6857 lines
636 KiB
Text
6857 lines
636 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- *134637 - FAS CELL SURFACE DEATH RECEPTOR; FAS
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=134637"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">*134637</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#cloning">Cloning and Expression</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneStructure">Gene Structure</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#mapping">Mapping</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#geneFunction">Gene Function</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#biochemicalFeatures">Biochemical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#animalModel">Animal Model</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#nomenclature">Nomenclature</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
|
|
</li>
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="/allelicVariants/134637">Table View</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000026103;t=ENST00000652046" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=355" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=134637" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000026103;t=ENST00000652046" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000043,NM_001320619,NM_001410956,NM_152871,NM_152872,NR_028033,NR_028034,NR_028035,NR_028036,NR_135313,NR_135314,NR_135315,XM_006717819,XM_011539764,XM_011539765,XM_011539766,XM_047425178,XM_047425179,XM_047425180" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000043" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=134637" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://hprd.org/summary?hprd_id=00609&isoform_id=00609_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.proteinatlas.org/search/FAS" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/protein/28742,119833,182410,695539,695541,695543,887458,1418816,1418818,3128403,3128404,4261992,4433150,4507583,13539239,13539241,13539243,15214692,23510421,23510423,26801146,26801148,26801150,26801152,26801154,38045922,45758812,47496561,62088302,119570532,119570533,119570534,119570535,119570536,119570537,158255392,186703328,209954325,209954327,226427190,227434105,227434107,526482522,526482524,526482526,578819390,767875306,767962785,767962787,767962790,805306022,1002341795,2217277056,2217277058,2217277060,2287780888,2462518973,2462518975,2462518977,2462518979,2462518981,2462518983,2462518985" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.uniprot.org/uniprotkb/P25445" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Gene Info</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="http://biogps.org/#goto=genereport&id=355" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000026103;t=ENST00000652046" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=FAS" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=FAS" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+355" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
<dd><a href="http://v1.marrvel.org/search/gene/FAS" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
|
|
|
|
|
|
|
|
<dd><a href="https://monarchinitiative.org/NCBIGene:355" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/355" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr10&hgg_gene=ENST00000652046.1&hgg_start=88964050&hgg_end=89017059&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:11920" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://medlineplus.gov/genetics/gene/fas" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=134637[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=134637[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000026103" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.ebi.ac.uk/gwas/search?query=FAS" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
|
|
|
|
|
|
|
|
<div><a href="https://www.gwascentral.org/search?q=FAS" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=FAS" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
|
|
<div id="mimLocusSpecificDBsFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="http://research.nhgri.nih.gov/ALPS/" title="Autoimmune Lymphoproliferative Syndrome Database (ALPSbase): Database of mutations causing human ALPS" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Autoimmune Lymphoprolifera…</a></div><div style="margin-left: 0.5em;"><a href="https://research.cchmc.org/LOVD2/home.php?select_db=FAS" title="CCHMC - Human Genetics Mutation Database" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">CCHMC - Human Genetics Mut…</a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=FAS&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.pharmgkb.org/gene/PA36613" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Animal Models</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.alliancegenome.org/gene/HGNC:11920" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mousephenotype.org/data/genes/MGI:95484" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://v1.marrvel.org/search/gene/FAS#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
|
|
|
|
|
|
|
|
|
|
<div><a href="http://www.informatics.jax.org/marker/MGI:95484" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gene/355/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.orthodb.org/?ncbi=355" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://zfin.org/ZDB-GENE-061019-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cellular Pathways</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:355" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://reactome.org/content/query?q=FAS&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Gene description">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
134637
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
FAS CELL SURFACE DEATH RECEPTOR; FAS
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6<br />
|
|
APOPTOSIS ANTIGEN 1; APT1<br />
|
|
FAS ANTIGEN<br />
|
|
SURFACE ANTIGEN APO1; APO1<br />
|
|
CD95
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=FAS" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FAS</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/10/377?start=-3&limit=10&highlight=377">10q23.31</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr10:88964050-89017059&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">10:88,964,050-89,017,059</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=601859,601859," class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/10/377?start=-3&limit=10&highlight=377">
|
|
10q23.31
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Autoimmune lymphoproliferative syndrome}
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/601859"> 601859 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autoimmune lymphoproliferative syndrome, type IA
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/601859"> 601859 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Squamous cell carcinoma, burn scar-related, somatic
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/134637" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/134637" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#24" class="mim-tip-reference" title="Itoh, N., Yonehara, S., Ishii, A., Yonehara, M., Mizushima, S.-I., Sameshima, M., Hase, A., Seto, Y., Nagata, S. <strong>The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis.</strong> Cell 66: 233-243, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1713127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1713127</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90614-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1713127">Itoh et al. (1991)</a> isolated cDNAs encoding the human FAS antigen from a human T-cell lymphoma cDNA library. Sequence analysis predicted a 16-amino acid signal sequence followed by a mature protein of 319 amino acids with a single transmembrane domain and a molecular mass of approximately 36 kD. The FAS antigen shows structural homology with a number of cell surface receptors, including tumor necrosis factor (TNF) receptors (<a href="/entry/191190">191190</a>, <a href="/entry/191191">191191</a>) and the low-affinity nerve growth factor receptor (NGFR; <a href="/entry/162010">162010</a>). Northern blot analysis detected 2.7- and 1.9-kb FAS mRNAs in thymus, liver, ovary, and heart. Functional expression studies in mouse cells showed that the FAS antigen induced antibody-triggered apoptosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1713127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Watanabe-Fukunaga, R., Brannan, C. I., Itoh, N., Yonehara, S., Copeland, N. G., Jenkins, N. A., Nagata, S. <strong>The cDNA structure, expression, and chromosomal assignment of the mouse Fas antigen.</strong> J. Immun. 148: 1274-1279, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1371136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1371136</a>]" pmid="1371136">Watanabe-Fukunaga et al. (1992)</a> isolated mouse Fas antigen from a murine macrophage cDNA library. The deduced 306-amino acid sequence shares 49.3% sequence identity with the human sequence. Northern blot analysis detected a 2.1-kb Fas antigen mRNA in mouse thymus, heart, liver, and ovary. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1371136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#37" class="mim-tip-reference" title="Oehm, A., Behrmann, I., Falk, W., Pawlita, M., Maier, G., Klas, C., Li-Weber, M., Richards, S., Dhein, J., Trauth, B. C., Ponstingl, H., Krammer, P. H. <strong>Purification and molecular cloning of the APO-1 cell surface antigen, a member of the tumor necrosis factor/nerve growth factor receptor superfamily: sequence identity with the FAS antigen.</strong> J. Biol. Chem. 267: 10709-10715, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1375228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1375228</a>]" pmid="1375228">Oehm et al. (1992)</a> demonstrated that the 48-kD APO1 antigen, defined by the mouse monoclonal antibody anti-APO1, is the same as the FAS antigen. APO1 was expressed on the cell surface of various normal and malignant cells, including activated human T and B lymphocytes and a variety of malignant human lymphoid cell lines, and binding of anti-APO1 antibody to the APO1 antigen induced apoptosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1375228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Antisense Transcript SAF</em></strong></p><p>
|
|
<a href="#58" class="mim-tip-reference" title="Yan, M.-D., Hong, C.-C., Lai, G.-M., Cheng, A.-L., Lin, Y.-W., Chuang, S.-E. <strong>Identification and characterization of a novel gene Saf transcribed from the opposite strand of Fas.</strong> Hum. Molec. Genet. 14: 1465-1474, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15829500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15829500</a>] [<a href="https://doi.org/10.1093/hmg/ddi156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15829500">Yan et al. (2005)</a> described a novel RNA transcribed from the opposite strand of intron 1 of the human FAS gene, which they named SAF. The 1.5-kb transcript was expressed in human heart, placenta, liver, muscle, and pancreas, as well as in several cancer cell lines. SAF-transfected Jurkat cells were highly resistant to FAS-mediated but not to TNF-alpha (<a href="/entry/191160">191160</a>)-mediated apoptosis, compared to control transfectants. Although the overall mRNA expression level of FAS was not affected, expression of some novel forms of FAS transcripts was increased in SAF-transfected cells. <a href="#58" class="mim-tip-reference" title="Yan, M.-D., Hong, C.-C., Lai, G.-M., Cheng, A.-L., Lin, Y.-W., Chuang, S.-E. <strong>Identification and characterization of a novel gene Saf transcribed from the opposite strand of Fas.</strong> Hum. Molec. Genet. 14: 1465-1474, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15829500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15829500</a>] [<a href="https://doi.org/10.1093/hmg/ddi156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15829500">Yan et al. (2005)</a> hypothesized that SAF may protect T lymphocytes from FAS-mediated apoptosis by blocking the binding of FASL or its agonistic FAS antibody, and that SAF may regulate expression of FAS alternative splice forms through pre-mRNA processing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15829500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneStructure" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneStructureFold" id="mimGeneStructureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneStructureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneStructureFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#58" class="mim-tip-reference" title="Yan, M.-D., Hong, C.-C., Lai, G.-M., Cheng, A.-L., Lin, Y.-W., Chuang, S.-E. <strong>Identification and characterization of a novel gene Saf transcribed from the opposite strand of Fas.</strong> Hum. Molec. Genet. 14: 1465-1474, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15829500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15829500</a>] [<a href="https://doi.org/10.1093/hmg/ddi156" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15829500">Yan et al. (2005)</a> noted that the TNFRSF6 gene contains 9 exons. They identified an antisense transcript SAF within the 12.1-kb intron 1 that is transcribed in the opposite direction as the TNFRSF6 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15829500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="mapping" class="mim-anchor"></a>
|
|
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#22" class="mim-tip-reference" title="Inazawa, J., Itoh, N., Abe, T., Nagata, S. <strong>Assignment of the human Fas antigen gene (FAS) to 10q24.1.</strong> Genomics 14: 821-822, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1385309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1385309</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80200-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1385309">Inazawa et al. (1992)</a> mapped the human FAS gene to chromosome 10q24.1 by fluorescence in situ hybridization. Using cosmid DNA containing the FAS gene as a probe for fluorescence in situ hybridization, <a href="#32" class="mim-tip-reference" title="Lichter, P., Walczak, H., Weitz, S., Behrmann, I., Krammer, P. H. <strong>The human APO-1 (APT) antigen maps to 10q23, a region that is syntenic with mouse chromosome 19.</strong> Genomics 14: 179-180, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1385299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1385299</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80302-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1385299">Lichter et al. (1992)</a> mapped the FAS gene to a subregion of chromosomal band 10q23; the analysis showed that the FAS gene is located just distal to the central part of band 10q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1385299+1385309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Watanabe-Fukunaga, R., Brannan, C. I., Itoh, N., Yonehara, S., Copeland, N. G., Jenkins, N. A., Nagata, S. <strong>The cDNA structure, expression, and chromosomal assignment of the mouse Fas antigen.</strong> J. Immun. 148: 1274-1279, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1371136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1371136</a>]" pmid="1371136">Watanabe-Fukunaga et al. (1992)</a> mapped the mouse Fas gene to the distal region of chromosome 19. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1371136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="geneFunction" class="mim-anchor"></a>
|
|
<h4 href="#mimGeneFunctionFold" id="mimGeneFunctionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGeneFunctionFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#49" class="mim-tip-reference" title="Talal, N. <strong>Oncogenes, autogenes, and rheumatic diseases.(Editorial)</strong> Arthritis Rheum. 37: 1421-1422, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7945465</a>] [<a href="https://doi.org/10.1002/art.1780371003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7945465">Talal (1994)</a> used the term 'autogene,' a neologism, to refer to a gene whose abnormal function contributes to the development of autoimmune disease; the term is parallel to the term oncogene and the role of its product in malignancy. <a href="#36" class="mim-tip-reference" title="Mountz, J. D., Talal, N. <strong>Retroviruses, apoptosis and autogenes.</strong> Immun. Today 14: 532-536, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8274195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8274195</a>] [<a href="https://doi.org/10.1016/0167-5699(93)90182-K" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8274195">Mountz and Talal (1993)</a> suggested that FAS is the first known autogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7945465+8274195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Dhein, J., Walczak, H., Baumler, C., Debatin, K.-M., Krammer, P. H. <strong>Autocrine T-cell suicide mediated by APO-1/(Fas/CD95).</strong> Nature 373: 438-441, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7530335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7530335</a>] [<a href="https://doi.org/10.1038/373438a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7530335">Dhein et al. (1995)</a> found that T-cell receptor-induced apoptosis was mediated by an APO1 ligand and APO1 in vitro. Apoptosis was significantly reduced by inhibition of anti-APO1 antibodies. <a href="#5" class="mim-tip-reference" title="Brunner, T., Mogil, R. J., LaFace, D., Yoo, N. J., Mahboubi, A., Echeverri, F., Martin, S. J., Force, W. R., Lynch, D. H., Ware, C. F., Green, D. R. <strong>Cell-autonomous Fas (CD95)/Fas-ligand interaction mediates activation-induced apoptosis in T-cell hybridomas.</strong> Nature 373: 441-444, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7530336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7530336</a>] [<a href="https://doi.org/10.1038/373441a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7530336">Brunner et al. (1995)</a> showed that the Fas antigen receptor was rapidly expressed on T cells following activation of T-cell hybridomas, and that the interaction between FAS and FAS ligand (FASL, CD95L, or TNFSF6; <a href="/entry/134638">134638</a>) induced cell death in a cell-autonomous manner consistent with apoptosis. Interference with the FAS/FASL interaction inhibited activation-induced apoptosis. <a href="#27" class="mim-tip-reference" title="Ju, S.-T., Panka, D. J., Cui, H., Ettinger, R., El-Khatib, M., Sherr, D. H., Stanger, B. Z., Marshak-Rothstein, A. <strong>Fas(CD95)/FasL interactions required for programmed cell death after T-cell activation.</strong> Nature 373: 444-448, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7530337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7530337</a>] [<a href="https://doi.org/10.1038/373444a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7530337">Ju et al. (1995)</a> also showed that the interaction between FAS and FASL results in activation-induced T-cell death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7530335+7530336+7530337" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#52" class="mim-tip-reference" title="Viard, I., Wehrli, P., Bullani, R., Schneider, P., Holler, N., Salomon, D., Hunziker, T., Saurat, J.-H., Tschopp, J., French, L. E. <strong>Inhibition of toxic epidermal necrolysis by blockade of CD95 with human intravenous immunoglobulin.</strong> Science 282: 490-493, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9774279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9774279</a>] [<a href="https://doi.org/10.1126/science.282.5388.490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9774279">Viard et al. (1998)</a> detected high levels of soluble FASL in the sera of patients with toxic epidermal necrolysis (TEN; <a href="/entry/608579">608579</a>). Keratinocytes of TEN patients produced FASL, which induced keratinic apoptosis. In vitro, intravenous immunoglobulin (IVIG) completely inhibited FAS-mediated keratinocyte apoptosis, and in vivo, 10 TEN patients treated with IVIG showed rapid improvement in skin disease. The authors noted that a naturally occurring anti-FAS immunoglobulin present in IVIG blocked the FAS receptor and mediated this response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9774279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Hueber, A.-O., Zornig, M., Lyon, D., Suda, T., Nagata, S., Evan, G. I. <strong>Requirement for the CD95 receptor-ligand pathway in c-Myc-induced apoptosis.</strong> Science 278: 1305-1309, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9360929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9360929</a>] [<a href="https://doi.org/10.1126/science.278.5341.1305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9360929">Hueber et al. (1997)</a> demonstrated that MYC (<a href="/entry/190080">190080</a>)-induced apoptosis required interaction on the cell surface between CD95 and its ligand. The findings linked 2 apoptotic pathways previously thought to be independent and established the dependence of MYC on CD95 signaling for its killing activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9360929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#38" class="mim-tip-reference" title="Pestano, G. A., Zhou, Y., Trimble, L. A., Daley, J., Weber, G. F., Cantor, H. <strong>Inactivation of misselected CD8 T cells by CD8 gene methylation and cell death.</strong> Science 284: 1187-1191, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10325233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10325233</a>] [<a href="https://doi.org/10.1126/science.284.5417.1187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10325233">Pestano et al. (1999)</a> identified a differentiative pathway taken by CD8 cells bearing receptors that cannot engage class I MHC (see <a href="/entry/142800">142800</a>) self-peptide molecules because of incorrect thymic selection, defects in peripheral MHC class I expression, or antigen presentation. In any of these cases, failed CD8 T-cell receptor coengagement results in downregulation of genes that account for specialized cytolytic T-lymphocyte function and resistance to cell death (CD8-alpha/beta, see <a href="/entry/186730">186730</a>; granzyme B, <a href="/entry/123910">123910</a>; and LKLF, <a href="/entry/602016">602016</a>), and upregulation of FAS and FASL death genes. Thus, MHC engagement is required to inhibit expression and delivery of a death program rather than to supply a putative trophic factor for T cell survival. <a href="#38" class="mim-tip-reference" title="Pestano, G. A., Zhou, Y., Trimble, L. A., Daley, J., Weber, G. F., Cantor, H. <strong>Inactivation of misselected CD8 T cells by CD8 gene methylation and cell death.</strong> Science 284: 1187-1191, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10325233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10325233</a>] [<a href="https://doi.org/10.1126/science.284.5417.1187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10325233">Pestano et al. (1999)</a> hypothesized that defects in delivery of the death signal to these aberrant T cells underlie the explosive growth and accumulation of double-negative T cells in animals bearing FAS and FASL mutations, in patients who carry inherited mutations of these genes, and in about 25% of systemic lupus erythematosus patients who display the cellular signature of defects in this mechanism of quality control of CD8 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10325233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Mannick, J. B., Hausladen, A., Liu, L., Hess, D. T., Zeng, M., Miao, Q. X., Kane, L. S., Gow, A. J., Stamler, J. S. <strong>Fas-induced caspase denitrosylation.</strong> Science 284: 651-654, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213689</a>] [<a href="https://doi.org/10.1126/science.284.5414.651" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10213689">Mannick et al. (1999)</a> demonstrated that FAS activates caspase-3 (<a href="/entry/600636">600636</a>) by inducing the cleavage of the caspase zymogen to its active subunits and by stimulating the denitrosylation of its active site thiol. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10213689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Hueber, A.-O. <strong>CD95: more than just a death factor?</strong> Nature Cell Biol. 2: E23-E25, 2000. Note: Erratum: Nature Cell Biol. 2: E50, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655597</a>] [<a href="https://doi.org/10.1038/35000092" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655597">Hueber (2000)</a> described the signaling pathway leading to apoptosis. FAS (CD95) crosslinking with FAS ligand (CD95L) results in the formation of a death-inducing signaling complex (DISC) composed of CD95, the signal adaptor protein FADD (<a href="/entry/602457">602457</a>), and procaspase-8. This association generates CASP8 (<a href="/entry/601763">601763</a>), activating a cascade of caspases. <a href="#31" class="mim-tip-reference" title="Lepple-Wienhues, A., Belka, C., Laun, T., Jekle, A., Walter, B., Wieland, U., Welz, M., Heil, L., Kun, J., Busch, G., Weller, M., Bamberg, M., Gulbins, E., Lang, F. <strong>Stimulation of CD95 (Fas) blocks T lymphocyte calcium channels through sphingomyelinase and sphingolipids.</strong> Proc. Nat. Acad. Sci. 96: 13795-13800, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10570152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10570152</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10570152[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.24.13795" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10570152">Lepple-Wienhues et al. (1999)</a> showed that in addition to the role of CD95 in inducing cell death, stimulation of CD95 inhibits the influx of calcium normally induced by activation of the T-cell antigen receptor, in part by not affecting the release of calcium from intracellular stores. This block in calcium entry can be mimicked by stimulating T cells with acid sphingomyelinase metabolites of the plasma membrane lipid sphingomyelin, such as ceramide and sphingosine. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10655597+10570152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Arscott, P. L., Stokes, T., Myc, A., Giordano, T. J., Thompson, N. W., Baker, J. R., Jr. <strong>Fas (CD95) expression is up-regulated on papillary thyroid carcinoma.</strong> J. Clin. Endocr. Metab. 84: 4246-4252, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10566680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10566680</a>] [<a href="https://doi.org/10.1210/jcem.84.11.6139" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10566680">Arscott et al. (1999)</a> examined FAS expression in thyroid tissue derived from patients with papillary carcinoma and follicular cancer. More intense immunohistologic staining for the FAS protein was observed on papillary cancer cells as compared with adjacent normal follicles. FAS expression was detected at levels up to 3-fold higher in cancerous thyrocytes compared with paired normal cells. The authors concluded that the FAS antigen is expressed and functional on papillary thyroid cancer cells and that this may have potential therapeutic significance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10566680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Grassme, H., Kirschnek, S., Riethmueller, J., Riehle, A., von Kurthy, G., Lang, F., Weller, M., Gulbins, E. <strong>CD95/CD95 ligand interactions on epithelial cells in host defense to Pseudomonas aeruginosa.</strong> Science 290: 527-530, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11039936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11039936</a>] [<a href="https://doi.org/10.1126/science.290.5491.527" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11039936">Grassme et al. (2000)</a> showed that Pseudomonas aeruginosa infection induced apoptosis of lung epithelial cells by activation of the endogenous CD95/CD95L system. Deficiency of CD95 or CD95L on epithelial cells prevented apoptosis of lung epithelial cells in vivo as well as in vitro. The importance of CD95/CD95L-mediated lung epithelial cell apoptosis was demonstrated by the rapid development of sepsis in mice deficient in either CD95 or CD95L, but not in normal mice, after P. aeruginosa infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11039936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Natural inhibitors of angiogenesis are able to block pathologic neovascularization without harming the preexisting vasculature. <a href="#53" class="mim-tip-reference" title="Volpert, O. V., Zaichuk, T., Zhou, W., Reiher, F., Ferguson, T. A., Stuart, P. M., Amin, M., Bouck, N. P. <strong>Inducer-stimulated Fas targets activated endothelium for destruction by anti-angiogenic thrombospondin-1 and pigment epithelium-derived factor.