolaryngology, University Hospital Leuven, Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-3"
|
||
id="short-view-affiliation-3"
|
||
><sup class="key">3</sup> 3 Department of Pediatrics, Pediatric Pulmonology, University Hospital of Leuven, Leuven, Belgium.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-4"
|
||
id="short-view-affiliation-4"
|
||
><sup class="key">4</sup> 4 Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-5"
|
||
id="short-view-affiliation-5"
|
||
><sup class="key">5</sup> 5 Max-Planck-Institute for Molecular Genetics, Berlin, Germany.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-6"
|
||
id="short-view-affiliation-6"
|
||
><sup class="key">6</sup> 6 Danish Primary Ciliary Dyskinesia (PCD) Centre and Pediatrics Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Denmark.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-7"
|
||
id="short-view-affiliation-7"
|
||
><sup class="key">7</sup> 7 Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-8"
|
||
id="short-view-affiliation-8"
|
||
><sup class="key">8</sup> 8 Saint Vincent De-Paul Hospital, Nazareth, Israel.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-9"
|
||
id="short-view-affiliation-9"
|
||
><sup class="key">9</sup> 9 Cystic Fibrosis and PCD Center, Hadassah Hebrew University Hospital, Jerusalem, Israel; and.</li>
|
||
|
||
<li data-affiliation-id="short-view-affiliation-10"
|
||
id="short-view-affiliation-10"
|
||
><sup class="key">10</sup> 10 Department of Pediatrics, University Hospital Freiburg, Freiburg, Germany.</li>
|
||
|
||
</ul>
|
||
</div>
|
||
|
||
|
||
|
||
|
||
|
||
</div>
|
||
|
||
|
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|
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|
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<ul class="identifiers" id="short-view-identifiers">
|
||
|
||
<li>
|
||
<span class="identifier pubmed">
|
||
<span class="id-label">
|
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|
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PMID:
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|
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</span>
|
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|
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<strong class="current-id" title="PubMed ID">25789548</strong>
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</span>
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<li>
|
||
<span class="identifier pmc">
|
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<span class="id-label">
|
||
|
||
PMCID:
|
||
|
||
</span>
|
||
|
||
|
||
<a class="id-link"
|
||
target="_blank"
|
||
rel="noopener"
|
||
ref="linksrc=article_id_link&article_id=PMC5306451&id_type=PMC"
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href="https://pmc.ncbi.nlm.nih.gov/articles/PMC5306451/"
|
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>
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PMC5306451
|
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|
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</span>
|
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|
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</li>
|
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|
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<li>
|
||
<span class="identifier doi">
|
||
<span class="id-label">
|
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|
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DOI:
|
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|
||
</span>
|
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|
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|
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<a class="id-link"
|
||
target="_blank"
|
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rel="noopener"
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ref="linksrc=article_id_link&article_id=10.1165/rcmb.2014-0483OC&id_type=DOI"
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|
||
10.1165/rcmb.2014-0483OC
|
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|
||
|
||
|
||
|
||
</span>
|
||
|
||
</li>
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<p>
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Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder caused by several distinct defects in genes responsible for ciliary beating, leading to defective mucociliary clearance often associated with randomization of left/right body asymmetry. Individuals with PCD caused by defective radial spoke (RS) heads are difficult to diagnose owing to lack of gross ultrastructural defects and absence of situs inversus. Thus far, most mutations identified in human radial spoke genes (RSPH) are loss-of-function mutations, and missense variants have been rarely described. We studied the consequences of different RSPH9, RSPH4A, and RSPH1 mutations on the assembly of the RS complex to improve diagnostics in PCD. We report 21 individuals with PCD (16 families) with biallelic mutations in RSPH9, RSPH4A, and RSPH1, including seven novel mutations comprising missense variants, and performed high-resolution immunofluorescence analysis of human respiratory cilia. Missense variants are frequent genetic defects in PCD with RS defects. Absence of RSPH4A due to mutations in RSPH4A results in deficient axonemal assembly of the RS head components RSPH1 and RSPH9. RSPH1 mutant cilia, lacking RSPH1, fail to assemble RSPH9, whereas RSPH9 mutations result in axonemal absence of RSPH9, but do not affect the assembly of the other head proteins, RSPH1 and RSPH4A. Interestingly, our results were identical in individuals carrying loss-of-function mutations, missense variants, or one amino acid deletion. Immunofluorescence analysis can improve diagnosis of PCD in patients with loss-of-function mutations as well as missense variants. RSPH4A is the core protein of the RS head.
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Keywords:
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cilia; human radial spoke protein 1; human radial spoke protein 4A; human radial spoke protein 9; primary ciliary dyskinesia.
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<p> Figure 1. </p>
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<div class="figure-caption-contents"><p> Model of a ciliary cross-section… </p></div>
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<p> Figure 1. </p>
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<div class="figure-caption-contents"><p> Model of a ciliary cross-section and the radial spoke (RS) complex based on… </p></div>
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Figure 1.
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<div class="figure-caption-contents">Model of a ciliary cross-section and the radial spoke (RS) complex based on immunofluorescence (IF) findings and <i>Chlamydomonas</i> orthology. Ciliary cross-section showing the typical 9 + 2 ultrastructure (<i>A</i>) of nine outer microtubulus doublets arranged around the central pair. Outer dynein arms, inner dynein arms, and RSs emerge from each A-microtubule. As illustrated, the RS complexes connect the outer microtubulus doublets to the central pair. The RS proteins, RSPH9, RSPH4A, and RSPH1, are located in the head complex and arranged in a twofold rotational symmetry, whereas RSPH23 is found in the neck and RSPH3 in the stalk compartment. The location of these proteins is indicated by the numbers 9, 1, 4A, 23, 3 (<i>B</i>). Model of the RS complex was created based on published findings in <i>Chlamydomonas reinhardtii</i> (, , , , –49).</div>
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<p> Figure 2. </p>
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<div class="figure-caption-contents"><p> Western blot analyses of antibodies… </p></div>
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<p> Figure 2. </p>
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<div class="figure-caption-contents"><p> Western blot analyses of antibodies directed against human radial spoke (RSPH) proteins. The… </p></div>
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Figure 2.
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||
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<div class="figure-caption-contents">Western blot analyses of antibodies directed against human radial spoke (RSPH) proteins. The antibodies used in this study, directed against RSPH9 (<i>A</i>), RSPH4A (<i>B</i>), RSPH1 (<i>C</i>), RSPH23 (<i>D</i>), and RSPH3 (<i>E</i>), were validated by Western blot and specifically detect bands with the predicted molecular weight or similar to the predicted molecular weight of the proteins.</div>
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff67/5306451/9b90ae13b903/rcmb.2014-0483OC_f3.gif"
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<p> Figure 3. </p>
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<div class="figure-caption-contents"><p> Loss-of-function mutations in the human… </p></div>
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<p> Figure 3. </p>
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<div class="figure-caption-contents"><p> Loss-of-function mutations in the human radial spoke genes <i> RSPH9 </i> , <i> RSPH4A </i> , and… </p></div>
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Figure 3.
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<div class="figure-caption-contents">Loss-of-function mutations in the human radial spoke genes <i>RSPH9</i>, <i>RSPH4A</i>, and <i>RSPH1</i> disrupt the assembly of the RS head protein, RSPH9. Respiratory epithelial cells from control subjects (<i>A</i>) and individuals affected by primary ciliary dyskinesia (PCD) carrying biallelic loss-of-function mutations in <i>RSPH9</i> (OP-1135 [<i>B</i>]), <i>RSPH4A</i> (OI-162 [<i>C</i>]), or <i>RSPH1</i> (OP-1428 II1 [<i>D</i>]) were double labeled with antibodies directed against acetylated α-tubulin (<i>green</i>) and RSPH9 (<i>red</i>). Both proteins colocalize (<i>yellow</i>) along the ciliary axonemes in cells from the unaffected control subjects (<i>A</i>). In contrast, in respiratory cilia of individuals with loss-of-function mutations in <i>RSPH9</i>, <i>RSPH4A</i>, and <i>RSPH1</i>, RSPH9 is undetectable in ciliary axonemes (<i>B</i>–<i>D</i>), indicating that the ciliary localization of RSPH9 is RSPH4A and RSPH1 dependent. Nuclei were stained with Hoechst 33342 (<i>blue</i>). acet. Tubulin, acetylated α-tubulin; DIC, differential interference contrast.<i> Scale bars</i>, 10 μm.</div>
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src="https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ff67/5306451/0e8ea72673c3/rcmb.2014-0483OC_f4.gif"
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<p> Figure 4. </p>
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<p> Figure 4. </p>
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<div class="figure-caption-contents"><p> Assembly of the RS head protein, RSPH4A, into ciliary axonemes is affected by… </p></div>
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Figure 4.