</strong> Nature Med. 8: 349-357, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11927940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11927940</a>] [<a href="https://doi.org/10.1038/nm0402-349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11927940">Volpert et al. (2002)</a> demonstrated that 2 such inhibitors, thrombospondin I (<a href="/entry/188060">188060</a>) and pigment epithelium-derived factor (<a href="/entry/172860">172860</a>), induced FAS/FASL-mediated apoptosis to block angiogenesis. Both inhibitors upregulated FASL on endothelial cells. Expression of FAS antigen on endothelial cells and vessels was greatly enhanced by inducers of angiogenesis, thereby specifically sensitizing the stimulated cells to apoptosis by inhibitor-generated FASL. The antiangiogenic activity of thrombospondin I and pigment epithelium-derived factor both in vitro and in vivo was dependent on this dual induction of FAS and FASL and the resulting apoptosis. <a href="#53" class="mim-tip-reference" title="Volpert, O. V., Zaichuk, T., Zhou, W., Reiher, F., Ferguson, T. A., Stuart, P. M., Amin, M., Bouck, N. P. <strong>Inducer-stimulated Fas targets activated endothelium for destruction by anti-angiogenic thrombospondin-1 and pigment epithelium-derived factor.</strong> Nature Med. 8: 349-357, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11927940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11927940</a>] [<a href="https://doi.org/10.1038/nm0402-349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11927940">Volpert et al. (2002)</a> concluded that this example of cooperation between pro- and antiangiogenic factors in the inhibition of angiogenesis provided one explanation for the ability of inhibitors to select remodeling capillaries for destruction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11927940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#41" class="mim-tip-reference" title="Raoul, C., Estevez, A. G., Nishimune, H., Cleveland, D. W., deLapeyriere, O., Henderson, C. E., Hasse, G., Pettmann, B. <strong>Motoneuron death triggered by a specific pathway downstream of Fas: potentiation by ALS-linked SOD1 mutations.</strong> Neuron 35: 1067-1083, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12354397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12354397</a>] [<a href="https://doi.org/10.1016/s0896-6273(02)00905-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12354397">Raoul et al. (2002)</a> showed that FAS triggers cell death specifically in motor neurons by transcriptional upregulation of neuronal nitric oxide synthase (nNOS; <a href="/entry/163731">163731</a>) mediated by p38 kinase (<a href="/entry/600289">600289</a>). ASK1 (<a href="/entry/602448">602448</a>) and Daxx (<a href="/entry/603186">603186</a>) act upstream of p38 in the FAS signaling pathway. The authors also showed that synergistic activation of the NO pathway and the classic FADD/CASP8 pathway were needed for motor neuron cell death. No evidence for involvement of the FAS/NO pathway was found in other cell types. Motor neurons from transgenic mice expressing amyotrophic lateral sclerosis (ALS; <a href="/entry/105400">105400</a>)-linked SOD1 (<a href="/entry/147450">147450</a>) mutations displayed increased susceptibility to activation of the FAS/NO pathway. <a href="#41" class="mim-tip-reference" title="Raoul, C., Estevez, A. G., Nishimune, H., Cleveland, D. W., deLapeyriere, O., Henderson, C. E., Hasse, G., Pettmann, B. <strong>Motoneuron death triggered by a specific pathway downstream of Fas: potentiation by ALS-linked SOD1 mutations.</strong> Neuron 35: 1067-1083, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12354397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12354397</a>] [<a href="https://doi.org/10.1016/s0896-6273(02)00905-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12354397">Raoul et al. (2002)</a> emphasized that this signaling pathway was unique to motor neurons and suggested that these cell pathways may contribute to motor neuron loss in ALS. <a href="#40" class="mim-tip-reference" title="Raoul, C., Buhler, E., Sadeghi, C., Jacquier, A., Aebischer, P., Pettmann, B., Henderson, C. E., Haase, G. <strong>Chronic activation in presymptomatic amyotrophic lateral sclerosis (ALS) mice of a feedback loop involving Fas, Daxx, and FasL.</strong> Proc. Nat. Acad. Sci. 103: 6007-6012, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16581901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16581901</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16581901[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0508774103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16581901">Raoul et al. (2006)</a> reported that exogenous NO triggered expression of FASL in cultured motoneurons. In motoneurons from ALS model mice with mutations in the SOD1 gene, this upregulation resulted in activation of Fas, leading through Daxx and p38 to further NO synthesis. The authors suggested that chronic low-activation of this feedback loop may underlie the slowly progressive motoneuron loss characteristic of ALS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12354397+16581901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using mouse primary neurons and a human neuroblastoma cell line, <a href="#9" class="mim-tip-reference" title="Desbarats, J., Birge, R. B., Mimouni-Rongy, M., Weinstein, D. E., Palerme, J.-S., Newell, M. K. <strong>Fas engagement induces neurite growth through ERK activation and p35 upregulation.</strong> Nature Cell Biol. 5: 118-125, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12545171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12545171</a>] [<a href="https://doi.org/10.1038/ncb916" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12545171">Desbarats et al. (2003)</a> determined that FAS can mediate neurite growth. Activation of FAS resulted in axon regeneration in primary neurons and accelerated functional recovery after sciatic nerve injury in vivo. <a href="#9" class="mim-tip-reference" title="Desbarats, J., Birge, R. B., Mimouni-Rongy, M., Weinstein, D. E., Palerme, J.-S., Newell, M. K. <strong>Fas engagement induces neurite growth through ERK activation and p35 upregulation.</strong> Nature Cell Biol. 5: 118-125, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12545171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12545171</a>] [<a href="https://doi.org/10.1038/ncb916" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12545171">Desbarats et al. (2003)</a> determined that activation triggered a nerve growth factor (<a href="/entry/162030">162030</a>)-independent signaling pathway that included activation of ERK (see <a href="/entry/176872">176872</a>) and the expression of p35 (<a href="/entry/603460">603460</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12545171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#60" class="mim-tip-reference" title="Zou, C., Ma, J., Wang, X., Guo, L., Zhu, Z., Stoops, J., Eaker, A. E., Johnson, C. J., Strom, S., Michalopoulos, G. K., DeFrances, M. C., Zarnegar, R. <strong>Lack of Fas antagonism by Met in human fatty liver disease.</strong> Nature Med. 13: 1078-1085, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17704785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17704785</a>] [<a href="https://doi.org/10.1038/nm1625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17704785">Zou et al. (2007)</a> reported that the hepatocyte growth factor receptor MET (<a href="/entry/164860">164860</a>) plays an important part in preventing FAS-mediated apoptosis of hepatocytes by sequestering FAS. They also showed that FAS antagonism by MET is abrogated in human fatty liver disease. Through structure-function studies, the authors found that a YLGA amino acid motif located near the extracellular N terminus of the MET alpha subunit is necessary and sufficient to specifically bind the extracellular portion of FAS and to act as a potential FAS ligand (FASL; <a href="/entry/134638">134638</a>) antagonist and inhibitor of FAS trimerization. Using mouse models of fatty liver disease, <a href="#60" class="mim-tip-reference" title="Zou, C., Ma, J., Wang, X., Guo, L., Zhu, Z., Stoops, J., Eaker, A. E., Johnson, C. J., Strom, S., Michalopoulos, G. K., DeFrances, M. C., Zarnegar, R. <strong>Lack of Fas antagonism by Met in human fatty liver disease.</strong> Nature Med. 13: 1078-1085, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17704785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17704785</a>] [<a href="https://doi.org/10.1038/nm1625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17704785">Zou et al. (2007)</a> showed that synthetic YLGA peptide tempers hepatocyte apoptosis and liver damage and therefore has therapeutic potential. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17704785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>As summarized by <a href="#26" class="mim-tip-reference" title="Jost, P. J., Grabow, S., Gray, D., McKenzie, M. D., Nachbur, U., Huang, D. C. S., Bouillet, P., Thomas, H. E., Borner, C., Silke, J., Strasser, A., Kaufmann, T. <strong>XIAP discriminates between type I and type II FAS-induced apoptosis.</strong> Nature 460: 1035-1039, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19626005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19626005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19626005[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19626005">Jost et al. (2009)</a>, distinct cell types differ in the mechanisms by which the 'death receptor' FAS triggers their apoptosis. In type I cells, such as lymphocytes, activation of effector caspases by FAS-induced activation of caspase-8 (<a href="/entry/601763">601763</a>) suffices for cell killing; in type II cells, including hepatocytes and pancreatic beta-cells, caspase cascade amplification through caspase-8-mediated activation of the proapoptotic BID (<a href="/entry/601197">601197</a>) is essential. <a href="#26" class="mim-tip-reference" title="Jost, P. J., Grabow, S., Gray, D., McKenzie, M. D., Nachbur, U., Huang, D. C. S., Bouillet, P., Thomas, H. E., Borner, C., Silke, J., Strasser, A., Kaufmann, T. <strong>XIAP discriminates between type I and type II FAS-induced apoptosis.</strong> Nature 460: 1035-1039, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19626005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19626005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19626005[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19626005">Jost et al. (2009)</a> demonstrated that loss of XIAP (<a href="/entry/300079">300079</a>) function by gene targeting or treatment with a DIABLO (<a href="/entry/605219">605219</a>) mimetic drug in mice rendered hepatocytes and beta-cells independent of BID for FAS-induced apoptosis. <a href="#26" class="mim-tip-reference" title="Jost, P. J., Grabow, S., Gray, D., McKenzie, M. D., Nachbur, U., Huang, D. C. S., Bouillet, P., Thomas, H. E., Borner, C., Silke, J., Strasser, A., Kaufmann, T. <strong>XIAP discriminates between type I and type II FAS-induced apoptosis.</strong> Nature 460: 1035-1039, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19626005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19626005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19626005[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08229" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19626005">Jost et al. (2009)</a> concluded that their results showed that XIAP is the critical discriminator between type I and type II apoptosis signaling and suggested that IAP inhibitors should be used with caution in cancer patients with underlying liver conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19626005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Chen, L., Park, S.-M., Tumanov, A. V., Hau, A., Sawada, K., Feig, C., Turner, J. R., Fu, Y.-X., Romero, I. L., Lengyel, E., Peter, M. E. <strong>CD95 promotes tumour growth.</strong> Nature 465: 492-496, 2010. Note: Erratum: Nature 471: 254 only, 2011. Erratum: Nature 475: 254 only, 2011. Erratum: Nature 491: 784 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20505730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20505730</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20505730[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09075" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20505730">Chen et al. (2010)</a> demonstrated that cancer cells in general, regardless of their CD95 apoptosis sensitivity, depend on constitutive activity of CD95, stimulated by a cancer-produced CD95L (<a href="/entry/134638">134638</a>), for optimal growth. Consistently, loss of CD95 in mouse models of ovarian cancer and liver cancer reduces cancer incidence as well as the size of the tumors. The tumorigenic activity of CD95 is mediated by a pathway involving JNK (<a href="/entry/601158">601158</a>) and JUN (<a href="/entry/165160">165160</a>). These results demonstrated that CD95 has a growth-promoting role during tumorigenesis and indicated that efforts to inhibit its activity should be considered during cancer therapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20505730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="biochemicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimBiochemicalFeaturesFold" id="mimBiochemicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimBiochemicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimBiochemicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Crystal Structure</em></strong></p><p>
|
|
FAS, FADD (<a href="/entry/602457">602457</a>), and caspase-8 (CASP8; <a href="/entry/601763">601763</a>) form a death-inducing signaling complex (DISC) that is a pivotal trigger of apoptosis. <a href="#45" class="mim-tip-reference" title="Scott, F. L., Stec, B., Pop, C., Dobaczewska, M. K., Lee, J. J., Monosov, E., Robinson, H., Salvesen, G. S., Schwarzenbacher, R., Riedl, S. J. <strong>The Fas-FADD death domain complex structure unravels signalling by receptor clustering.</strong> Nature 457: 1019-1022, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118384</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118384[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118384">Scott et al. (2009)</a> successfully formed and isolated the human FAS-FADD death domain complex and reported the 2.7-angstrom crystal structure. The complex shows a tetrameric arrangement of 4 FADD death domains bound to 4 FAS death domains. <a href="#45" class="mim-tip-reference" title="Scott, F. L., Stec, B., Pop, C., Dobaczewska, M. K., Lee, J. J., Monosov, E., Robinson, H., Salvesen, G. S., Schwarzenbacher, R., Riedl, S. J. <strong>The Fas-FADD death domain complex structure unravels signalling by receptor clustering.</strong> Nature 457: 1019-1022, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118384</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118384[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118384">Scott et al. (2009)</a> showed that an opening of the FAS death domain exposes the FADD binding site and simultaneously generates a FAS-FAS bridge. The result is a regulatory FAS-FADD complex bridge governed by weak protein-protein interactions revealing a model where the complex itself functions as a mechanistic switch. This switch prevents accidental DISC assembly, yet allows for highly processive DISC formation and clustering upon a sufficient stimulus. <a href="#45" class="mim-tip-reference" title="Scott, F. L., Stec, B., Pop, C., Dobaczewska, M. K., Lee, J. J., Monosov, E., Robinson, H., Salvesen, G. S., Schwarzenbacher, R., Riedl, S. J. <strong>The Fas-FADD death domain complex structure unravels signalling by receptor clustering.</strong> Nature 457: 1019-1022, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118384</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118384[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature07606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19118384">Scott et al. (2009)</a> concluded that, in addition to depicting a previously unknown mode of death domain interactions, their results further uncovered a mechanism for receptor signaling solely by oligomerization and clustering events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In 5 unrelated children with a rare autoimmune lymphoproliferative syndrome (ALPS; <a href="/entry/601859">601859</a>) <a href="#15" class="mim-tip-reference" title="Fisher, G. H., Rosenberg, F. J., Straus, S. E., Dale, J. K., Middelton, L. A., Lin, A. Y., Strober, W., Lenardo, M. J., Puck, J. M. <strong>Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.</strong> Cell 81: 935-946, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7540117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7540117</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90013-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7540117">Fisher et al. (1995)</a> identified a heterozygous mutation in the FAS antigen gene (<a href="#0001">134637.0001</a>-<a href="#0005">134637.0005</a>). The disorder was characterized by massive nonmalignant lymphadenopathy, autoimmune phenomena, and expanded populations of TCR-CD3(+)CD4(-)CD8(-) lymphocytes, and each child had defective FAS-mediated T-lymphocyte apoptosis in vitro. One mutation appeared to cause a simple loss of function (<a href="#0001">134637.0001</a>); however, 4 others had a dominant-negative phenotype when coexpressed with normal FAS. One of the patients studied by <a href="#15" class="mim-tip-reference" title="Fisher, G. H., Rosenberg, F. J., Straus, S. E., Dale, J. K., Middelton, L. A., Lin, A. Y., Strober, W., Lenardo, M. J., Puck, J. M. <strong>Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.</strong> Cell 81: 935-946, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7540117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7540117</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90013-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7540117">Fisher et al. (1995)</a> was included in the report by <a href="#47" class="mim-tip-reference" title="Sneller, M. C., Straus, S. E., Jaffe, E. S., Jaffe, J. S., Fleisher, T. A., Stetler-Stevenson, M., Strober, W. <strong>A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease.</strong> J. Clin. Invest. 90: 334-341, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1386609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1386609</a>] [<a href="https://doi.org/10.1172/JCI115867" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1386609">Sneller et al. (1992)</a>, delineating this disorder and pointing out its resemblance to autosomal recessive lpr/gld disease in the mouse. The lpr and gld mice bear mutated genes for CD95 and CD95 ligand, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1386609+7540117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="Rieux-Laucat, F., Le Deist, F., Hivroz, C., Roberts, I. A. G., Debatin, K. M., Fischer, A., de Villartay, J. P. <strong>Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.</strong> Science 268: 1347-1349, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539157</a>] [<a href="https://doi.org/10.1126/science.7539157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539157">Rieux-Laucat et al. (1995)</a> analyzed expression of the FAS antigen and its function in 3 children with a lymphoproliferative syndrome, 2 of whom also had autoimmune disorders. The most severely affected patient had a large deletion in the FAS gene and no detectable cell surface expression. Clinical manifestations in the other 2 patients were less severe: FAS-mediated apoptosis was impaired and a deletion within the intracytoplasmic domain was detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Aspinall, A. I., Pinto, A., Auer, I. A., Bridges, P., Luider, J., Dimnik, L., Patel, K. D., Jorgenson, K., Woodman, R. C. <strong>Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.</strong> Blood Cells Molec. Dis. 25: 227-238, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10575548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10575548</a>] [<a href="https://doi.org/10.1006/bcmd.1999.0248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10575548">Aspinall et al. (1999)</a> identified 2 novel mutations in FAS that cause ALPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10575548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Holzelova, E., Vonarbourg, C., Stolzenberg, M.-C., Arkwright, P. D., Selz, F., Prieur, A.-M., Blanche, S., Bartunkova, J., Vilmer, E., Fischer, A., Le Deist, F., Rieux-Laucat, F. <strong>Autoimmune lymphoproliferative syndrome with somatic Fas mutations.</strong> New Eng. J. Med. 351: 1409-1418, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15459302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15459302</a>] [<a href="https://doi.org/10.1056/NEJMoa040036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15459302">Holzelova et al. (2004)</a> reported 6 children with type III ALPS, defined as having phenotypic features of ALPS, including elevated numbers of double-negative T cells and hypergammaglobulinemia, but normal FAS-mediated apoptosis of T cells in vitro. Double-negative T cells from all 6 patients showed heterozygous mutations in the FAS gene (see, e.g., <a href="#0018">134637.0018</a>). In 2 affected patients, FAS mutations were found in a fraction of CD4+ and CD8+ T cells, monocytes, and CD34+ hematopoietic precursors, but not in hair or mucosal epithelial cells, demonstrating somatic mosaicism. The study demonstrated that peripheral lymphocytes with a dominant somatic FAS mutation exhibit a selective advantage by resisting apoptosis, thus accumulating and becoming double-negative T cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15459302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Clementi, R., Dagna, L., Dianzani, U., Dupre, L., Dianzani, I., Ponzoni, M., Cometa, A., Chiocchetti, A., Sabbadini, M. G., Rugarli, C., Ciceri, F., Maccario, R., Locatelli, F., Danesino, C., Ferrarini, M., Bregni, M. <strong>Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.</strong> New Eng. J. Med. 351: 1419-1424, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15459303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15459303</a>] [<a href="https://doi.org/10.1056/NEJMoa041432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15459303">Clementi et al. (2004)</a> reported a 27-year-old man with ALPS who developed a large B-cell lymphoma. Genetic analysis identified a heterozygous mutation in the FAS gene and another in the perforin gene (PRF1; <a href="/entry/170280">170280</a>). The FAS mutation was inherited from his healthy father and was also carried by his healthy brother, whereas the PRF1 mutation was inherited from his healthy mother. The authors concluded that the combined effect of the 2 mutant genes contributed to the development of ALPS and lymphoma in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15459303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Dowdell, K. C., Niemela, J. E., Price, S., Davis, J., Hornung, R. L., Oliveira, J. B., Puck, J. M., Jaffe, E. S., Pittaluga, S., Cohen, J. I., Fleisher, T. A., Rao, V. K. <strong>Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.</strong> Blood 115: 5164-5169, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20360470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20360470</a>] [<a href="https://doi.org/10.1182/blood-2010-01-263145" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20360470">Dowdell et al. (2010)</a> found that 12 (38.7%) of 31 ALPS patients who were negative for germline FAS mutations carried heterozygous somatic FAS mutations in their double-negative T cells. All of the 12 somatic mutations resulted in known or predicted functional loss of normal FAS signaling; 10 mutations led to a premature stop codon. Patients with somatic FAS mutations were clinically similar to those with germline FAS mutations, although they had a slightly lower incidence of splenectomy and lower lymphocyte counts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20360470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Role in Neoplasms</em></strong></p><p>
|
|
Using microdissection techniques to isolate tumor cells from biopsies of 21 burn scar-related squamous cell carcinomas, <a href="#30" class="mim-tip-reference" title="Lee, S. H., Shin, M. S., Kim, H. S., Park, W. S., Kim, S. Y., Jang, J. J., Rhim, K. J., Jang, J., Lee, H. K., Park, J. Y., Oh, R. R., Han, S. Y., Lee, J. H., Lee, J. Y., Yoo, N. J. <strong>Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar.</strong> J. Invest. Derm. 114: 122-126, 1999."None>Lee et al. (1999)</a> analyzed the entire FAS coding region and all of the splice sites and found somatic point mutations in 3 cases. No mutations were detected in 50 cases of conventional squamous cell carcinoma. The FAS mutations were located within the death domain (N239D; <a href="#0014">134637.0014</a>), ligand-binding domain (N102S; <a href="#0015">134637.0015</a>) and transmembrane domain (C162R; <a href="#0016">134637.0016</a>). Loss of heterozygosity (LOH) of the other FAS allele was demonstrated in tumors carrying the N239D and C162R mutations, and expression of FAS was confirmed in all tumors with FAS mutations. Burn scar-related squamous cell carcinomas are usually more aggressive than conventional squamous cell carcinomas, and <a href="#30" class="mim-tip-reference" title="Lee, S. H., Shin, M. S., Kim, H. S., Park, W. S., Kim, S. Y., Jang, J. J., Rhim, K. J., Jang, J., Lee, H. K., Park, J. Y., Oh, R. R., Han, S. Y., Lee, J. H., Lee, J. Y., Yoo, N. J. <strong>Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar.</strong> J. Invest. Derm. 114: 122-126, 1999."None>Lee et al. (1999)</a> suggested that somatic mutations in FAS may contribute to the development and/or progression of burn scar-related squamous cell carcinomas.</p><p><a href="#59" class="mim-tip-reference" title="Zhang, X., Miao, X., Sun, T., Tan, W., Qu, S., Xiong, P., Zhou, Y., Lin, D. <strong>Functional polymorphisms in cell death pathway genes FAS and FASL contribute to the risk of lung cancer.</strong> J. Med. Genet. 42: 479-484, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937082</a>] [<a href="https://doi.org/10.1136/jmg.2004.030106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937082">Zhang et al. (2005)</a> genotyped 1,000 Han Chinese lung cancer (<a href="/entry/211980">211980</a>) patients and 1,270 controls for 2 functional polymorphisms in the promoter regions of the FAS and FASL genes, -1377G-A (<a href="#0021">134637.0021</a>) and -844T-C (<a href="/entry/134638#0002">134638.0002</a>), respectively. Compared to noncarriers, there was an increased risk of developing lung cancer for carriers of either the FAS -1377AA or the FASL -844CC genotype; carriers of both homozygous genotypes had a more than 4-fold increased risk. <a href="#59" class="mim-tip-reference" title="Zhang, X., Miao, X., Sun, T., Tan, W., Qu, S., Xiong, P., Zhou, Y., Lin, D. <strong>Functional polymorphisms in cell death pathway genes FAS and FASL contribute to the risk of lung cancer.</strong> J. Med. Genet. 42: 479-484, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937082</a>] [<a href="https://doi.org/10.1136/jmg.2004.030106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937082">Zhang et al. (2005)</a> stated that these results support the hypothesis that the FAS- and FASL-triggered apoptosis pathway plays an important role in human carcinogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15937082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Other Associations</em></strong></p><p>
|
|
The TNFRSF6 gene is situated on 10q in a region implicated in several linkage studies of Alzheimer disease (AD6; <a href="/entry/605526">605526</a>). <a href="#14" class="mim-tip-reference" title="Feuk, L., Prince, J. A., Breen, G., Emahazion, T., Carothers, A., St Clair, D., Brookes, A. J. <strong>Apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease: finding of a positive association for a polymorphism in the TNFRSF6 gene.</strong> Hum. Genet. 107: 391-396, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11129341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11129341</a>] [<a href="https://doi.org/10.1007/s004390000383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11129341">Feuk et al. (2000)</a> found an association between early-onset nonfamilial AD and a promoter polymorphism in the TNFRSF6 gene. <a href="#13" class="mim-tip-reference" title="Feuk, L., Prince, J. A., Blennow, K., Brookes, A. J. <strong>Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease.</strong> Hum. Mutat. 21: 53-60, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12497631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12497631</a>] [<a href="https://doi.org/10.1002/humu.10148" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12497631">Feuk et al. (2003)</a> further investigated the TNFRSF6 region in 121 patients with early-onset dementia and 152 controls. Analysis showed linkage disequilibrium clustered in 2 large blocks containing a limited number of haplotypes. Genotyping of haplotype tagging markers in an additional 204 late-onset AD cases and 177 controls showed that the previously associated marker, located in the promoter of TNFRSF6, had significant association with cognitive status in Scottish early-onset dementia samples, with the strongest signals being evident in the subgroup who carried APOE4 (see <a href="/entry/107741">107741</a>). The results, together with previous data, suggested that a promoter marker in TNFRSF6 plays a moderate but demonstrable role in AD etiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12497631+11129341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="genotypePhenotypeCorrelations" class="mim-anchor"></a>
|
|
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimGenotypePhenotypeCorrelationsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In a study of 8 patients with ALPS caused by mutation in the CD95 gene, <a href="#50" class="mim-tip-reference" title="Vaishnaw, A. K., Orlinick, J. R., Chu, J.-L., Krammer, P. H., Chao, M. V., Elkton, K. B. <strong>The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.</strong> J. Clin. Invest. 103: 355-363, 1999. Note: Erratum: J. Clin. Invest. 103: 1099 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9927496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9927496</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9927496[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI5121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9927496">Vaishnaw et al. (1999)</a> found that mutations in and around the death domain had a dominant-negative effect that was explained by interference with the recruitment of the signal adaptor protein FADD to the death domain. The intracellular domain (ICD) mutations were associated with a highly penetrant phenotype and an autosomal dominant inheritance pattern. In contrast, mutations affecting the extracellular domain (ECD) of the protein resulted in failure of extracellular expression of CD95 or impaired binding to CD95 ligand; these mutations did not have a dominant-negative effect. In each of the families with an ECD mutation, only a single individual was affected. These observations were consistent with different mechanisms of action and modes of inheritance of ICD and ECD mutations, suggesting that individuals with an ECD mutation may require additional defect(s) for expression of ALPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9927496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Jackson, C. E., Fischer, R. E., Hsu, A. P., Anderson, S. M., Choi, Y., Wang, J., Dale, J. K., Fleisher, T. A., Middelton, L. A., Sneller, M. C., Lenardo, M. J., Straus, S. E., Puck, J. M. <strong>Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.</strong> Am. J. Hum. Genet. 64: 1002-1014, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090885</a>] [<a href="https://doi.org/10.1086/302333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090885">Jackson et al. (1999)</a> found that of 17 unique APT1 mutations in unrelated ALPS probands, 12 (71%) occurred in exons 7 to 9, which encode the intracellular portion of FAS. In vitro, activated lymphocytes from all 17 patients showed apoptotic defects when exposed to an anti-FAS agonist monoclonal antibody. In cotransfection experiments, FAS constructs with either intra- or extracellular mutations caused dominant inhibition of apoptosis mediated by wildtype FAS; however, mutations affecting the intracellular domain resulted in more severe inhibition of apoptosis and showed a higher penetrance of the ALPS phenotype. Significant ALPS-related morbidity occurred in 44% of relatives with intracellular mutations, versus 0% of relatives with extracellular mutations. <a href="#25" class="mim-tip-reference" title="Jackson, C. E., Fischer, R. E., Hsu, A. P., Anderson, S. M., Choi, Y., Wang, J., Dale, J. K., Fleisher, T. A., Middelton, L. A., Sneller, M. C., Lenardo, M. J., Straus, S. E., Puck, J. M. <strong>Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.</strong> Am. J. Hum. Genet. 64: 1002-1014, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090885</a>] [<a href="https://doi.org/10.1086/302333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090885">Jackson et al. (1999)</a> concluded that the location of mutations within APT1 strongly influences the development and the severity of ALPS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Martin, D. A., Zheng, L., Siegel, R. M., Huang, B., Fisher, G. H., Wang, J., Jackson, C. E., Puck, J. M., Dale, J., Straus, S. E., Peter, M. E., Krammer, P. H., Fesik, S., Lenardo, M. J. <strong>Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.</strong> Proc. Nat. Acad. Sci. 96: 4552-4557, 1999. Note: Erratum: Proc. Nat. Acad. Sci. 101: 7840 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10200300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10200300</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10200300[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.8.4552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10200300">Martin et al. (1999)</a> contributed to the understanding of the mechanism by which heterozygous mutations in the CD95 receptor result in dominant interference with apoptosis leading to ALPS. They showed that local or global alterations in the structure of the cytoplasmic death domain from 9 independent ALPS CD95 death-domain mutations resulted in a failure to bind the FADD/MORT1 signaling protein. Despite heterozygosity for the abnormal allele, lymphocytes from ALPS patients showed markedly decreased FADD association and a loss of caspase recruitment and activation after CD95 crosslinking. These data suggested that intracytoplasmic CD95 mutations in ALPS impair apoptosis chiefly by disrupting death-domain interactions with the signaling protein FADD/MORT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10200300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Siegel, R. M., Frederiksen, J. K., Zacharias, D. A., Chan, F. K.-M., Johnson, M., Lynch, D., Tsien, R. Y., Lenardo, M. J. <strong>Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.</strong> Science 288: 2354-2357, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10875918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10875918</a>] [<a href="https://doi.org/10.1126/science.288.5475.2354" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10875918">Siegel et al. (2000)</a> found that dominant interference of FAS mutations stems from ligand-independent interaction of wildtype and mutant FAS receptors through a specific region of the extracellular domain, rather than depending upon ligand-induced receptor oligomerization, This domain, located within the first cysteine-rich domain, is termed the pre-ligand assembly domain (PLAD). <a href="#46" class="mim-tip-reference" title="Siegel, R. M., Frederiksen, J. K., Zacharias, D. A., Chan, F. K.-M., Johnson, M., Lynch, D., Tsien, R. Y., Lenardo, M. J. <strong>Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.</strong> Science 288: 2354-2357, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10875918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10875918</a>] [<a href="https://doi.org/10.1126/science.288.5475.2354" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10875918">Siegel et al. (2000)</a> identified preassociated FAS complexes in living cells by means of fluorescence resonance energy transfer. In a large number of ALPS patients, they found that the PLAD was preserved in every example of dominant-negative mutation. To cause dominant interference, the mutant protein must physically interact with the wildtype protein in a preassociated receptor complex which normally permits FAS signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10875918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="animalModel" class="mim-anchor"></a>
|
|
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#54" class="mim-tip-reference" title="Watanabe-Fukunaga, R., Brannan, C. I., Copeland, N. G., Jenkins, N. A., Nagata, S. <strong>Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis.</strong> Nature 356: 314-317, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372394</a>] [<a href="https://doi.org/10.1038/356314a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372394">Watanabe-Fukunaga et al. (1992)</a> noted that the murine phenotype autosomal recessive lymphoproliferation (lpr) is characterized by lymphadenopathy, hypergammaglobulinemia, multiple autoantibodies, and the accumulation of large numbers of nonmalignant CD4-, CD8- T cells. Affected mice usually develop a systemic lupus erythematosus (SLE; <a href="/entry/152700">152700</a>)-like autoimmune disease. Studies suggested a defect in the negative selection of self-reactive T lymphocytes in the thymus. In lpr mice, <a href="#54" class="mim-tip-reference" title="Watanabe-Fukunaga, R., Brannan, C. I., Copeland, N. G., Jenkins, N. A., Nagata, S. <strong>Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis.</strong> Nature 356: 314-317, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372394</a>] [<a href="https://doi.org/10.1038/356314a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372394">Watanabe-Fukunaga et al. (1992)</a> identified a 786T-A transversion in the Fas gene, resulting in an asparagine-to-isoleucine substitution in a highly conserved cytoplasmic region of the protein, demonstrating that lpr is the gene for the mouse Fas antigen. The authors noted that <a href="#16" class="mim-tip-reference" title="Frizzera, G., Kaneko, Y., Sakurai, M. <strong>Angioimmunoblastic lymphadenopathy and related disorders: a retrospective look in search of definitions.</strong> Leukemia 3: 1-5, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2642571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2642571</a>]" pmid="2642571">Frizzera et al. (1989)</a> had identified human patients displaying a phenotype similar to that of lpr mice (see <a href="/entry/601859">601859</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1372394+2642571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#57" class="mim-tip-reference" title="Wu, J., Zhou, T., He, J., Mountz, J. D. <strong>Autoimmune disease in mice due to integration of an endogenous retrovirus in an apoptosis gene.</strong> J. Exp. Med. 178: 461-468, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688023</a>] [<a href="https://doi.org/10.1084/jem.178.2.461" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7688023">Wu et al. (1993)</a> observed autoimmune disease in mice due to integration of endogenous retrovirus in the Fas gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7688023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#44" class="mim-tip-reference" title="Savinov, A. Y., Tcherepanov, A., Green, E. A., Flavell, R. A., Chervonsky, A. V. <strong>Contribution of Fas to diabetes development.</strong> Proc. Nat. Acad. Sci. 100: 628-632, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525697</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12525697[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0237359100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12525697">Savinov et al. (2003)</a> evaluated the importance of Fas in the pathogenesis of diabetes by generating NOD mice (nonobese diabetic mice that develop spontaneous autoimmune diabetes) with beta cell-specific expression of a dominant-negative point mutation in the Fas death domain. Spontaneous diabetes was significantly delayed in these mice, and the effect depended on the expression level of the transgene. However, mice bearing the transgene were still sensitive to diabetes transferred by splenocytes from overtly diabetic NOD mice. At the same time, expression of the transgene neutralized the accelerating effect of transgenic Fas ligand expressed by the same beta cells. The authors concluded that both Fas-dependent and -independent mechanisms are involved in beta cell destruction, but interference with the Fas pathway early in disease development may retard or prevent diabetes progression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12525697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#48" class="mim-tip-reference" title="Song, E., Lee, S.-K., Wang, J., Ince, N., Ouyang, N., Min, J., Chen, J., Shankar, P., Lieberman, J. <strong>RNA interference targeting Fas protects mice from fulminant hepatitis.</strong> Nature Med. 9: 347-351, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12579197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12579197</a>] [<a href="https://doi.org/10.1038/nm828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12579197">Song et al. (2003)</a> investigated the in vivo silencing effect of small interfering RNA (siRNA) duplexes targeting the FAS gene to protect mice from liver failure and fibrosis in 2 models of autoimmune hepatitis. Intravenous injection of Fas siRNA specifically reduced Fas mRNA levels and expression of Fas protein in mouse hepatocytes, and the effects persisted without diminution for 10 days. Hepatocytes isolated from these mice were resistant to apoptosis when exposed to Fas-specific antibody or cocultured with concanavalin-A-stimulated hepatic mononuclear cells. Treatment with Fas siRNA 2 days before concanavalin-A challenge abrogated hepatocyte necrosis and inflammatory infiltration and markedly reduced serum concentrations of transaminases. In a more fulminant hepatitis induced by injecting agonistic Fas-specific antibody, 82% of mice treated with siRNA that effectively silenced Fas survived for 10 days of observation, whereas all control mice died within 3 days. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12579197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Ma, Y., Liu, H., Tu-Rapp, H., Thiesen, H.-J., Ibrahim, S. M., Cole, S. M., Pope, R. M. <strong>Fas ligation on macrophages enhances IL-1R1-Toll-like receptor 4 signaling and promotes chronic inflammation.</strong> Nature Immun. 5: 380-387, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004557</a>] [<a href="https://doi.org/10.1038/ni1054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004557">Ma et al. (2004)</a> observed that Fas-deficient (lpr/lpr) mice had less severe collagen-induced arthritis, but higher levels of Il1b (<a href="/entry/147720">147720</a>) in joints, than control mice, suggesting inefficient activation through Il1r1 (<a href="/entry/147810">147810</a>). Fas- and Fasl-deficient mouse macrophages and human macrophages treated with an antagonistic FASL antibody had suppressed NFKB (see <a href="/entry/164011">164011</a>) activation and cytokine production in response to IL1B or lipopolysaccharide. Ectopic expression of FADD or dominant-negative FADD (containing the death domain only) suppressed MYD88 (<a href="/entry/602170">602170</a>)-induced NFKB and IL6 (<a href="/entry/147620">147620</a>) promoter activation and cytokine expression. <a href="#33" class="mim-tip-reference" title="Ma, Y., Liu, H., Tu-Rapp, H., Thiesen, H.-J., Ibrahim, S. M., Cole, S. M., Pope, R. M. <strong>Fas ligation on macrophages enhances IL-1R1-Toll-like receptor 4 signaling and promotes chronic inflammation.</strong> Nature Immun. 5: 380-387, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004557</a>] [<a href="https://doi.org/10.1038/ni1054" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15004557">Ma et al. (2004)</a> concluded that the FAS-FASL interaction enhances activation through the IL1R1 or TLR4 (<a href="/entry/603030">603030</a>) pathway, possibly contributing to the pathogenesis of chronic arthritis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15004557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Landau, A. M., Luk, K. C., Jones, M.-L., Siegrist-Johnstone, R., Young, Y. K., Kouassi, E., Rymar, V. V., Dagher, A., Sadikot, A. F., Desbarats, J. <strong>Defective Fas expression exacerbates neurotoxicity in a model of Parkinson's disease.</strong> J. Exp. Med. 202: 575-581, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16129703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16129703</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16129703[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1084/jem.20050163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16129703">Landau et al. (2005)</a> found that Fas-deficient lymphoproliferative mice developed a Parkinson disease (PD; <a href="/entry/168600">168600</a>) phenotype, characterized by extensive nigrostriatal degeneration accompanied by tremor, hypokinesia, and loss of motor coordination, after treatment with the dopaminergic neurotoxin MPTP at a dose that caused no phenotype in wildtype mice. Mice with mutated Fasl and generalized lymphoproliferative disease had an intermediate phenotype. Treatment of cultured midbrain neurons with Fasl to induce Fas signaling protected them from MPTP toxicity. Mice lacking only Fas exon 9, which encodes the death domain, but retaining the intracellular Fas domain and cell surface expression of Fas, were resistant to MPTP. Peripheral blood lymphocytes from patients with idiopathic PD showed a highly significant deficit in their ability to upregulate Fas after mitogen stimulation. <a href="#29" class="mim-tip-reference" title="Landau, A. M., Luk, K. C., Jones, M.-L., Siegrist-Johnstone, R., Young, Y. K., Kouassi, E., Rymar, V. V., Dagher, A., Sadikot, A. F., Desbarats, J. <strong>Defective Fas expression exacerbates neurotoxicity in a model of Parkinson's disease.</strong> J. Exp. Med. 202: 575-581, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16129703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16129703</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16129703[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1084/jem.20050163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16129703">Landau et al. (2005)</a> concluded that reduced FAS expression increases susceptibility to neurodegeneration and that FAS has a role in neuroprotection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16129703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Hutcheson, J., Scatizzi, J. C., Siddiqui, A. M., Haines, G. K., III, Wu, T., Li, Q.-Z., Davis, L. S., Mohan, C., Perlman, H. <strong>Combined deficiency of proapoptotic regulators Bim and Fas results in the early onset of systemic autoimmunity.</strong> Immunity 28: 206-217, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18275831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18275831</a>] [<a href="https://doi.org/10.1016/j.immuni.2007.12.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18275831">Hutcheson et al. (2008)</a> found that patients with SLE displayed increased expression of antiapoptotic members of the BCL2 (<a href="/entry/151430">151430</a>) and FAS apoptotic pathways in mononuclear cells. They found that Fas lpr/lpr mice that also lacked the BCL2 proapoptotic member Bim (Bim -/-) developed severe SLE-like disease by 16 weeks of age, whereas Bim -/- or Fas lpr/lpr mice did not. Antigen-presenting cells (APCs) from Bim -/- Fas lpr/lpr double-mutant mice were markedly activated and their numbers were increased in lymphoid tissues and kidneys, though numerous apoptotic (TUNEL-positive) cells were observed in glomeruli of these mice. <a href="#21" class="mim-tip-reference" title="Hutcheson, J., Scatizzi, J. C., Siddiqui, A. M., Haines, G. K., III, Wu, T., Li, Q.-Z., Davis, L. S., Mohan, C., Perlman, H. <strong>Combined deficiency of proapoptotic regulators Bim and Fas results in the early onset of systemic autoimmunity.</strong> Immunity 28: 206-217, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18275831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18275831</a>] [<a href="https://doi.org/10.1016/j.immuni.2007.12.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18275831">Hutcheson et al. (2008)</a> concluded that dysregulation of the BCL2 or FAS pathways can alter the function of APCs and lead to SLE pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18275831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#56" class="mim-tip-reference" title="Weant, A. E., Michalek, R. D., Khan, I. U., Holbrook, B. C., Willingham, M. C., Grayson, J. M. <strong>Apoptosis regulators Bim and Fas function concurrently to control autoimmunity and CD8+ T cell contraction.</strong> Immunity 28: 218-230, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18275832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18275832</a>] [<a href="https://doi.org/10.1016/j.immuni.2007.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18275832">Weant et al. (2008)</a> found that mice lacking both Bim and Fas showed a synergistic disruption of lymphoid homeostasis, rapid onset of autoimmunity, and organ-specific blocks on contraction of antiviral immune responses. The double-mutant mice had 100-fold more antigen-specific memory Cd8-positive T cells in their lymph nodes than did wildtype mice. <a href="#56" class="mim-tip-reference" title="Weant, A. E., Michalek, R. D., Khan, I. U., Holbrook, B. C., Willingham, M. C., Grayson, J. M. <strong>Apoptosis regulators Bim and Fas function concurrently to control autoimmunity and CD8+ T cell contraction.</strong> Immunity 28: 218-230, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18275832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18275832</a>] [<a href="https://doi.org/10.1016/j.immuni.2007.12.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18275832">Weant et al. (2008)</a> concluded that multiple death pathways function concurrently to balance proliferation and apoptosis and to prevent autoimmunity and downsize T-cell responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18275832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="nomenclature" class="mim-anchor"></a>
|
|
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#3" class="mim-tip-reference" title="Beautyman, W. <strong>Apoptosis again. (Letter)</strong> Nature 376: 380 only, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7630409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7630409</a>] [<a href="https://doi.org/10.1038/376380c0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7630409">Beautyman (1995)</a> stated that the word 'apoptosis' was 'taken straight from Liddell and Scott's classical Greek-English lexicon complete with examples of its use in medicine by Hippocrates and Dioscorides (the physician, not the poet).' He stated, furthermore, that for this reason it should be pronounced with 2 'p's. He pointed out that <a href="#28" class="mim-tip-reference" title="Kerr, J. F. R., Wyllie, A. H., Currie, A. R. <strong>Apoptosis: a basic biological phenomenon with wide-ranging implications in tissue kinetics.</strong> Brit. J. Cancer 26: 239-257, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4561027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4561027</a>] [<a href="https://doi.org/10.1038/bjc.1972.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4561027">Kerr et al. (1972)</a>, in introducing the term into modern science, suggested silencing the second p. Silencing the p seems so well established in words of similar derivation, such as 'ptosis' and 'pneumonia,' that silencing of the second p would seem appropriate in modern speech. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7630409+4561027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="allelicVariants" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<span href="#mimAllelicVariantsFold" id="mimAllelicVariantsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
|
|
</span>
|
|
<strong>21 Selected Examples</a>):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimAllelicVariantsFold" class="collapse in mimTextToggleFold">
|
|
<div>
|
|
<a href="/allelicVariants/134637" class="btn btn-default" role="button"> Table View </a>
|
|
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=134637[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
|
|
|
|
</div>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0001" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, 1-BP DEL, 429G
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs606231361 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231361;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs606231361?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs606231361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs606231361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017961" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017961" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017961</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), <a href="#15" class="mim-tip-reference" title="Fisher, G. H., Rosenberg, F. J., Straus, S. E., Dale, J. K., Middelton, L. A., Lin, A. Y., Strober, W., Lenardo, M. J., Puck, J. M. <strong>Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.</strong> Cell 81: 935-946, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7540117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7540117</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90013-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7540117">Fisher et al. (1995)</a> identified a heterozygous 1-bp deletion (429delG) in exon 3 of the FAS gene, resulting in a frameshift and premature termination. The authors predicted reduced surface expression of the Fas antigen and a loss of function. As the patient's unaffected mother was also heterozygous for the same mutation, the authors suggested that additional modifier genes may be involved in the development of the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7540117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0002" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, EX3DEL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs606231362 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231362;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs606231362" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs606231362" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017962 OR RCV003517125" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017962, RCV003517125" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017962...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), <a href="#15" class="mim-tip-reference" title="Fisher, G. H., Rosenberg, F. J., Straus, S. E., Dale, J. K., Middelton, L. A., Lin, A. Y., Strober, W., Lenardo, M. J., Puck, J. M. <strong>Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.</strong> Cell 81: 935-946, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7540117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7540117</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90013-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7540117">Fisher et al. (1995)</a> found in-frame deletion of exon 3 of the FAS gene, resulting from a 1-bp insertion in the 5-prime splice site of intron 3 and leading to a change in the extracellular domain of the protein. Although the patient's mother, who was heterozygous for the same mutation, had no clinical abnormalities, in vitro analysis showed impaired T-lymphocyte apoptosis. <a href="#15" class="mim-tip-reference" title="Fisher, G. H., Rosenberg, F. J., Straus, S. E., Dale, J. K., Middelton, L. A., Lin, A. Y., Strober, W., Lenardo, M. J., Puck, J. M. <strong>Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.</strong> Cell 81: 935-946, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7540117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7540117</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90013-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7540117">Fisher et al. (1995)</a> concluded that the exon 3 deletion had a dominant interfering effect, but also noted that genetic modifiers must be involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7540117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0003" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, THR225PRO
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913076 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913076;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017963" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017963" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017963</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), <a href="#15" class="mim-tip-reference" title="Fisher, G. H., Rosenberg, F. J., Straus, S. E., Dale, J. K., Middelton, L. A., Lin, A. Y., Strober, W., Lenardo, M. J., Puck, J. M. <strong>Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.</strong> Cell 81: 935-946, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7540117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7540117</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90013-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7540117">Fisher et al. (1995)</a> identified a heterozygous 915A-C transversion in the FAS gene, resulting in a thr225-to-pro (T225P) substitution in the death domain of the protein. The father had died of Hodgkin disease, but the paternal uncle, who also had Hodgkin disease, was heterozygous for the T225P mutation, indicating that the patient's father was the source of the mutation. The mutation resulted in a dominant interfering effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7540117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0004" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, IVS7AS, A-C, -2