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<div class="figure-caption-contents">Assembly of the RS head protein, RSPH4A, into ciliary axonemes is affected by loss-of-function mutations in <i>RSPH4A</i> but not by mutations in <i>RSPH1</i> and/or <i>RSPH9</i>. Respiratory epithelial cells from control (<i>A</i>) and individuals affected by PCD carrying biallelic loss-of-function mutations in <i>RSPH9</i> (OP-1135 [<i>B</i>]), <i>RSPH4A</i> (OI-162 [<i>C</i>]), or <i>RSPH1</i> (OP-1428 II1 [<i>D</i>]) were double labeled with antibodies directed against acetylated α-tubulin (<i>green</i>) and RSPH4A (<i>red</i>). Both proteins colocalize (<i>yellow</i>) along the ciliary axonemes in cells from the unaffected control subjects and <i>RSPH9</i> or <i>RSPH1</i> mutant individuals (<i>A</i>, <i>B</i>, and <i>D</i>). In contrast, in respiratory cilia of <i>RSPH4A</i> mutant individuals, RSPH4A is undetectable in the ciliary axonemes (<i>C</i>), indicating that the ciliary localization of RSPH4A is affected by mutations in <i>RSPH4A</i> but not by mutations in <i>RSPH9</i> (<i>B</i>) or <i>RSPH1</i> (<i>D</i>). Nuclei were stained with Hoechst 33342 (<i>blue</i>). <i>Scale bars</i>, 10 μm.</div>
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<p> Figure 5. </p>
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<div class="figure-caption-contents"><i> RSPH4A </i> and <i> RSPH1 </i> loss-of-function mutations…</div>
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<p> Figure 5. </p>
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<div class="figure-caption-contents"><i> RSPH4A </i> and <i> RSPH1 </i> loss-of-function mutations disrupt the assembly of the RS head protein,…</div>
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Figure 5.
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<div class="figure-caption-contents"><i>RSPH4A</i> and <i>RSPH1</i> loss-of-function mutations disrupt the assembly of the RS head protein, RSPH1, whereas mutations in <i>RSPH9</i> do not. Respiratory epithelial cells from control subjects (<i>A</i>) and individuals affected by PCD carrying biallelic loss-of-function mutations in <i>RSPH9</i> (OP-1135 [<i>B</i>]), <i>RSPH4A</i> (OI-162 [<i>C</i>]), or <i>RSPH1</i> (OP-1428 II1 [<i>D</i>]) were double labeled with antibodies directed against acetylated α-tubulin (<i>green</i>) and RSPH1 (<i>red</i>). Both proteins colocalize (<i>yellow</i>) along the ciliary axonemes in cells from the unaffected control subjects and the <i>RSPH9</i> mutant individual (<i>A</i> and <i>B</i>). In contrast, in respiratory cilia of individuals with loss-of-function mutations in <i>RSPH4A</i> or <i>RSPH1</i>, RSPH1 is undetectable in the ciliary axonemes (<i>C</i> and <i>D</i>), indicating that the ciliary localization of RSPH1 is also affected by loss-of-function mutations in <i>RSPH4A</i> but not in <i>RSPH9</i>. Nuclei were stained with Hoechst 33342 (<i>blue</i>). <i>Scale bars</i>, 10 μm.</div>
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<p> Figure 6. </p>
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<div class="figure-caption-contents"><p> Summary of the defects caused… </p></div>
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<strong class="figure-label">
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<p> Figure 6. </p>
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<div class="figure-caption-contents"><p> Summary of the defects caused by mutations in <i> RSPH9 </i> , <i> RSPH4A </i> , and… </p></div>
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Figure 6.