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs606231363 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231363;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs606231363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs606231363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017964" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017964" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017964</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), <a href="#15" class="mim-tip-reference" title="Fisher, G. H., Rosenberg, F. J., Straus, S. E., Dale, J. K., Middelton, L. A., Lin, A. Y., Strober, W., Lenardo, M. J., Puck, J. M. <strong>Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.</strong> Cell 81: 935-946, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7540117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7540117</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90013-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7540117">Fisher et al. (1995)</a> identified an A-to-C change at the 3-prime splice site of intron 6 of the FAS gene, resulting in aberrant splicing and truncation at the intracellular side of the membrane-spanning domain. The asymptomatic mother was heterozygous for the same mutation, but appeared to be a mosaic. In vitro studies showed that the mother had defective T-lymphocyte apoptosis. The authors concluded that the mutation had a dominant interfering effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7540117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0005" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, GLN257TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913077 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913077;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913077" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017965 OR RCV001071386" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017965, RCV001071386" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017965...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), <a href="#15" class="mim-tip-reference" title="Fisher, G. H., Rosenberg, F. J., Straus, S. E., Dale, J. K., Middelton, L. A., Lin, A. Y., Strober, W., Lenardo, M. J., Puck, J. M. <strong>Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.</strong> Cell 81: 935-946, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7540117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7540117</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90013-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7540117">Fisher et al. (1995)</a> identified a heterozygous 1011C-T transition in the FAS gene, resulting in a gln257-to-ter (Q257X) substitution in the death domain of the protein. The patient's asymptomatic mother had the same heterozygous mutation, suggesting that other genetic modifiers were involved in phenotypic expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7540117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0006" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, ARG105TRP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913078 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913078;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121913078?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017966 OR RCV005089268" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017966, RCV005089268" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017966...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#4" class="mim-tip-reference" title="Bettinardi, A., Brugnoni, D., Quiros-Roldan, E., Malagoli, A., La Grutta, S., Correra, A., Notarangelo, L. D. <strong>Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.</strong> Blood 89: 902-909, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9028321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9028321</a>]" pmid="9028321">Bettinardi et al. (1997)</a> described a family in which 3 sibs affected with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>) were compound heterozygous for 2 mutations in the FAS gene: a 555C-T transition, resulting in an arg105-to-trp (R105W) substitution, was inherited from the mother, and an 889A-G transition, resulting in a tyr216-to-cys (Y216C; <a href="#0007">134637.0007</a>) substitution, was inherited from the father. The children shared common features, including splenomegaly and lymphadenopathy, but only 1 developed severe autoimmune hemolytic anemia and thrombocytopenia. Another child developed hypergammaglobulinemia, with increased IgG and IgA serum levels. No clinical or immunologic defect and no evidence of defective FAS function was identified in the heterozygous parents. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9028321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0007" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, TYR216CYS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913079 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913079;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913079" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017967 OR RCV000814654" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017967, RCV000814654" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017967...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the tyr216-to-cys (Y216C) mutation in the FAS gene that was found in compound heterozygous state in sibs with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>) by <a href="#4" class="mim-tip-reference" title="Bettinardi, A., Brugnoni, D., Quiros-Roldan, E., Malagoli, A., La Grutta, S., Correra, A., Notarangelo, L. D. <strong>Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.</strong> Blood 89: 902-909, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9028321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9028321</a>]" pmid="9028321">Bettinardi et al. (1997)</a>, see <a href="#0006">134637.0006</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9028321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0008" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, ASP244VAL
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28929498 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28929498;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28929498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28929498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017968 OR RCV002513090" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017968, RCV002513090" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017968...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>) containing 11 affected individuals in 4 generations, <a href="#23" class="mim-tip-reference" title="Infante, A. J., Britton, H. A., DeNapoli, T., Middleton, L. A., Lenardo, M. J., Jackson, C. E., Wang, J., Fleisher, T., Straus, S. E., Puck, J. M. <strong>The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.</strong> J. Pediat. 133: 629-633, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9821419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9821419</a>] [<a href="https://doi.org/10.1016/s0022-3476(98)70102-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9821419">Infante et al. (1998)</a> identified a heterozygous 973A-T transversion in the FAS cDNA, resulting in a nonconservative asp244-to-val (D244V) substitution in the intracellular domain of the protein. Although 1 affected individual died of postsplenectomy sepsis and 1 had been treated for lymphoma, the FAS mutation in this family was compatible with a healthy adulthood, as clinical features of ALPS receded with increasing age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9821419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0009" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, ARG234PRO
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913080 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913080;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017969 OR RCV000638906 OR RCV001701481" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017969, RCV000638906, RCV001701481" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017969...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with an autosomal dominant form of autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), <a href="#50" class="mim-tip-reference" title="Vaishnaw, A. K., Orlinick, J. R., Chu, J.-L., Krammer, P. H., Chao, M. V., Elkton, K. B. <strong>The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.</strong> J. Clin. Invest. 103: 355-363, 1999. Note: Erratum: J. Clin. Invest. 103: 1099 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9927496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9927496</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9927496[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI5121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9927496">Vaishnaw et al. (1999)</a> identified a heterozygous G-to-C transversion in the FAS gene, resulting in an arg234-to-pro (R234P) substitution in the intracellular domain of the protein. The family was originally reported by <a href="#39" class="mim-tip-reference" title="Rao, L. M., Shahidi, N. T., Opitz, J. M. <strong>Hereditary splenomegaly with hypersplenism.</strong> Clin. Genet. 5: 379-386, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4852259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4852259</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1974.tb01710.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4852259">Rao et al. (1974)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9927496+4852259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0010" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, THR254ILE
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913081 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913081;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017970 OR RCV001851899" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017970, RCV001851899" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017970...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with autosomal dominant autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), <a href="#50" class="mim-tip-reference" title="Vaishnaw, A. K., Orlinick, J. R., Chu, J.-L., Krammer, P. H., Chao, M. V., Elkton, K. B. <strong>The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.</strong> J. Clin. Invest. 103: 355-363, 1999. Note: Erratum: J. Clin. Invest. 103: 1099 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9927496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9927496</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9927496[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI5121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9927496">Vaishnaw et al. (1999)</a> identified a heterozygous C-to-T transition in the FAS gene, resulting in a thr254-to-ile (T254I) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9927496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0011" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, IVS7DS, T-A, +2
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607122 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607122;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017971" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017971" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017971</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with autosomal dominant autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), <a href="#50" class="mim-tip-reference" title="Vaishnaw, A. K., Orlinick, J. R., Chu, J.-L., Krammer, P. H., Chao, M. V., Elkton, K. B. <strong>The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.</strong> J. Clin. Invest. 103: 355-363, 1999. Note: Erratum: J. Clin. Invest. 103: 1099 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9927496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9927496</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9927496[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI5121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9927496">Vaishnaw et al. (1999)</a> identified a heterozygous splice site mutation in the FAS gene, resulting in a frameshift and premature termination at position 209 (ser209-to-ter; S209X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9927496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0012" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, A-T, -1
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs606231364 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231364;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs606231364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs606231364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017972" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017972" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017972</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#25" class="mim-tip-reference" title="Jackson, C. E., Fischer, R. E., Hsu, A. P., Anderson, S. M., Choi, Y., Wang, J., Dale, J. K., Fleisher, T. A., Middelton, L. A., Sneller, M. C., Lenardo, M. J., Straus, S. E., Puck, J. M. <strong>Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.</strong> Am. J. Hum. Genet. 64: 1002-1014, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090885</a>] [<a href="https://doi.org/10.1086/302333" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090885">Jackson et al. (1999)</a> found a -1A-T variant at the FAS signal sequence cleavage site in 13% of African American TNFRSF6 alleles. The variant mediated apoptosis less well than wildtype FAS and was partially inhibitory. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0013" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, EX9, 20-BP DUP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs606231365 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231365;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs606231365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs606231365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017973" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017973" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017973</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), who was born of consanguineous parents, <a href="#51" class="mim-tip-reference" title="van der Burg, M., de Groot, R., Comans-Bitter, W. M., den Hollander, J. C., Hooijkaas, H., Neijens, H. J., Berger, R. M. F., Oranje, A. P., Langerak, A. W., van Dongen, J. J. M. <strong>Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?</strong> Pediat. Res. 47: 336-343, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10709732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10709732</a>] [<a href="https://doi.org/10.1203/00006450-200003000-00009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10709732">van der Burg et al. (2000)</a> identified a homozygous 20-nucleotide duplication in the last exon of the FAS gene, affecting the cytoplasmic signaling domain. The patient's unaffected parents and sibs were heterozygous for the mutation. The findings indicated that this phenotype was the human homolog of the FAS-null mouse, since the patient carried a homozygous mutation in the FAS gene and showed a severe and accelerated ALPS phenotype. <a href="#51" class="mim-tip-reference" title="van der Burg, M., de Groot, R., Comans-Bitter, W. M., den Hollander, J. C., Hooijkaas, H., Neijens, H. J., Berger, R. M. F., Oranje, A. P., Langerak, A. W., van Dongen, J. J. M. <strong>Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?</strong> Pediat. Res. 47: 336-343, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10709732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10709732</a>] [<a href="https://doi.org/10.1203/00006450-200003000-00009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10709732">Van der Burg et al. (2000)</a> noted that <a href="#43" class="mim-tip-reference" title="Rieux-Laucat, F., Le Deist, F., Hivroz, C., Roberts, I. A. G., Debatin, K. M., Fischer, A., de Villartay, J. P. <strong>Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.</strong> Science 268: 1347-1349, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539157</a>] [<a href="https://doi.org/10.1126/science.7539157" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539157">Rieux-Laucat et al. (1995)</a> had reported a severe case of ALPS with a homozygous FAS deletion, and that <a href="#4" class="mim-tip-reference" title="Bettinardi, A., Brugnoni, D., Quiros-Roldan, E., Malagoli, A., La Grutta, S., Correra, A., Notarangelo, L. D. <strong>Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.</strong> Blood 89: 902-909, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9028321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9028321</a>]" pmid="9028321">Bettinardi et al. (1997)</a> had reported 3 sibs who were compound heterozygous for 2 FAS mutations (see <a href="#0006">134637.0006</a> and <a href="#0007">134637.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10709732+7539157+9028321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0014" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, ASN239ASP
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913082 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913082;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017974" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017974" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017974</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a burn scar-related squamous cell carcinoma, <a href="#30" class="mim-tip-reference" title="Lee, S. H., Shin, M. S., Kim, H. S., Park, W. S., Kim, S. Y., Jang, J. J., Rhim, K. J., Jang, J., Lee, H. K., Park, J. Y., Oh, R. R., Han, S. Y., Lee, J. H., Lee, J. Y., Yoo, N. J. <strong>Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar.</strong> J. Invest. Derm. 114: 122-126, 1999."None>Lee et al. (1999)</a> identified a 957A-G transition in the TNFRSF6 gene, resulting in an asn239-to-asp (N239D) substitution in the FAS death domain.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0015" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, ASN102SER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913083 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913083;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017975" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017975" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017975</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a burn scar-related squamous cell carcinoma, <a href="#30" class="mim-tip-reference" title="Lee, S. H., Shin, M. S., Kim, H. S., Park, W. S., Kim, S. Y., Jang, J. J., Rhim, K. J., Jang, J., Lee, H. K., Park, J. Y., Oh, R. R., Han, S. Y., Lee, J. H., Lee, J. Y., Yoo, N. J. <strong>Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar.</strong> J. Invest. Derm. 114: 122-126, 1999."None>Lee et al. (1999)</a> identified a 547A-G transition in the TNFRSF6 gene, resulting in an asn102-to-ser (N102S) substitution in the FAS ligand-binding domain.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0016" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, CYS162ARG
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913084 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913084;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017976" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017976" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017976</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a burn scar-related squamous cell carcinoma, <a href="#30" class="mim-tip-reference" title="Lee, S. H., Shin, M. S., Kim, H. S., Park, W. S., Kim, S. Y., Jang, J. J., Rhim, K. J., Jang, J., Lee, H. K., Park, J. Y., Oh, R. R., Han, S. Y., Lee, J. H., Lee, J. Y., Yoo, N. J. <strong>Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar.</strong> J. Invest. Derm. 114: 122-126, 1999."None>Lee et al. (1999)</a> identified a 726T-to-C transition in the TNFRSF6 gene, resulting in a cys162-to-arg (C162R) substitution in the FAS transmembrane domain.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0017" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, GLY231ALA
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913085 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913085;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017977" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017977" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017977</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), <a href="#35" class="mim-tip-reference" title="Martin, D. A., Zheng, L., Siegel, R. M., Huang, B., Fisher, G. H., Wang, J., Jackson, C. E., Puck, J. M., Dale, J., Straus, S. E., Peter, M. E., Krammer, P. H., Fesik, S., Lenardo, M. J. <strong>Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.</strong> Proc. Nat. Acad. Sci. 96: 4552-4557, 1999. Note: Erratum: Proc. Nat. Acad. Sci. 101: 7840 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10200300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10200300</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10200300[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.8.4552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10200300">Martin et al. (1999)</a> identified a heterozygous 934G-C transversion in the TNFRSF6 gene, resulting in a gly231-to-ala (G231A) substitution. (The authors originally referred to the nucleotide transversion as 943G-C and the substitution as ARG234PRO, which they later corrected in an erratum.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10200300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0018" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, PRO201FS, 204TER
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607122 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607122;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs267607122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs267607122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017978 OR RCV001382233" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017978, RCV001382233" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017978...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 of 6 patients with heterozygous mosaic cases of autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>), <a href="#18" class="mim-tip-reference" title="Holzelova, E., Vonarbourg, C., Stolzenberg, M.-C., Arkwright, P. D., Selz, F., Prieur, A.-M., Blanche, S., Bartunkova, J., Vilmer, E., Fischer, A., Le Deist, F., Rieux-Laucat, F. <strong>Autoimmune lymphoproliferative syndrome with somatic Fas mutations.</strong> New Eng. J. Med. 351: 1409-1418, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15459302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15459302</a>] [<a href="https://doi.org/10.1056/NEJMoa040036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15459302">Holzelova et al. (2004)</a> identified a frameshift mutation in exon 8 of the FAS gene, resulting in a premature stop at codon 204. Clinical manifestations in the 3 mosaic cases were highly variable. The same mutation had been described as a germline mutation in a patient with ALPS1A by <a href="#42" class="mim-tip-reference" title="Rieux-Laucat, F., Blachere, S., Danielan, S., De Villartay, J. P., Oleastro, M., Solary, E., Bader-Meunier, B., Arkwright, P., Pondare, C., Bernaudin, F., Chapel, H., Nielsen, S., Berrah, M., Fischer, A., Le Deist, F. <strong>Lymphoproliferative syndrome with autoimmunity: a possible genetic basis for dominant expression of the clinical manifestations.</strong> Blood 94: 2575-2582, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10515860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10515860</a>]" pmid="10515860">Rieux-Laucat et al. (1999)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10515860+15459302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0019" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, 1-BP INS
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs606231366 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231366;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs606231366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs606231366" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017979" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017979" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017979</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>) reported by <a href="#6" class="mim-tip-reference" title="Canale, V. C., Smith, C. H. <strong>Chronic lymphadenopathy simulating malignant lymphoma.</strong> J. Pediat. 70: 891-899, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4165068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4165068</a>] [<a href="https://doi.org/10.1016/s0022-3476(67)80262-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4165068">Canale and Smith (1967)</a>, <a href="#12" class="mim-tip-reference" title="Drappa, J., Vaishnaw, A. K., Sullivan, K. E., Chu, J.-L., Elkon, K. B. <strong>Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.</strong> New Eng. J. Med. 335: 1643-1649, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8929361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8929361</a>] [<a href="https://doi.org/10.1056/NEJM199611283352204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8929361">Drappa et al. (1996)</a> identified a heterozygous 1-bp insertion within the death domain of the FAS gene, resulting in a lys230to-ter (K230X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4165068+8929361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0020" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, ASP244TYR
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913086 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913086;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121913086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121913086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017980" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017980" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017980</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; <a href="/entry/601859">601859</a>) reported by <a href="#6" class="mim-tip-reference" title="Canale, V. C., Smith, C. H. <strong>Chronic lymphadenopathy simulating malignant lymphoma.</strong> J. Pediat. 70: 891-899, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4165068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4165068</a>] [<a href="https://doi.org/10.1016/s0022-3476(67)80262-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4165068">Canale and Smith (1967)</a>, and in his affected son, <a href="#12" class="mim-tip-reference" title="Drappa, J., Vaishnaw, A. K., Sullivan, K. E., Chu, J.-L., Elkon, K. B. <strong>Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.</strong> New Eng. J. Med. 335: 1643-1649, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8929361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8929361</a>] [<a href="https://doi.org/10.1056/NEJM199611283352204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8929361">Drappa et al. (1996)</a> identified a heterozygous 972G-T transversion within the death domain of the FAS gene, resulting in an asp244-to-tyr (D244Y) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4165068+8929361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div>
|
|
<a id="0021" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 LUNG CANCER, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<div style="float: left;">
|
|
FAS, -1377G-A
|
|
</div>
|
|
|
|
</span>
|
|
|
|
|
|
|
|
<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs2234767 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2234767;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs2234767?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs2234767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs2234767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000017981 OR RCV003488343" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000017981, RCV003488343" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000017981...</a>
|
|
</span>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p><a href="#59" class="mim-tip-reference" title="Zhang, X., Miao, X., Sun, T., Tan, W., Qu, S., Xiong, P., Zhou, Y., Lin, D. <strong>Functional polymorphisms in cell death pathway genes FAS and FASL contribute to the risk of lung cancer.</strong> J. Med. Genet. 42: 479-484, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937082</a>] [<a href="https://doi.org/10.1136/jmg.2004.030106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937082">Zhang et al. (2005)</a> genotyped 1,000 Han Chinese lung cancer (<a href="/entry/211980">211980</a>) patients and 1,270 controls for 2 functional polymorphisms in the promoter regions of the FAS and FASL genes, -1377G-A and -844T-C (<a href="/entry/134638#0002">134638.0002</a>), respectively. Compared to noncarriers, there was a 1.6-fold increased risk of developing lung cancer for carriers of the FAS -1377AA genotype and a 1.8-fold increased risk for carriers of the FASL -844CC genotype. Carriers of both homozygous genotypes had a more than 4-fold increased risk, indicative of multiplicative gene-gene interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15937082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Arscott1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Arscott, P. L., Stokes, T., Myc, A., Giordano, T. J., Thompson, N. W., Baker, J. R., Jr.
|
|
<strong>Fas (CD95) expression is up-regulated on papillary thyroid carcinoma.</strong>
|
|
J. Clin. Endocr. Metab. 84: 4246-4252, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10566680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10566680</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10566680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.84.11.6139" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Aspinall1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Aspinall, A. I., Pinto, A., Auer, I. A., Bridges, P., Luider, J., Dimnik, L., Patel, K. D., Jorgenson, K., Woodman, R. C.
|
|
<strong>Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.</strong>
|
|
Blood Cells Molec. Dis. 25: 227-238, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10575548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10575548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10575548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/bcmd.1999.0248" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Beautyman1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Beautyman, W.
|
|
<strong>Apoptosis again. (Letter)</strong>
|
|
Nature 376: 380 only, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7630409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7630409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7630409" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/376380c0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bettinardi1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bettinardi, A., Brugnoni, D., Quiros-Roldan, E., Malagoli, A., La Grutta, S., Correra, A., Notarangelo, L. D.
|
|
<strong>Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.</strong>
|
|
Blood 89: 902-909, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9028321/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9028321</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9028321" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Brunner1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brunner, T., Mogil, R. J., LaFace, D., Yoo, N. J., Mahboubi, A., Echeverri, F., Martin, S. J., Force, W. R., Lynch, D. H., Ware, C. F., Green, D. R.
|
|
<strong>Cell-autonomous Fas (CD95)/Fas-ligand interaction mediates activation-induced apoptosis in T-cell hybridomas.</strong>
|
|
Nature 373: 441-444, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7530336/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7530336</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7530336" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/373441a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Canale1967" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Canale, V. C., Smith, C. H.
|
|
<strong>Chronic lymphadenopathy simulating malignant lymphoma.</strong>
|
|
J. Pediat. 70: 891-899, 1967.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4165068/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4165068</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4165068" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(67)80262-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Chen2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chen, L., Park, S.-M., Tumanov, A. V., Hau, A., Sawada, K., Feig, C., Turner, J. R., Fu, Y.-X., Romero, I. L., Lengyel, E., Peter, M. E.
|
|
<strong>CD95 promotes tumour growth.</strong>
|
|
Nature 465: 492-496, 2010. Note: Erratum: Nature 471: 254 only, 2011. Erratum: Nature 475: 254 only, 2011. Erratum: Nature 491: 784 only, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20505730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20505730</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20505730[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20505730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature09075" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Clementi2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Clementi, R., Dagna, L., Dianzani, U., Dupre, L., Dianzani, I., Ponzoni, M., Cometa, A., Chiocchetti, A., Sabbadini, M. G., Rugarli, C., Ciceri, F., Maccario, R., Locatelli, F., Danesino, C., Ferrarini, M., Bregni, M.
|
|
<strong>Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.</strong>
|
|
New Eng. J. Med. 351: 1419-1424, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15459303/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15459303</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15459303" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa041432" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Desbarats2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Desbarats, J., Birge, R. B., Mimouni-Rongy, M., Weinstein, D. E., Palerme, J.-S., Newell, M. K.
|
|
<strong>Fas engagement induces neurite growth through ERK activation and p35 upregulation.</strong>
|
|
Nature Cell Biol. 5: 118-125, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12545171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12545171</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12545171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ncb916" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Dhein1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dhein, J., Walczak, H., Baumler, C., Debatin, K.-M., Krammer, P. H.
|
|
<strong>Autocrine T-cell suicide mediated by APO-1/(Fas/CD95).</strong>
|
|
Nature 373: 438-441, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7530335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7530335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7530335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/373438a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Dowdell2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Dowdell, K. C., Niemela, J. E., Price, S., Davis, J., Hornung, R. L., Oliveira, J. B., Puck, J. M., Jaffe, E. S., Pittaluga, S., Cohen, J. I., Fleisher, T. A., Rao, V. K.
|
|
<strong>Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.</strong>
|
|
Blood 115: 5164-5169, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20360470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20360470</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20360470" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1182/blood-2010-01-263145" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Drappa1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Drappa, J., Vaishnaw, A. K., Sullivan, K. E., Chu, J.-L., Elkon, K. B.
|
|
<strong>Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.</strong>
|
|
New Eng. J. Med. 335: 1643-1649, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8929361/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8929361</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8929361" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM199611283352204" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Feuk2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Feuk, L., Prince, J. A., Blennow, K., Brookes, A. J.
|
|
<strong>Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease.</strong>
|
|
Hum. Mutat. 21: 53-60, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12497631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12497631</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12497631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.10148" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Feuk2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Feuk, L., Prince, J. A., Breen, G., Emahazion, T., Carothers, A., St Clair, D., Brookes, A. J.
|
|
<strong>Apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease: finding of a positive association for a polymorphism in the TNFRSF6 gene.</strong>
|
|
Hum. Genet. 107: 391-396, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11129341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11129341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11129341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390000383" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Fisher1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fisher, G. H., Rosenberg, F. J., Straus, S. E., Dale, J. K., Middelton, L. A., Lin, A. Y., Strober, W., Lenardo, M. J., Puck, J. M.
|
|
<strong>Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.</strong>
|
|
Cell 81: 935-946, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7540117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7540117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7540117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(95)90013-6" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Frizzera1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Frizzera, G., Kaneko, Y., Sakurai, M.
|
|
<strong>Angioimmunoblastic lymphadenopathy and related disorders: a retrospective look in search of definitions.</strong>
|
|
Leukemia 3: 1-5, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2642571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2642571</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2642571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Grassme2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Grassme, H., Kirschnek, S., Riethmueller, J., Riehle, A., von Kurthy, G., Lang, F., Weller, M., Gulbins, E.
|
|
<strong>CD95/CD95 ligand interactions on epithelial cells in host defense to Pseudomonas aeruginosa.</strong>
|
|
Science 290: 527-530, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11039936/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11039936</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11039936" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.290.5491.527" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Holzelova2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Holzelova, E., Vonarbourg, C., Stolzenberg, M.-C., Arkwright, P. D., Selz, F., Prieur, A.-M., Blanche, S., Bartunkova, J., Vilmer, E., Fischer, A., Le Deist, F., Rieux-Laucat, F.
|
|
<strong>Autoimmune lymphoproliferative syndrome with somatic Fas mutations.</strong>
|
|
New Eng. J. Med. 351: 1409-1418, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15459302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15459302</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15459302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMoa040036" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Hueber2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hueber, A.-O.
|
|
<strong>CD95: more than just a death factor?</strong>
|
|
Nature Cell Biol. 2: E23-E25, 2000. Note: Erratum: Nature Cell Biol. 2: E50, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/35000092" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Hueber1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hueber, A.-O., Zornig, M., Lyon, D., Suda, T., Nagata, S., Evan, G. I.
|
|
<strong>Requirement for the CD95 receptor-ligand pathway in c-Myc-induced apoptosis.</strong>
|
|
Science 278: 1305-1309, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9360929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9360929</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9360929" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.278.5341.1305" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Hutcheson2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hutcheson, J., Scatizzi, J. C., Siddiqui, A. M., Haines, G. K., III, Wu, T., Li, Q.-Z., Davis, L. S., Mohan, C., Perlman, H.
|
|
<strong>Combined deficiency of proapoptotic regulators Bim and Fas results in the early onset of systemic autoimmunity.</strong>
|
|
Immunity 28: 206-217, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18275831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18275831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18275831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.immuni.2007.12.015" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Inazawa1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Inazawa, J., Itoh, N., Abe, T., Nagata, S.
|
|
<strong>Assignment of the human Fas antigen gene (FAS) to 10q24.1.</strong>
|
|
Genomics 14: 821-822, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1385309/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1385309</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1385309" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0888-7543(05)80200-9" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Infante1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Infante, A. J., Britton, H. A., DeNapoli, T., Middleton, L. A., Lenardo, M. J., Jackson, C. E., Wang, J., Fleisher, T., Straus, S. E., Puck, J. M.
|
|
<strong>The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.</strong>
|
|
J. Pediat. 133: 629-633, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9821419/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9821419</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9821419" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(98)70102-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Itoh1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Itoh, N., Yonehara, S., Ishii, A., Yonehara, M., Mizushima, S.-I., Sameshima, M., Hase, A., Seto, Y., Nagata, S.
|
|
<strong>The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis.</strong>
|
|
Cell 66: 233-243, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1713127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1713127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1713127" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(91)90614-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Jackson1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jackson, C. E., Fischer, R. E., Hsu, A. P., Anderson, S. M., Choi, Y., Wang, J., Dale, J. K., Fleisher, T. A., Middelton, L. A., Sneller, M. C., Lenardo, M. J., Straus, S. E., Puck, J. M.
|
|
<strong>Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.</strong>
|
|
Am. J. Hum. Genet. 64: 1002-1014, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/302333" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Jost2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jost, P. J., Grabow, S., Gray, D., McKenzie, M. D., Nachbur, U., Huang, D. C. S., Bouillet, P., Thomas, H. E., Borner, C., Silke, J., Strasser, A., Kaufmann, T.
|
|
<strong>XIAP discriminates between type I and type II FAS-induced apoptosis.</strong>
|
|
Nature 460: 1035-1039, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19626005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19626005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19626005[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19626005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature08229" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Ju1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ju, S.-T., Panka, D. J., Cui, H., Ettinger, R., El-Khatib, M., Sherr, D. H., Stanger, B. Z., Marshak-Rothstein, A.
|
|
<strong>Fas(CD95)/FasL interactions required for programmed cell death after T-cell activation.</strong>
|
|
Nature 373: 444-448, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7530337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7530337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7530337" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/373444a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Kerr1972" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kerr, J. F. R., Wyllie, A. H., Currie, A. R.
|
|
<strong>Apoptosis: a basic biological phenomenon with wide-ranging implications in tissue kinetics.</strong>
|
|
Brit. J. Cancer 26: 239-257, 1972.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4561027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4561027</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4561027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/bjc.1972.33" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Landau2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Landau, A. M., Luk, K. C., Jones, M.-L., Siegrist-Johnstone, R., Young, Y. K., Kouassi, E., Rymar, V. V., Dagher, A., Sadikot, A. F., Desbarats, J.
|
|
<strong>Defective Fas expression exacerbates neurotoxicity in a model of Parkinson's disease.</strong>
|
|
J. Exp. Med. 202: 575-581, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16129703/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16129703</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16129703[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16129703" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1084/jem.20050163" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Lee1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, S. H., Shin, M. S., Kim, H. S., Park, W. S., Kim, S. Y., Jang, J. J., Rhim, K. J., Jang, J., Lee, H. K., Park, J. Y., Oh, R. R., Han, S. Y., Lee, J. H., Lee, J. Y., Yoo, N. J.
|
|
<strong>Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar.</strong>
|
|
J. Invest. Derm. 114: 122-126, 1999.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Lepple-Wienhues1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lepple-Wienhues, A., Belka, C., Laun, T., Jekle, A., Walter, B., Wieland, U., Welz, M., Heil, L., Kun, J., Busch, G., Weller, M., Bamberg, M., Gulbins, E., Lang, F.
|
|
<strong>Stimulation of CD95 (Fas) blocks T lymphocyte calcium channels through sphingomyelinase and sphingolipids.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 13795-13800, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10570152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10570152</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10570152[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10570152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.96.24.13795" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Lichter1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lichter, P., Walczak, H., Weitz, S., Behrmann, I., Krammer, P. H.
|
|
<strong>The human APO-1 (APT) antigen maps to 10q23, a region that is syntenic with mouse chromosome 19.</strong>
|
|
Genomics 14: 179-180, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1385299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1385299</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1385299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0888-7543(05)80302-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Ma2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ma, Y., Liu, H., Tu-Rapp, H., Thiesen, H.-J., Ibrahim, S. M., Cole, S. M., Pope, R. M.
|
|
<strong>Fas ligation on macrophages enhances IL-1R1-Toll-like receptor 4 signaling and promotes chronic inflammation.</strong>
|
|
Nature Immun. 5: 380-387, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15004557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15004557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15004557" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ni1054" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Mannick1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mannick, J. B., Hausladen, A., Liu, L., Hess, D. T., Zeng, M., Miao, Q. X., Kane, L. S., Gow, A. J., Stamler, J. S.
|
|
<strong>Fas-induced caspase denitrosylation.</strong>
|
|
Science 284: 651-654, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213689/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213689</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10213689" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.284.5414.651" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Martin1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Martin, D. A., Zheng, L., Siegel, R. M., Huang, B., Fisher, G. H., Wang, J., Jackson, C. E., Puck, J. M., Dale, J., Straus, S. E., Peter, M. E., Krammer, P. H., Fesik, S., Lenardo, M. J.
|
|
<strong>Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 4552-4557, 1999. Note: Erratum: Proc. Nat. Acad. Sci. 101: 7840 only, 2004.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10200300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10200300</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10200300[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10200300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.96.8.4552" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Mountz1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mountz, J. D., Talal, N.
|
|
<strong>Retroviruses, apoptosis and autogenes.</strong>
|
|
Immun. Today 14: 532-536, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8274195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8274195</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8274195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0167-5699(93)90182-K" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Oehm1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Oehm, A., Behrmann, I., Falk, W., Pawlita, M., Maier, G., Klas, C., Li-Weber, M., Richards, S., Dhein, J., Trauth, B. C., Ponstingl, H., Krammer, P. H.
|
|
<strong>Purification and molecular cloning of the APO-1 cell surface antigen, a member of the tumor necrosis factor/nerve growth factor receptor superfamily: sequence identity with the FAS antigen.</strong>
|
|
J. Biol. Chem. 267: 10709-10715, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1375228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1375228</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1375228" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Pestano1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pestano, G. A., Zhou, Y., Trimble, L. A., Daley, J., Weber, G. F., Cantor, H.
|
|
<strong>Inactivation of misselected CD8 T cells by CD8 gene methylation and cell death.</strong>
|
|
Science 284: 1187-1191, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10325233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10325233</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10325233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.284.5417.1187" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Rao1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rao, L. M., Shahidi, N. T., Opitz, J. M.
|
|
<strong>Hereditary splenomegaly with hypersplenism.</strong>
|
|
Clin. Genet. 5: 379-386, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4852259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4852259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4852259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1974.tb01710.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Raoul2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Raoul, C., Buhler, E., Sadeghi, C., Jacquier, A., Aebischer, P., Pettmann, B., Henderson, C. E., Haase, G.
|
|
<strong>Chronic activation in presymptomatic amyotrophic lateral sclerosis (ALS) mice of a feedback loop involving Fas, Daxx, and FasL.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 6007-6012, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16581901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16581901</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16581901[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16581901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.0508774103" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Raoul2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Raoul, C., Estevez, A. G., Nishimune, H., Cleveland, D. W., deLapeyriere, O., Henderson, C. E., Hasse, G., Pettmann, B.
|
|
<strong>Motoneuron death triggered by a specific pathway downstream of Fas: potentiation by ALS-linked SOD1 mutations.</strong>
|
|
Neuron 35: 1067-1083, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12354397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12354397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12354397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0896-6273(02)00905-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Rieux-Laucat1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rieux-Laucat, F., Blachere, S., Danielan, S., De Villartay, J. P., Oleastro, M., Solary, E., Bader-Meunier, B., Arkwright, P., Pondare, C., Bernaudin, F., Chapel, H., Nielsen, S., Berrah, M., Fischer, A., Le Deist, F.
|
|
<strong>Lymphoproliferative syndrome with autoimmunity: a possible genetic basis for dominant expression of the clinical manifestations.</strong>
|
|
Blood 94: 2575-2582, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10515860/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10515860</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10515860" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Rieux-Laucat1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rieux-Laucat, F., Le Deist, F., Hivroz, C., Roberts, I. A. G., Debatin, K. M., Fischer, A., de Villartay, J. P.
|
|
<strong>Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.</strong>
|
|
Science 268: 1347-1349, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.7539157" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Savinov2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Savinov, A. Y., Tcherepanov, A., Green, E. A., Flavell, R. A., Chervonsky, A. V.