|
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<div class="figure-caption-contents">Summary of the defects caused by mutations in <i>RSPH9</i>, <i>RSPH4A</i>, and <i>RSPH1</i>. Compared with wild-type (WT) RSs (<i>A</i>), mutation of <i>RSPH9</i> solely leads to deficiency of the RSPH9 projection (<i>B</i>). Based on our IF findings, we conclude that deficiency of the RSPH1 projection leads to the lack of RSPH9 and RSPH1 (<i>C</i>), whereas <i>RSPH4A</i> mutants lack the entire head complex, just leaving the neck and stalk unaffected (<i>D</i>). Therefore, we conclude the following ladder of importance for the correct assembly of the RS head, starting with the most significant: RSPH4A, RSPH1, and RSPH9.</div>
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Ibañez-Tallon I, Heintz N, Omran H. To beat or not to beat: roles of cilia in development and disease. Hum Mol Genet. 2003;12:R27–R35.
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Marthin JK, Petersen N, Skovgaard LT, Nielsen KG. Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study. Am J Respir Crit Care Med. 2010;181:1262–1268.
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DNA-Binding Proteins / metabolism
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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"
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aria-label="Dropdown menu for keyword Protein Multimerization"><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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</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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Proteins / genetics*
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hidden
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aria-label="Dropdown menu for keyword Proteins / genetics*"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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Proteins / metabolism
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aria-label="Dropdown menu for keyword Proteins / 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=%22Proteins%2Fmetabolism%22%5BMeSH%5D&sort=date&sort_order=desc"
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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="Dropdown menu for keyword Young Adult"><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=%22Young+Adult%22%5BMeSH%5D&sort=date&sort_order=desc"
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</a></li></ul></div></div></div></li></ul>
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</div>
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|
||
<div id="substances" class="substances keywords-section">
|
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<h2 class="title">
|
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Substances
|
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</h2>
|
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|
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<ul class="keywords-list"><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 Cytoskeletal Proteins"
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tabindex="0"
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Cytoskeletal Proteins
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</button><div id="keyword-actions-substances-0"
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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 Cytoskeletal Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Cytoskeletal+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Cytoskeletal+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&keyword="Cytoskeletal Proteins"[nm]"
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data-search-term=""Cytoskeletal Proteins"[nm]"
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data-ga-category="search"
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data-ga-label=""Cytoskeletal Proteins"[nm]"
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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 DNA-Binding Proteins"
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tabindex="0"
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aria-expanded="false"
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data-pinger-ignore>
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DNA-Binding Proteins
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</button><div id="keyword-actions-substances-1"
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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 DNA-Binding Proteins"><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=%22DNA-Binding+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
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data-href="/?term=%22DNA-Binding+Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
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ref="linksrc=search_in_pubmed_keyword_link&keyword="DNA-Binding Proteins"[nm]"
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Search in PubMed
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data-search-term=""DNA-Binding Proteins"[nm]"
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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"
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aria-label="Toggle dropdown menu for keyword Proteins"
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tabindex="0"
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aria-expanded="false"
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data-pinger-ignore>
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Proteins
|
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</button><div id="keyword-actions-substances-2"
|
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class="keyword-actions-dropdown dropdown dropdown-container"
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aria-label="Dropdown menu for keyword Proteins"><div class="title">Actions</div><div class="content"><ul class="keyword-actions-links"><li><a class="search-in-pubmed-link dropdown-block-link"
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href="/?term=%22Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
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data-href="/?term=%22Proteins%22%5Bnm%5D&sort=date&sort_order=desc"
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Search in PubMed
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Search in MeSH
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