|
|
<strong>Contribution of Fas to diabetes development.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 628-632, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12525697/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12525697</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12525697[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12525697" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.0237359100" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Scott2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Scott, F. L., Stec, B., Pop, C., Dobaczewska, M. K., Lee, J. J., Monosov, E., Robinson, H., Salvesen, G. S., Schwarzenbacher, R., Riedl, S. J.
|
|
<strong>The Fas-FADD death domain complex structure unravels signalling by receptor clustering.</strong>
|
|
Nature 457: 1019-1022, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19118384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19118384</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19118384[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19118384" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature07606" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Siegel2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Siegel, R. M., Frederiksen, J. K., Zacharias, D. A., Chan, F. K.-M., Johnson, M., Lynch, D., Tsien, R. Y., Lenardo, M. J.
|
|
<strong>Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.</strong>
|
|
Science 288: 2354-2357, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10875918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10875918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10875918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.288.5475.2354" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Sneller1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sneller, M. C., Straus, S. E., Jaffe, E. S., Jaffe, J. S., Fleisher, T. A., Stetler-Stevenson, M., Strober, W.
|
|
<strong>A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease.</strong>
|
|
J. Clin. Invest. 90: 334-341, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1386609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1386609</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1386609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI115867" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Song2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Song, E., Lee, S.-K., Wang, J., Ince, N., Ouyang, N., Min, J., Chen, J., Shankar, P., Lieberman, J.
|
|
<strong>RNA interference targeting Fas protects mice from fulminant hepatitis.</strong>
|
|
Nature Med. 9: 347-351, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12579197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12579197</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12579197" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nm828" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Talal1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Talal, N.
|
|
<strong>Oncogenes, autogenes, and rheumatic diseases.(Editorial)</strong>
|
|
Arthritis Rheum. 37: 1421-1422, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7945465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7945465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7945465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/art.1780371003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Vaishnaw1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vaishnaw, A. K., Orlinick, J. R., Chu, J.-L., Krammer, P. H., Chao, M. V., Elkton, K. B.
|
|
<strong>The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.</strong>
|
|
J. Clin. Invest. 103: 355-363, 1999. Note: Erratum: J. Clin. Invest. 103: 1099 only, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9927496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9927496</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9927496[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9927496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1172/JCI5121" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="van der Burg2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
van der Burg, M., de Groot, R., Comans-Bitter, W. M., den Hollander, J. C., Hooijkaas, H., Neijens, H. J., Berger, R. M. F., Oranje, A. P., Langerak, A. W., van Dongen, J. J. M.
|
|
<strong>Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?</strong>
|
|
Pediat. Res. 47: 336-343, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10709732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10709732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10709732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1203/00006450-200003000-00009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Viard1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Viard, I., Wehrli, P., Bullani, R., Schneider, P., Holler, N., Salomon, D., Hunziker, T., Saurat, J.-H., Tschopp, J., French, L. E.
|
|
<strong>Inhibition of toxic epidermal necrolysis by blockade of CD95 with human intravenous immunoglobulin.</strong>
|
|
Science 282: 490-493, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9774279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9774279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9774279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.282.5388.490" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="Volpert2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Volpert, O. V., Zaichuk, T., Zhou, W., Reiher, F., Ferguson, T. A., Stuart, P. M., Amin, M., Bouck, N. P.
|
|
<strong>Inducer-stimulated Fas targets activated endothelium for destruction by anti-angiogenic thrombospondin-1 and pigment epithelium-derived factor.</strong>
|
|
Nature Med. 8: 349-357, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11927940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11927940</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11927940" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nm0402-349" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Watanabe-Fukunaga1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Watanabe-Fukunaga, R., Brannan, C. I., Copeland, N. G., Jenkins, N. A., Nagata, S.
|
|
<strong>Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis.</strong>
|
|
Nature 356: 314-317, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/356314a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Watanabe-Fukunaga1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Watanabe-Fukunaga, R., Brannan, C. I., Itoh, N., Yonehara, S., Copeland, N. G., Jenkins, N. A., Nagata, S.
|
|
<strong>The cDNA structure, expression, and chromosomal assignment of the mouse Fas antigen.</strong>
|
|
J. Immun. 148: 1274-1279, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1371136/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1371136</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1371136" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Weant2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weant, A. E., Michalek, R. D., Khan, I. U., Holbrook, B. C., Willingham, M. C., Grayson, J. M.
|
|
<strong>Apoptosis regulators Bim and Fas function concurrently to control autoimmunity and CD8+ T cell contraction.</strong>
|
|
Immunity 28: 218-230, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18275832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18275832</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18275832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.immuni.2007.12.014" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="57" class="mim-anchor"></a>
|
|
<a id="Wu1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wu, J., Zhou, T., He, J., Mountz, J. D.
|
|
<strong>Autoimmune disease in mice due to integration of an endogenous retrovirus in an apoptosis gene.</strong>
|
|
J. Exp. Med. 178: 461-468, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7688023/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7688023</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7688023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1084/jem.178.2.461" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="58" class="mim-anchor"></a>
|
|
<a id="Yan2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yan, M.-D., Hong, C.-C., Lai, G.-M., Cheng, A.-L., Lin, Y.-W., Chuang, S.-E.
|
|
<strong>Identification and characterization of a novel gene Saf transcribed from the opposite strand of Fas.</strong>
|
|
Hum. Molec. Genet. 14: 1465-1474, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15829500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15829500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15829500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddi156" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="59" class="mim-anchor"></a>
|
|
<a id="Zhang2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zhang, X., Miao, X., Sun, T., Tan, W., Qu, S., Xiong, P., Zhou, Y., Lin, D.
|
|
<strong>Functional polymorphisms in cell death pathway genes FAS and FASL contribute to the risk of lung cancer.</strong>
|
|
J. Med. Genet. 42: 479-484, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937082</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15937082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.2004.030106" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="60" class="mim-anchor"></a>
|
|
<a id="Zou2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zou, C., Ma, J., Wang, X., Guo, L., Zhu, Z., Stoops, J., Eaker, A. E., Johnson, C. J., Strom, S., Michalopoulos, G. K., DeFrances, M. C., Zarnegar, R.
|
|
<strong>Lack of Fas antagonism by Met in human fatty liver disease.</strong>
|
|
Nature Med. 13: 1078-1085, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17704785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17704785</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17704785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nm1625" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Paul J. Converse - updated : 8/9/2012
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Paul J. Converse - updated : 8/3/2012<br>Cassandra L. Kniffin - updated : 5/10/2011<br>Ada Hamosh - updated : 6/30/2010<br>Ada Hamosh - updated : 9/15/2009<br>Ada Hamosh - updated : 3/10/2009<br>George E. Tiller - updated : 6/5/2008<br>Ada Hamosh - updated : 3/27/2008<br>Cassandra L. Kniffin - updated : 6/2/2006<br>Paul J. Converse - updated : 4/3/2006<br>Marla J. F. O'Neill - updated : 7/21/2005<br>Cassandra L. Kniffin - reorganized : 11/17/2004<br>Victor A. McKusick - updated : 10/22/2004<br>Victor A. McKusick - updated : 7/2/2004<br>Paul J. Converse - updated : 4/19/2004<br>Cassandra L. Kniffin - updated : 6/6/2003<br>Patricia A. Hartz - updated : 4/28/2003<br>Ada Hamosh - updated : 2/27/2003<br>Victor A. McKusick - updated : 2/12/2003<br>Victor A. McKusick - updated : 1/15/2003<br>Ada Hamosh - updated : 4/9/2002<br>Ada Hamosh - updated : 10/30/2000<br>John A. Phillips, III - updated : 10/2/2000<br>Ada Hamosh - updated : 6/29/2000<br>Gary A. Bellus - updated : 6/13/2000<br>Victor A. McKusick - updated : 5/1/2000<br>Paul J. Converse - updated : 4/20/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Ada Hamosh - updated : 5/13/1999<br>Ada Hamosh - updated : 5/10/1999<br>Victor A. McKusick - updated : 5/4/1999<br>Victor A. McKusick - updated : 4/9/1999<br>Victor A. McKusick - updated : 4/2/1999<br>Victor A. McKusick - updated : 3/16/1999<br>Victor A. McKusick - updated : 1/25/1999<br>Ada Hamosh - updated : 10/15/1998<br>Victor A. McKusick - updated : 11/13/1997<br>Victor A. McKusick - updated : 4/4/1997<br>Victor A. McKusick - updated : 3/4/1997
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 5/28/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 05/15/2015
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
mcolton : 5/12/2015<br>alopez : 12/4/2014<br>carol : 12/1/2014<br>carol : 4/11/2013<br>carol : 12/10/2012<br>mgross : 9/4/2012<br>terry : 8/9/2012<br>mgross : 8/6/2012<br>mgross : 8/6/2012<br>terry : 8/3/2012<br>carol : 5/23/2012<br>terry : 1/17/2012<br>alopez : 8/25/2011<br>alopez : 6/17/2011<br>wwang : 5/23/2011<br>ckniffin : 5/10/2011<br>alopez : 7/1/2010<br>terry : 6/30/2010<br>alopez : 9/15/2009<br>terry : 9/15/2009<br>alopez : 3/12/2009<br>terry : 3/10/2009<br>wwang : 6/18/2008<br>terry : 6/5/2008<br>alopez : 3/27/2008<br>wwang : 6/2/2006<br>mgross : 4/5/2006<br>terry : 4/3/2006<br>carol : 10/3/2005<br>carol : 9/30/2005<br>wwang : 7/25/2005<br>terry : 7/21/2005<br>carol : 11/17/2004<br>ckniffin : 11/3/2004<br>terry : 10/22/2004<br>tkritzer : 7/7/2004<br>terry : 7/2/2004<br>mgross : 4/19/2004<br>alopez : 4/13/2004<br>carol : 6/12/2003<br>ckniffin : 6/6/2003<br>tkritzer : 5/7/2003<br>cwells : 5/1/2003<br>terry : 4/28/2003<br>alopez : 3/4/2003<br>terry : 2/27/2003<br>mgross : 2/21/2003<br>terry : 2/12/2003<br>cwells : 1/15/2003<br>terry : 1/15/2003<br>terry : 4/22/2002<br>cwells : 4/17/2002<br>cwells : 4/15/2002<br>terry : 4/9/2002<br>mcapotos : 10/4/2001<br>mgross : 10/30/2000<br>mgross : 10/11/2000<br>terry : 10/2/2000<br>carol : 6/29/2000<br>alopez : 6/13/2000<br>mcapotos : 5/26/2000<br>mcapotos : 5/25/2000<br>terry : 5/1/2000<br>carol : 4/20/2000<br>carol : 4/20/2000<br>terry : 1/19/2000<br>carol : 10/26/1999<br>alopez : 5/13/1999<br>terry : 5/13/1999<br>alopez : 5/10/1999<br>mgross : 5/10/1999<br>mgross : 5/10/1999<br>mgross : 5/7/1999<br>terry : 5/4/1999<br>carol : 4/12/1999<br>terry : 4/9/1999<br>carol : 4/2/1999<br>carol : 3/17/1999<br>terry : 3/16/1999<br>mgross : 2/8/1999<br>terry : 1/25/1999<br>alopez : 12/18/1998<br>alopez : 12/18/1998<br>alopez : 10/15/1998<br>dkim : 9/11/1998<br>terry : 5/29/1998<br>terry : 11/13/1997<br>terry : 11/12/1997<br>mark : 7/22/1997<br>mark : 7/22/1997<br>alopez : 7/21/1997<br>mark : 6/11/1997<br>jenny : 4/4/1997<br>terry : 4/1/1997<br>mark : 3/4/1997<br>jamie : 3/4/1997<br>terry : 3/3/1997<br>mark : 6/25/1996<br>mark : 10/18/1995<br>carol : 3/7/1995<br>carol : 4/6/1993<br>carol : 11/5/1992<br>carol : 10/13/1992<br>carol : 10/7/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 134637
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
FAS CELL SURFACE DEATH RECEPTOR; FAS
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6; TNFRSF6<br />
|
|
APOPTOSIS ANTIGEN 1; APT1<br />
|
|
FAS ANTIGEN<br />
|
|
SURFACE ANTIGEN APO1; APO1<br />
|
|
CD95
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: FAS</em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 10q23.31
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 10:88,964,050-89,017,059 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="3">
|
|
<span class="mim-font">
|
|
10q23.31
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
{Autoimmune lymphoproliferative syndrome}
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601859
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autoimmune lymphoproliferative syndrome, type IA
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601859
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Squamous cell carcinoma, burn scar-related, somatic
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Itoh et al. (1991) isolated cDNAs encoding the human FAS antigen from a human T-cell lymphoma cDNA library. Sequence analysis predicted a 16-amino acid signal sequence followed by a mature protein of 319 amino acids with a single transmembrane domain and a molecular mass of approximately 36 kD. The FAS antigen shows structural homology with a number of cell surface receptors, including tumor necrosis factor (TNF) receptors (191190, 191191) and the low-affinity nerve growth factor receptor (NGFR; 162010). Northern blot analysis detected 2.7- and 1.9-kb FAS mRNAs in thymus, liver, ovary, and heart. Functional expression studies in mouse cells showed that the FAS antigen induced antibody-triggered apoptosis. </p><p>Watanabe-Fukunaga et al. (1992) isolated mouse Fas antigen from a murine macrophage cDNA library. The deduced 306-amino acid sequence shares 49.3% sequence identity with the human sequence. Northern blot analysis detected a 2.1-kb Fas antigen mRNA in mouse thymus, heart, liver, and ovary. </p><p>Oehm et al. (1992) demonstrated that the 48-kD APO1 antigen, defined by the mouse monoclonal antibody anti-APO1, is the same as the FAS antigen. APO1 was expressed on the cell surface of various normal and malignant cells, including activated human T and B lymphocytes and a variety of malignant human lymphoid cell lines, and binding of anti-APO1 antibody to the APO1 antigen induced apoptosis. </p><p><strong><em>Antisense Transcript SAF</em></strong></p><p>
|
|
Yan et al. (2005) described a novel RNA transcribed from the opposite strand of intron 1 of the human FAS gene, which they named SAF. The 1.5-kb transcript was expressed in human heart, placenta, liver, muscle, and pancreas, as well as in several cancer cell lines. SAF-transfected Jurkat cells were highly resistant to FAS-mediated but not to TNF-alpha (191160)-mediated apoptosis, compared to control transfectants. Although the overall mRNA expression level of FAS was not affected, expression of some novel forms of FAS transcripts was increased in SAF-transfected cells. Yan et al. (2005) hypothesized that SAF may protect T lymphocytes from FAS-mediated apoptosis by blocking the binding of FASL or its agonistic FAS antibody, and that SAF may regulate expression of FAS alternative splice forms through pre-mRNA processing. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Yan et al. (2005) noted that the TNFRSF6 gene contains 9 exons. They identified an antisense transcript SAF within the 12.1-kb intron 1 that is transcribed in the opposite direction as the TNFRSF6 gene. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Inazawa et al. (1992) mapped the human FAS gene to chromosome 10q24.1 by fluorescence in situ hybridization. Using cosmid DNA containing the FAS gene as a probe for fluorescence in situ hybridization, Lichter et al. (1992) mapped the FAS gene to a subregion of chromosomal band 10q23; the analysis showed that the FAS gene is located just distal to the central part of band 10q23. </p><p>Watanabe-Fukunaga et al. (1992) mapped the mouse Fas gene to the distal region of chromosome 19. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Talal (1994) used the term 'autogene,' a neologism, to refer to a gene whose abnormal function contributes to the development of autoimmune disease; the term is parallel to the term oncogene and the role of its product in malignancy. Mountz and Talal (1993) suggested that FAS is the first known autogene. </p><p>Dhein et al. (1995) found that T-cell receptor-induced apoptosis was mediated by an APO1 ligand and APO1 in vitro. Apoptosis was significantly reduced by inhibition of anti-APO1 antibodies. Brunner et al. (1995) showed that the Fas antigen receptor was rapidly expressed on T cells following activation of T-cell hybridomas, and that the interaction between FAS and FAS ligand (FASL, CD95L, or TNFSF6; 134638) induced cell death in a cell-autonomous manner consistent with apoptosis. Interference with the FAS/FASL interaction inhibited activation-induced apoptosis. Ju et al. (1995) also showed that the interaction between FAS and FASL results in activation-induced T-cell death. </p><p>Viard et al. (1998) detected high levels of soluble FASL in the sera of patients with toxic epidermal necrolysis (TEN; 608579). Keratinocytes of TEN patients produced FASL, which induced keratinic apoptosis. In vitro, intravenous immunoglobulin (IVIG) completely inhibited FAS-mediated keratinocyte apoptosis, and in vivo, 10 TEN patients treated with IVIG showed rapid improvement in skin disease. The authors noted that a naturally occurring anti-FAS immunoglobulin present in IVIG blocked the FAS receptor and mediated this response. </p><p>Hueber et al. (1997) demonstrated that MYC (190080)-induced apoptosis required interaction on the cell surface between CD95 and its ligand. The findings linked 2 apoptotic pathways previously thought to be independent and established the dependence of MYC on CD95 signaling for its killing activity. </p><p>Pestano et al. (1999) identified a differentiative pathway taken by CD8 cells bearing receptors that cannot engage class I MHC (see 142800) self-peptide molecules because of incorrect thymic selection, defects in peripheral MHC class I expression, or antigen presentation. In any of these cases, failed CD8 T-cell receptor coengagement results in downregulation of genes that account for specialized cytolytic T-lymphocyte function and resistance to cell death (CD8-alpha/beta, see 186730; granzyme B, 123910; and LKLF, 602016), and upregulation of FAS and FASL death genes. Thus, MHC engagement is required to inhibit expression and delivery of a death program rather than to supply a putative trophic factor for T cell survival. Pestano et al. (1999) hypothesized that defects in delivery of the death signal to these aberrant T cells underlie the explosive growth and accumulation of double-negative T cells in animals bearing FAS and FASL mutations, in patients who carry inherited mutations of these genes, and in about 25% of systemic lupus erythematosus patients who display the cellular signature of defects in this mechanism of quality control of CD8 cells. </p><p>Mannick et al. (1999) demonstrated that FAS activates caspase-3 (600636) by inducing the cleavage of the caspase zymogen to its active subunits and by stimulating the denitrosylation of its active site thiol. </p><p>Hueber (2000) described the signaling pathway leading to apoptosis. FAS (CD95) crosslinking with FAS ligand (CD95L) results in the formation of a death-inducing signaling complex (DISC) composed of CD95, the signal adaptor protein FADD (602457), and procaspase-8. This association generates CASP8 (601763), activating a cascade of caspases. Lepple-Wienhues et al. (1999) showed that in addition to the role of CD95 in inducing cell death, stimulation of CD95 inhibits the influx of calcium normally induced by activation of the T-cell antigen receptor, in part by not affecting the release of calcium from intracellular stores. This block in calcium entry can be mimicked by stimulating T cells with acid sphingomyelinase metabolites of the plasma membrane lipid sphingomyelin, such as ceramide and sphingosine. </p><p>Arscott et al. (1999) examined FAS expression in thyroid tissue derived from patients with papillary carcinoma and follicular cancer. More intense immunohistologic staining for the FAS protein was observed on papillary cancer cells as compared with adjacent normal follicles. FAS expression was detected at levels up to 3-fold higher in cancerous thyrocytes compared with paired normal cells. The authors concluded that the FAS antigen is expressed and functional on papillary thyroid cancer cells and that this may have potential therapeutic significance. </p><p>Grassme et al. (2000) showed that Pseudomonas aeruginosa infection induced apoptosis of lung epithelial cells by activation of the endogenous CD95/CD95L system. Deficiency of CD95 or CD95L on epithelial cells prevented apoptosis of lung epithelial cells in vivo as well as in vitro. The importance of CD95/CD95L-mediated lung epithelial cell apoptosis was demonstrated by the rapid development of sepsis in mice deficient in either CD95 or CD95L, but not in normal mice, after P. aeruginosa infection. </p><p>Natural inhibitors of angiogenesis are able to block pathologic neovascularization without harming the preexisting vasculature. Volpert et al. (2002) demonstrated that 2 such inhibitors, thrombospondin I (188060) and pigment epithelium-derived factor (172860), induced FAS/FASL-mediated apoptosis to block angiogenesis. Both inhibitors upregulated FASL on endothelial cells. Expression of FAS antigen on endothelial cells and vessels was greatly enhanced by inducers of angiogenesis, thereby specifically sensitizing the stimulated cells to apoptosis by inhibitor-generated FASL. The antiangiogenic activity of thrombospondin I and pigment epithelium-derived factor both in vitro and in vivo was dependent on this dual induction of FAS and FASL and the resulting apoptosis. Volpert et al. (2002) concluded that this example of cooperation between pro- and antiangiogenic factors in the inhibition of angiogenesis provided one explanation for the ability of inhibitors to select remodeling capillaries for destruction. </p><p>Raoul et al. (2002) showed that FAS triggers cell death specifically in motor neurons by transcriptional upregulation of neuronal nitric oxide synthase (nNOS; 163731) mediated by p38 kinase (600289). ASK1 (602448) and Daxx (603186) act upstream of p38 in the FAS signaling pathway. The authors also showed that synergistic activation of the NO pathway and the classic FADD/CASP8 pathway were needed for motor neuron cell death. No evidence for involvement of the FAS/NO pathway was found in other cell types. Motor neurons from transgenic mice expressing amyotrophic lateral sclerosis (ALS; 105400)-linked SOD1 (147450) mutations displayed increased susceptibility to activation of the FAS/NO pathway. Raoul et al. (2002) emphasized that this signaling pathway was unique to motor neurons and suggested that these cell pathways may contribute to motor neuron loss in ALS. Raoul et al. (2006) reported that exogenous NO triggered expression of FASL in cultured motoneurons. In motoneurons from ALS model mice with mutations in the SOD1 gene, this upregulation resulted in activation of Fas, leading through Daxx and p38 to further NO synthesis. The authors suggested that chronic low-activation of this feedback loop may underlie the slowly progressive motoneuron loss characteristic of ALS. </p><p>Using mouse primary neurons and a human neuroblastoma cell line, Desbarats et al. (2003) determined that FAS can mediate neurite growth. Activation of FAS resulted in axon regeneration in primary neurons and accelerated functional recovery after sciatic nerve injury in vivo. Desbarats et al. (2003) determined that activation triggered a nerve growth factor (162030)-independent signaling pathway that included activation of ERK (see 176872) and the expression of p35 (603460). </p><p>Zou et al. (2007) reported that the hepatocyte growth factor receptor MET (164860) plays an important part in preventing FAS-mediated apoptosis of hepatocytes by sequestering FAS. They also showed that FAS antagonism by MET is abrogated in human fatty liver disease. Through structure-function studies, the authors found that a YLGA amino acid motif located near the extracellular N terminus of the MET alpha subunit is necessary and sufficient to specifically bind the extracellular portion of FAS and to act as a potential FAS ligand (FASL; 134638) antagonist and inhibitor of FAS trimerization. Using mouse models of fatty liver disease, Zou et al. (2007) showed that synthetic YLGA peptide tempers hepatocyte apoptosis and liver damage and therefore has therapeutic potential. </p><p>As summarized by Jost et al. (2009), distinct cell types differ in the mechanisms by which the 'death receptor' FAS triggers their apoptosis. In type I cells, such as lymphocytes, activation of effector caspases by FAS-induced activation of caspase-8 (601763) suffices for cell killing; in type II cells, including hepatocytes and pancreatic beta-cells, caspase cascade amplification through caspase-8-mediated activation of the proapoptotic BID (601197) is essential. Jost et al. (2009) demonstrated that loss of XIAP (300079) function by gene targeting or treatment with a DIABLO (605219) mimetic drug in mice rendered hepatocytes and beta-cells independent of BID for FAS-induced apoptosis. Jost et al. (2009) concluded that their results showed that XIAP is the critical discriminator between type I and type II apoptosis signaling and suggested that IAP inhibitors should be used with caution in cancer patients with underlying liver conditions. </p><p>Chen et al. (2010) demonstrated that cancer cells in general, regardless of their CD95 apoptosis sensitivity, depend on constitutive activity of CD95, stimulated by a cancer-produced CD95L (134638), for optimal growth. Consistently, loss of CD95 in mouse models of ovarian cancer and liver cancer reduces cancer incidence as well as the size of the tumors. The tumorigenic activity of CD95 is mediated by a pathway involving JNK (601158) and JUN (165160). These results demonstrated that CD95 has a growth-promoting role during tumorigenesis and indicated that efforts to inhibit its activity should be considered during cancer therapy. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Crystal Structure</em></strong></p><p>
|
|
FAS, FADD (602457), and caspase-8 (CASP8; 601763) form a death-inducing signaling complex (DISC) that is a pivotal trigger of apoptosis. Scott et al. (2009) successfully formed and isolated the human FAS-FADD death domain complex and reported the 2.7-angstrom crystal structure. The complex shows a tetrameric arrangement of 4 FADD death domains bound to 4 FAS death domains. Scott et al. (2009) showed that an opening of the FAS death domain exposes the FADD binding site and simultaneously generates a FAS-FAS bridge. The result is a regulatory FAS-FADD complex bridge governed by weak protein-protein interactions revealing a model where the complex itself functions as a mechanistic switch. This switch prevents accidental DISC assembly, yet allows for highly processive DISC formation and clustering upon a sufficient stimulus. Scott et al. (2009) concluded that, in addition to depicting a previously unknown mode of death domain interactions, their results further uncovered a mechanism for receptor signaling solely by oligomerization and clustering events. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 5 unrelated children with a rare autoimmune lymphoproliferative syndrome (ALPS; 601859) Fisher et al. (1995) identified a heterozygous mutation in the FAS antigen gene (134637.0001-134637.0005). The disorder was characterized by massive nonmalignant lymphadenopathy, autoimmune phenomena, and expanded populations of TCR-CD3(+)CD4(-)CD8(-) lymphocytes, and each child had defective FAS-mediated T-lymphocyte apoptosis in vitro. One mutation appeared to cause a simple loss of function (134637.0001); however, 4 others had a dominant-negative phenotype when coexpressed with normal FAS. One of the patients studied by Fisher et al. (1995) was included in the report by Sneller et al. (1992), delineating this disorder and pointing out its resemblance to autosomal recessive lpr/gld disease in the mouse. The lpr and gld mice bear mutated genes for CD95 and CD95 ligand, respectively. </p><p>Rieux-Laucat et al. (1995) analyzed expression of the FAS antigen and its function in 3 children with a lymphoproliferative syndrome, 2 of whom also had autoimmune disorders. The most severely affected patient had a large deletion in the FAS gene and no detectable cell surface expression. Clinical manifestations in the other 2 patients were less severe: FAS-mediated apoptosis was impaired and a deletion within the intracytoplasmic domain was detected. </p><p>Aspinall et al. (1999) identified 2 novel mutations in FAS that cause ALPS. </p><p>Holzelova et al. (2004) reported 6 children with type III ALPS, defined as having phenotypic features of ALPS, including elevated numbers of double-negative T cells and hypergammaglobulinemia, but normal FAS-mediated apoptosis of T cells in vitro. Double-negative T cells from all 6 patients showed heterozygous mutations in the FAS gene (see, e.g., 134637.0018). In 2 affected patients, FAS mutations were found in a fraction of CD4+ and CD8+ T cells, monocytes, and CD34+ hematopoietic precursors, but not in hair or mucosal epithelial cells, demonstrating somatic mosaicism. The study demonstrated that peripheral lymphocytes with a dominant somatic FAS mutation exhibit a selective advantage by resisting apoptosis, thus accumulating and becoming double-negative T cells. </p><p>Clementi et al. (2004) reported a 27-year-old man with ALPS who developed a large B-cell lymphoma. Genetic analysis identified a heterozygous mutation in the FAS gene and another in the perforin gene (PRF1; 170280). The FAS mutation was inherited from his healthy father and was also carried by his healthy brother, whereas the PRF1 mutation was inherited from his healthy mother. The authors concluded that the combined effect of the 2 mutant genes contributed to the development of ALPS and lymphoma in this patient. </p><p>Dowdell et al. (2010) found that 12 (38.7%) of 31 ALPS patients who were negative for germline FAS mutations carried heterozygous somatic FAS mutations in their double-negative T cells. All of the 12 somatic mutations resulted in known or predicted functional loss of normal FAS signaling; 10 mutations led to a premature stop codon. Patients with somatic FAS mutations were clinically similar to those with germline FAS mutations, although they had a slightly lower incidence of splenectomy and lower lymphocyte counts. </p><p><strong><em>Role in Neoplasms</em></strong></p><p>
|
|
Using microdissection techniques to isolate tumor cells from biopsies of 21 burn scar-related squamous cell carcinomas, Lee et al. (1999) analyzed the entire FAS coding region and all of the splice sites and found somatic point mutations in 3 cases. No mutations were detected in 50 cases of conventional squamous cell carcinoma. The FAS mutations were located within the death domain (N239D; 134637.0014), ligand-binding domain (N102S; 134637.0015) and transmembrane domain (C162R; 134637.0016). Loss of heterozygosity (LOH) of the other FAS allele was demonstrated in tumors carrying the N239D and C162R mutations, and expression of FAS was confirmed in all tumors with FAS mutations. Burn scar-related squamous cell carcinomas are usually more aggressive than conventional squamous cell carcinomas, and Lee et al. (1999) suggested that somatic mutations in FAS may contribute to the development and/or progression of burn scar-related squamous cell carcinomas.</p><p>Zhang et al. (2005) genotyped 1,000 Han Chinese lung cancer (211980) patients and 1,270 controls for 2 functional polymorphisms in the promoter regions of the FAS and FASL genes, -1377G-A (134637.0021) and -844T-C (134638.0002), respectively. Compared to noncarriers, there was an increased risk of developing lung cancer for carriers of either the FAS -1377AA or the FASL -844CC genotype; carriers of both homozygous genotypes had a more than 4-fold increased risk. Zhang et al. (2005) stated that these results support the hypothesis that the FAS- and FASL-triggered apoptosis pathway plays an important role in human carcinogenesis. </p><p><strong><em>Other Associations</em></strong></p><p>
|
|
The TNFRSF6 gene is situated on 10q in a region implicated in several linkage studies of Alzheimer disease (AD6; 605526). Feuk et al. (2000) found an association between early-onset nonfamilial AD and a promoter polymorphism in the TNFRSF6 gene. Feuk et al. (2003) further investigated the TNFRSF6 region in 121 patients with early-onset dementia and 152 controls. Analysis showed linkage disequilibrium clustered in 2 large blocks containing a limited number of haplotypes. Genotyping of haplotype tagging markers in an additional 204 late-onset AD cases and 177 controls showed that the previously associated marker, located in the promoter of TNFRSF6, had significant association with cognitive status in Scottish early-onset dementia samples, with the strongest signals being evident in the subgroup who carried APOE4 (see 107741). The results, together with previous data, suggested that a promoter marker in TNFRSF6 plays a moderate but demonstrable role in AD etiology. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In a study of 8 patients with ALPS caused by mutation in the CD95 gene, Vaishnaw et al. (1999) found that mutations in and around the death domain had a dominant-negative effect that was explained by interference with the recruitment of the signal adaptor protein FADD to the death domain. The intracellular domain (ICD) mutations were associated with a highly penetrant phenotype and an autosomal dominant inheritance pattern. In contrast, mutations affecting the extracellular domain (ECD) of the protein resulted in failure of extracellular expression of CD95 or impaired binding to CD95 ligand; these mutations did not have a dominant-negative effect. In each of the families with an ECD mutation, only a single individual was affected. These observations were consistent with different mechanisms of action and modes of inheritance of ICD and ECD mutations, suggesting that individuals with an ECD mutation may require additional defect(s) for expression of ALPS. </p><p>Jackson et al. (1999) found that of 17 unique APT1 mutations in unrelated ALPS probands, 12 (71%) occurred in exons 7 to 9, which encode the intracellular portion of FAS. In vitro, activated lymphocytes from all 17 patients showed apoptotic defects when exposed to an anti-FAS agonist monoclonal antibody. In cotransfection experiments, FAS constructs with either intra- or extracellular mutations caused dominant inhibition of apoptosis mediated by wildtype FAS; however, mutations affecting the intracellular domain resulted in more severe inhibition of apoptosis and showed a higher penetrance of the ALPS phenotype. Significant ALPS-related morbidity occurred in 44% of relatives with intracellular mutations, versus 0% of relatives with extracellular mutations. Jackson et al. (1999) concluded that the location of mutations within APT1 strongly influences the development and the severity of ALPS. </p><p>Martin et al. (1999) contributed to the understanding of the mechanism by which heterozygous mutations in the CD95 receptor result in dominant interference with apoptosis leading to ALPS. They showed that local or global alterations in the structure of the cytoplasmic death domain from 9 independent ALPS CD95 death-domain mutations resulted in a failure to bind the FADD/MORT1 signaling protein. Despite heterozygosity for the abnormal allele, lymphocytes from ALPS patients showed markedly decreased FADD association and a loss of caspase recruitment and activation after CD95 crosslinking. These data suggested that intracytoplasmic CD95 mutations in ALPS impair apoptosis chiefly by disrupting death-domain interactions with the signaling protein FADD/MORT1. </p><p>Siegel et al. (2000) found that dominant interference of FAS mutations stems from ligand-independent interaction of wildtype and mutant FAS receptors through a specific region of the extracellular domain, rather than depending upon ligand-induced receptor oligomerization, This domain, located within the first cysteine-rich domain, is termed the pre-ligand assembly domain (PLAD). Siegel et al. (2000) identified preassociated FAS complexes in living cells by means of fluorescence resonance energy transfer. In a large number of ALPS patients, they found that the PLAD was preserved in every example of dominant-negative mutation. To cause dominant interference, the mutant protein must physically interact with the wildtype protein in a preassociated receptor complex which normally permits FAS signaling. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Watanabe-Fukunaga et al. (1992) noted that the murine phenotype autosomal recessive lymphoproliferation (lpr) is characterized by lymphadenopathy, hypergammaglobulinemia, multiple autoantibodies, and the accumulation of large numbers of nonmalignant CD4-, CD8- T cells. Affected mice usually develop a systemic lupus erythematosus (SLE; 152700)-like autoimmune disease. Studies suggested a defect in the negative selection of self-reactive T lymphocytes in the thymus. In lpr mice, Watanabe-Fukunaga et al. (1992) identified a 786T-A transversion in the Fas gene, resulting in an asparagine-to-isoleucine substitution in a highly conserved cytoplasmic region of the protein, demonstrating that lpr is the gene for the mouse Fas antigen. The authors noted that Frizzera et al. (1989) had identified human patients displaying a phenotype similar to that of lpr mice (see 601859). </p><p>Wu et al. (1993) observed autoimmune disease in mice due to integration of endogenous retrovirus in the Fas gene. </p><p>Savinov et al. (2003) evaluated the importance of Fas in the pathogenesis of diabetes by generating NOD mice (nonobese diabetic mice that develop spontaneous autoimmune diabetes) with beta cell-specific expression of a dominant-negative point mutation in the Fas death domain. Spontaneous diabetes was significantly delayed in these mice, and the effect depended on the expression level of the transgene. However, mice bearing the transgene were still sensitive to diabetes transferred by splenocytes from overtly diabetic NOD mice. At the same time, expression of the transgene neutralized the accelerating effect of transgenic Fas ligand expressed by the same beta cells. The authors concluded that both Fas-dependent and -independent mechanisms are involved in beta cell destruction, but interference with the Fas pathway early in disease development may retard or prevent diabetes progression. </p><p>Song et al. (2003) investigated the in vivo silencing effect of small interfering RNA (siRNA) duplexes targeting the FAS gene to protect mice from liver failure and fibrosis in 2 models of autoimmune hepatitis. Intravenous injection of Fas siRNA specifically reduced Fas mRNA levels and expression of Fas protein in mouse hepatocytes, and the effects persisted without diminution for 10 days. Hepatocytes isolated from these mice were resistant to apoptosis when exposed to Fas-specific antibody or cocultured with concanavalin-A-stimulated hepatic mononuclear cells. Treatment with Fas siRNA 2 days before concanavalin-A challenge abrogated hepatocyte necrosis and inflammatory infiltration and markedly reduced serum concentrations of transaminases. In a more fulminant hepatitis induced by injecting agonistic Fas-specific antibody, 82% of mice treated with siRNA that effectively silenced Fas survived for 10 days of observation, whereas all control mice died within 3 days. </p><p>Ma et al. (2004) observed that Fas-deficient (lpr/lpr) mice had less severe collagen-induced arthritis, but higher levels of Il1b (147720) in joints, than control mice, suggesting inefficient activation through Il1r1 (147810). Fas- and Fasl-deficient mouse macrophages and human macrophages treated with an antagonistic FASL antibody had suppressed NFKB (see 164011) activation and cytokine production in response to IL1B or lipopolysaccharide. Ectopic expression of FADD or dominant-negative FADD (containing the death domain only) suppressed MYD88 (602170)-induced NFKB and IL6 (147620) promoter activation and cytokine expression. Ma et al. (2004) concluded that the FAS-FASL interaction enhances activation through the IL1R1 or TLR4 (603030) pathway, possibly contributing to the pathogenesis of chronic arthritis. </p><p>Landau et al. (2005) found that Fas-deficient lymphoproliferative mice developed a Parkinson disease (PD; 168600) phenotype, characterized by extensive nigrostriatal degeneration accompanied by tremor, hypokinesia, and loss of motor coordination, after treatment with the dopaminergic neurotoxin MPTP at a dose that caused no phenotype in wildtype mice. Mice with mutated Fasl and generalized lymphoproliferative disease had an intermediate phenotype. Treatment of cultured midbrain neurons with Fasl to induce Fas signaling protected them from MPTP toxicity. Mice lacking only Fas exon 9, which encodes the death domain, but retaining the intracellular Fas domain and cell surface expression of Fas, were resistant to MPTP. Peripheral blood lymphocytes from patients with idiopathic PD showed a highly significant deficit in their ability to upregulate Fas after mitogen stimulation. Landau et al. (2005) concluded that reduced FAS expression increases susceptibility to neurodegeneration and that FAS has a role in neuroprotection. </p><p>Hutcheson et al. (2008) found that patients with SLE displayed increased expression of antiapoptotic members of the BCL2 (151430) and FAS apoptotic pathways in mononuclear cells. They found that Fas lpr/lpr mice that also lacked the BCL2 proapoptotic member Bim (Bim -/-) developed severe SLE-like disease by 16 weeks of age, whereas Bim -/- or Fas lpr/lpr mice did not. Antigen-presenting cells (APCs) from Bim -/- Fas lpr/lpr double-mutant mice were markedly activated and their numbers were increased in lymphoid tissues and kidneys, though numerous apoptotic (TUNEL-positive) cells were observed in glomeruli of these mice. Hutcheson et al. (2008) concluded that dysregulation of the BCL2 or FAS pathways can alter the function of APCs and lead to SLE pathogenesis. </p><p>Weant et al. (2008) found that mice lacking both Bim and Fas showed a synergistic disruption of lymphoid homeostasis, rapid onset of autoimmunity, and organ-specific blocks on contraction of antiviral immune responses. The double-mutant mice had 100-fold more antigen-specific memory Cd8-positive T cells in their lymph nodes than did wildtype mice. Weant et al. (2008) concluded that multiple death pathways function concurrently to balance proliferation and apoptosis and to prevent autoimmunity and downsize T-cell responses. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Nomenclature</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Beautyman (1995) stated that the word 'apoptosis' was 'taken straight from Liddell and Scott's classical Greek-English lexicon complete with examples of its use in medicine by Hippocrates and Dioscorides (the physician, not the poet).' He stated, furthermore, that for this reason it should be pronounced with 2 'p's. He pointed out that Kerr et al. (1972), in introducing the term into modern science, suggested silencing the second p. Silencing the p seems so well established in words of similar derivation, such as 'ptosis' and 'pneumonia,' that silencing of the second p would seem appropriate in modern speech. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>21 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, 1-BP DEL, 429G
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231361,
|
|
|
|
|
|
gnomAD: rs606231361,
|
|
|
|
|
|
ClinVar: RCV000017961
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), Fisher et al. (1995) identified a heterozygous 1-bp deletion (429delG) in exon 3 of the FAS gene, resulting in a frameshift and premature termination. The authors predicted reduced surface expression of the Fas antigen and a loss of function. As the patient's unaffected mother was also heterozygous for the same mutation, the authors suggested that additional modifier genes may be involved in the development of the phenotype. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, EX3DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231362,
|
|
|
|
|
|
|
|
ClinVar: RCV000017962, RCV003517125
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), Fisher et al. (1995) found in-frame deletion of exon 3 of the FAS gene, resulting from a 1-bp insertion in the 5-prime splice site of intron 3 and leading to a change in the extracellular domain of the protein. Although the patient's mother, who was heterozygous for the same mutation, had no clinical abnormalities, in vitro analysis showed impaired T-lymphocyte apoptosis. Fisher et al. (1995) concluded that the exon 3 deletion had a dominant interfering effect, but also noted that genetic modifiers must be involved. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, THR225PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913076,
|
|
|
|
|
|
|
|
ClinVar: RCV000017963
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), Fisher et al. (1995) identified a heterozygous 915A-C transversion in the FAS gene, resulting in a thr225-to-pro (T225P) substitution in the death domain of the protein. The father had died of Hodgkin disease, but the paternal uncle, who also had Hodgkin disease, was heterozygous for the T225P mutation, indicating that the patient's father was the source of the mutation. The mutation resulted in a dominant interfering effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, IVS7AS, A-C, -2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231363,
|
|
|
|
|
|
|
|
ClinVar: RCV000017964
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), Fisher et al. (1995) identified an A-to-C change at the 3-prime splice site of intron 6 of the FAS gene, resulting in aberrant splicing and truncation at the intracellular side of the membrane-spanning domain. The asymptomatic mother was heterozygous for the same mutation, but appeared to be a mosaic. In vitro studies showed that the mother had defective T-lymphocyte apoptosis. The authors concluded that the mutation had a dominant interfering effect. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, GLN257TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913077,
|
|
|
|
|
|
|
|
ClinVar: RCV000017965, RCV001071386
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), Fisher et al. (1995) identified a heterozygous 1011C-T transition in the FAS gene, resulting in a gln257-to-ter (Q257X) substitution in the death domain of the protein. The patient's asymptomatic mother had the same heterozygous mutation, suggesting that other genetic modifiers were involved in phenotypic expression. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, ARG105TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913078,
|
|
|
|
|
|
gnomAD: rs121913078,
|
|
|
|
|
|
ClinVar: RCV000017966, RCV005089268
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Bettinardi et al. (1997) described a family in which 3 sibs affected with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859) were compound heterozygous for 2 mutations in the FAS gene: a 555C-T transition, resulting in an arg105-to-trp (R105W) substitution, was inherited from the mother, and an 889A-G transition, resulting in a tyr216-to-cys (Y216C; 134637.0007) substitution, was inherited from the father. The children shared common features, including splenomegaly and lymphadenopathy, but only 1 developed severe autoimmune hemolytic anemia and thrombocytopenia. Another child developed hypergammaglobulinemia, with increased IgG and IgA serum levels. No clinical or immunologic defect and no evidence of defective FAS function was identified in the heterozygous parents. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, TYR216CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913079,
|
|
|
|
|
|
|
|
ClinVar: RCV000017967, RCV000814654
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the tyr216-to-cys (Y216C) mutation in the FAS gene that was found in compound heterozygous state in sibs with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859) by Bettinardi et al. (1997), see 134637.0006. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, ASP244VAL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28929498,
|
|
|
|
|
|
|
|
ClinVar: RCV000017968, RCV002513090
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859) containing 11 affected individuals in 4 generations, Infante et al. (1998) identified a heterozygous 973A-T transversion in the FAS cDNA, resulting in a nonconservative asp244-to-val (D244V) substitution in the intracellular domain of the protein. Although 1 affected individual died of postsplenectomy sepsis and 1 had been treated for lymphoma, the FAS mutation in this family was compatible with a healthy adulthood, as clinical features of ALPS receded with increasing age. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, ARG234PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913080,
|
|
|
|
|
|
|
|
ClinVar: RCV000017969, RCV000638906, RCV001701481
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with an autosomal dominant form of autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), Vaishnaw et al. (1999) identified a heterozygous G-to-C transversion in the FAS gene, resulting in an arg234-to-pro (R234P) substitution in the intracellular domain of the protein. The family was originally reported by Rao et al. (1974). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, THR254ILE
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913081,
|
|
|
|
|
|
|
|
ClinVar: RCV000017970, RCV001851899
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with autosomal dominant autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), Vaishnaw et al. (1999) identified a heterozygous C-to-T transition in the FAS gene, resulting in a thr254-to-ile (T254I) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, IVS7DS, T-A, +2
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267607122,
|
|
|
|
|
|
|
|
ClinVar: RCV000017971
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a family with autosomal dominant autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), Vaishnaw et al. (1999) identified a heterozygous splice site mutation in the FAS gene, resulting in a frameshift and premature termination at position 209 (ser209-to-ter; S209X). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, A-T, -1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231364,
|
|
|
|
|
|
|
|
ClinVar: RCV000017972
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Jackson et al. (1999) found a -1A-T variant at the FAS signal sequence cleavage site in 13% of African American TNFRSF6 alleles. The variant mediated apoptosis less well than wildtype FAS and was partially inhibitory. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, AUTOSOMAL RECESSIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, EX9, 20-BP DUP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231365,
|
|
|
|
|
|
|
|
ClinVar: RCV000017973
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a child with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), who was born of consanguineous parents, van der Burg et al. (2000) identified a homozygous 20-nucleotide duplication in the last exon of the FAS gene, affecting the cytoplasmic signaling domain. The patient's unaffected parents and sibs were heterozygous for the mutation. The findings indicated that this phenotype was the human homolog of the FAS-null mouse, since the patient carried a homozygous mutation in the FAS gene and showed a severe and accelerated ALPS phenotype. Van der Burg et al. (2000) noted that Rieux-Laucat et al. (1995) had reported a severe case of ALPS with a homozygous FAS deletion, and that Bettinardi et al. (1997) had reported 3 sibs who were compound heterozygous for 2 FAS mutations (see 134637.0006 and 134637.0007). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, ASN239ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913082,
|
|
|
|
|
|
|
|
ClinVar: RCV000017974
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a burn scar-related squamous cell carcinoma, Lee et al. (1999) identified a 957A-G transition in the TNFRSF6 gene, resulting in an asn239-to-asp (N239D) substitution in the FAS death domain.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, ASN102SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913083,
|
|
|
|
|
|
|
|
ClinVar: RCV000017975
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a burn scar-related squamous cell carcinoma, Lee et al. (1999) identified a 547A-G transition in the TNFRSF6 gene, resulting in an asn102-to-ser (N102S) substitution in the FAS ligand-binding domain.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0016 SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, CYS162ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913084,
|
|
|
|
|
|
|
|
ClinVar: RCV000017976
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a burn scar-related squamous cell carcinoma, Lee et al. (1999) identified a 726T-to-C transition in the TNFRSF6 gene, resulting in a cys162-to-arg (C162R) substitution in the FAS transmembrane domain.</p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0017 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, GLY231ALA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913085,
|
|
|
|
|
|
|
|
ClinVar: RCV000017977
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), Martin et al. (1999) identified a heterozygous 934G-C transversion in the TNFRSF6 gene, resulting in a gly231-to-ala (G231A) substitution. (The authors originally referred to the nucleotide transversion as 943G-C and the substitution as ARG234PRO, which they later corrected in an erratum.) </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0018 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, PRO201FS, 204TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs267607122,
|
|
|
|
|
|
|
|
ClinVar: RCV000017978, RCV001382233
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 of 6 patients with heterozygous mosaic cases of autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859), Holzelova et al. (2004) identified a frameshift mutation in exon 8 of the FAS gene, resulting in a premature stop at codon 204. Clinical manifestations in the 3 mosaic cases were highly variable. The same mutation had been described as a germline mutation in a patient with ALPS1A by Rieux-Laucat et al. (1999). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0019 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, 1-BP INS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231366,
|
|
|
|
|
|
|
|
ClinVar: RCV000017979
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859) reported by Canale and Smith (1967), Drappa et al. (1996) identified a heterozygous 1-bp insertion within the death domain of the FAS gene, resulting in a lys230to-ter (K230X) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0020 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, ASP244TYR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913086,
|
|
|
|
|
|
|
|
ClinVar: RCV000017980
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with autoimmune lymphoproliferative syndrome type IA (ALPS1A; 601859) reported by Canale and Smith (1967), and in his affected son, Drappa et al. (1996) identified a heterozygous 972G-T transversion within the death domain of the FAS gene, resulting in an asp244-to-tyr (D244Y) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0021 LUNG CANCER, SUSCEPTIBILITY TO</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
FAS, -1377G-A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2234767,
|
|
|
|
|
|
gnomAD: rs2234767,
|
|
|
|
|
|
ClinVar: RCV000017981, RCV003488343
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Zhang et al. (2005) genotyped 1,000 Han Chinese lung cancer (211980) patients and 1,270 controls for 2 functional polymorphisms in the promoter regions of the FAS and FASL genes, -1377G-A and -844T-C (134638.0002), respectively. Compared to noncarriers, there was a 1.6-fold increased risk of developing lung cancer for carriers of the FAS -1377AA genotype and a 1.8-fold increased risk for carriers of the FASL -844CC genotype. Carriers of both homozygous genotypes had a more than 4-fold increased risk, indicative of multiplicative gene-gene interaction. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Arscott, P. L., Stokes, T., Myc, A., Giordano, T. J., Thompson, N. W., Baker, J. R., Jr.
|
|
<strong>Fas (CD95) expression is up-regulated on papillary thyroid carcinoma.</strong>
|
|
J. Clin. Endocr. Metab. 84: 4246-4252, 1999.
|
|
|
|
|
|
[PubMed: 10566680]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.84.11.6139]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aspinall, A. I., Pinto, A., Auer, I. A., Bridges, P., Luider, J., Dimnik, L., Patel, K. D., Jorgenson, K., Woodman, R. C.
|
|
<strong>Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.</strong>
|
|
Blood Cells Molec. Dis. 25: 227-238, 1999.
|
|
|
|
|
|
[PubMed: 10575548]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/bcmd.1999.0248]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Beautyman, W.
|
|
<strong>Apoptosis again. (Letter)</strong>
|
|
Nature 376: 380 only, 1995.
|
|
|
|
|
|
[PubMed: 7630409]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/376380c0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bettinardi, A., Brugnoni, D., Quiros-Roldan, E., Malagoli, A., La Grutta, S., Correra, A., Notarangelo, L. D.
|
|
<strong>Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.</strong>
|
|
Blood 89: 902-909, 1997.
|
|
|
|
|
|
[PubMed: 9028321]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brunner, T., Mogil, R. J., LaFace, D., Yoo, N. J., Mahboubi, A., Echeverri, F., Martin, S. J., Force, W. R., Lynch, D. H., Ware, C. F., Green, D. R.
|
|
<strong>Cell-autonomous Fas (CD95)/Fas-ligand interaction mediates activation-induced apoptosis in T-cell hybridomas.</strong>
|
|
Nature 373: 441-444, 1995.
|
|
|
|
|
|
[PubMed: 7530336]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/373441a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Canale, V. C., Smith, C. H.
|
|
<strong>Chronic lymphadenopathy simulating malignant lymphoma.</strong>
|
|
J. Pediat. 70: 891-899, 1967.
|
|
|
|
|
|
[PubMed: 4165068]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(67)80262-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chen, L., Park, S.-M., Tumanov, A. V., Hau, A., Sawada, K., Feig, C., Turner, J. R., Fu, Y.-X., Romero, I. L., Lengyel, E., Peter, M. E.
|
|
<strong>CD95 promotes tumour growth.</strong>
|
|
Nature 465: 492-496, 2010. Note: Erratum: Nature 471: 254 only, 2011. Erratum: Nature 475: 254 only, 2011. Erratum: Nature 491: 784 only, 2012.
|
|
|
|
|
|
[PubMed: 20505730]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature09075]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clementi, R., Dagna, L., Dianzani, U., Dupre, L., Dianzani, I., Ponzoni, M., Cometa, A., Chiocchetti, A., Sabbadini, M. G., Rugarli, C., Ciceri, F., Maccario, R., Locatelli, F., Danesino, C., Ferrarini, M., Bregni, M.
|
|
<strong>Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.</strong>
|
|
New Eng. J. Med. 351: 1419-1424, 2004.
|
|
|
|
|
|
[PubMed: 15459303]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa041432]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Desbarats, J., Birge, R. B., Mimouni-Rongy, M., Weinstein, D. E., Palerme, J.-S., Newell, M. K.
|
|
<strong>Fas engagement induces neurite growth through ERK activation and p35 upregulation.</strong>
|
|
Nature Cell Biol. 5: 118-125, 2003.
|
|
|
|
|
|
[PubMed: 12545171]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ncb916]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dhein, J., Walczak, H., Baumler, C., Debatin, K.-M., Krammer, P. H.
|
|
<strong>Autocrine T-cell suicide mediated by APO-1/(Fas/CD95).</strong>
|
|
Nature 373: 438-441, 1995.
|
|
|
|
|
|
[PubMed: 7530335]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/373438a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dowdell, K. C., Niemela, J. E., Price, S., Davis, J., Hornung, R. L., Oliveira, J. B., Puck, J. M., Jaffe, E. S., Pittaluga, S., Cohen, J. I., Fleisher, T. A., Rao, V. K.
|
|
<strong>Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.</strong>
|
|
Blood 115: 5164-5169, 2010.
|
|
|
|
|
|
[PubMed: 20360470]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1182/blood-2010-01-263145]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Drappa, J., Vaishnaw, A. K., Sullivan, K. E., Chu, J.-L., Elkon, K. B.
|
|
<strong>Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.</strong>
|
|
New Eng. J. Med. 335: 1643-1649, 1996.
|
|
|
|
|
|
[PubMed: 8929361]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM199611283352204]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Feuk, L., Prince, J. A., Blennow, K., Brookes, A. J.
|
|
<strong>Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease.</strong>
|
|
Hum. Mutat. 21: 53-60, 2003.
|
|
|
|
|
|
[PubMed: 12497631]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.10148]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Feuk, L., Prince, J. A., Breen, G., Emahazion, T., Carothers, A., St Clair, D., Brookes, A. J.
|
|
<strong>Apolipoprotein-E dependent role for the FAS receptor in early onset Alzheimer's disease: finding of a positive association for a polymorphism in the TNFRSF6 gene.</strong>
|
|
Hum. Genet. 107: 391-396, 2000.
|
|
|
|
|
|
[PubMed: 11129341]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s004390000383]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fisher, G. H., Rosenberg, F. J., Straus, S. E., Dale, J. K., Middelton, L. A., Lin, A. Y., Strober, W., Lenardo, M. J., Puck, J. M.
|
|
<strong>Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.</strong>
|
|
Cell 81: 935-946, 1995.
|
|
|
|
|
|
[PubMed: 7540117]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(95)90013-6]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Frizzera, G., Kaneko, Y., Sakurai, M.
|
|
<strong>Angioimmunoblastic lymphadenopathy and related disorders: a retrospective look in search of definitions.</strong>
|
|
Leukemia 3: 1-5, 1989.
|
|
|
|
|
|
[PubMed: 2642571]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Grassme, H., Kirschnek, S., Riethmueller, J., Riehle, A., von Kurthy, G., Lang, F., Weller, M., Gulbins, E.
|
|
<strong>CD95/CD95 ligand interactions on epithelial cells in host defense to Pseudomonas aeruginosa.</strong>
|
|
Science 290: 527-530, 2000.
|
|
|
|
|
|
[PubMed: 11039936]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.290.5491.527]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Holzelova, E., Vonarbourg, C., Stolzenberg, M.-C., Arkwright, P. D., Selz, F., Prieur, A.-M., Blanche, S., Bartunkova, J., Vilmer, E., Fischer, A., Le Deist, F., Rieux-Laucat, F.
|
|
<strong>Autoimmune lymphoproliferative syndrome with somatic Fas mutations.</strong>
|
|
New Eng. J. Med. 351: 1409-1418, 2004.
|
|
|
|
|
|
[PubMed: 15459302]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMoa040036]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hueber, A.-O.
|
|
<strong>CD95: more than just a death factor?</strong>
|
|
Nature Cell Biol. 2: E23-E25, 2000. Note: Erratum: Nature Cell Biol. 2: E50, 2000.
|
|
|
|
|
|
[PubMed: 10655597]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/35000092]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hueber, A.-O., Zornig, M., Lyon, D., Suda, T., Nagata, S., Evan, G. I.
|
|
<strong>Requirement for the CD95 receptor-ligand pathway in c-Myc-induced apoptosis.</strong>
|
|
Science 278: 1305-1309, 1997.
|
|
|
|
|
|
[PubMed: 9360929]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.278.5341.1305]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hutcheson, J., Scatizzi, J. C., Siddiqui, A. M., Haines, G. K., III, Wu, T., Li, Q.-Z., Davis, L. S., Mohan, C., Perlman, H.
|
|
<strong>Combined deficiency of proapoptotic regulators Bim and Fas results in the early onset of systemic autoimmunity.</strong>
|
|
Immunity 28: 206-217, 2008.
|
|
|
|
|
|
[PubMed: 18275831]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.immuni.2007.12.015]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Inazawa, J., Itoh, N., Abe, T., Nagata, S.
|
|
<strong>Assignment of the human Fas antigen gene (FAS) to 10q24.1.</strong>
|
|
Genomics 14: 821-822, 1992.
|
|
|
|
|
|
[PubMed: 1385309]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0888-7543(05)80200-9]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Infante, A. J., Britton, H. A., DeNapoli, T., Middleton, L. A., Lenardo, M. J., Jackson, C. E., Wang, J., Fleisher, T., Straus, S. E., Puck, J. M.
|
|
<strong>The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.</strong>
|
|
J. Pediat. 133: 629-633, 1998.
|
|
|
|
|
|
[PubMed: 9821419]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(98)70102-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Itoh, N., Yonehara, S., Ishii, A., Yonehara, M., Mizushima, S.-I., Sameshima, M., Hase, A., Seto, Y., Nagata, S.
|
|
<strong>The polypeptide encoded by the cDNA for human cell surface antigen Fas can mediate apoptosis.</strong>
|
|
Cell 66: 233-243, 1991.
|
|
|
|
|
|
[PubMed: 1713127]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(91)90614-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jackson, C. E., Fischer, R. E., Hsu, A. P., Anderson, S. M., Choi, Y., Wang, J., Dale, J. K., Fleisher, T. A., Middelton, L. A., Sneller, M. C., Lenardo, M. J., Straus, S. E., Puck, J. M.
|
|
<strong>Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.</strong>
|
|
Am. J. Hum. Genet. 64: 1002-1014, 1999.
|
|
|
|
|
|
[PubMed: 10090885]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/302333]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jost, P. J., Grabow, S., Gray, D., McKenzie, M. D., Nachbur, U., Huang, D. C. S., Bouillet, P., Thomas, H. E., Borner, C., Silke, J., Strasser, A., Kaufmann, T.
|
|
<strong>XIAP discriminates between type I and type II FAS-induced apoptosis.</strong>
|
|
Nature 460: 1035-1039, 2009.
|
|
|
|
|
|
[PubMed: 19626005]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature08229]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ju, S.-T., Panka, D. J., Cui, H., Ettinger, R., El-Khatib, M., Sherr, D. H., Stanger, B. Z., Marshak-Rothstein, A.
|
|
<strong>Fas(CD95)/FasL interactions required for programmed cell death after T-cell activation.</strong>
|
|
Nature 373: 444-448, 1995.
|
|
|
|
|
|
[PubMed: 7530337]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/373444a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kerr, J. F. R., Wyllie, A. H., Currie, A. R.
|
|
<strong>Apoptosis: a basic biological phenomenon with wide-ranging implications in tissue kinetics.</strong>
|
|
Brit. J. Cancer 26: 239-257, 1972.
|
|
|
|
|
|
[PubMed: 4561027]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/bjc.1972.33]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Landau, A. M., Luk, K. C., Jones, M.-L., Siegrist-Johnstone, R., Young, Y. K., Kouassi, E., Rymar, V. V., Dagher, A., Sadikot, A. F., Desbarats, J.
|
|
<strong>Defective Fas expression exacerbates neurotoxicity in a model of Parkinson's disease.</strong>
|
|
J. Exp. Med. 202: 575-581, 2005.
|
|
|
|
|
|
[PubMed: 16129703]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1084/jem.20050163]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, S. H., Shin, M. S., Kim, H. S., Park, W. S., Kim, S. Y., Jang, J. J., Rhim, K. J., Jang, J., Lee, H. K., Park, J. Y., Oh, R. R., Han, S. Y., Lee, J. H., Lee, J. Y., Yoo, N. J.
|
|
<strong>Somatic mutations of Fas (Apo-1/CD95) gene in cutaneous squamous cell carcinoma arising from a burn scar.</strong>
|
|
J. Invest. Derm. 114: 122-126, 1999.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lepple-Wienhues, A., Belka, C., Laun, T., Jekle, A., Walter, B., Wieland, U., Welz, M., Heil, L., Kun, J., Busch, G., Weller, M., Bamberg, M., Gulbins, E., Lang, F.
|
|
<strong>Stimulation of CD95 (Fas) blocks T lymphocyte calcium channels through sphingomyelinase and sphingolipids.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 13795-13800, 1999.
|
|
|
|
|
|
[PubMed: 10570152]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.96.24.13795]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lichter, P., Walczak, H., Weitz, S., Behrmann, I., Krammer, P. H.
|
|
<strong>The human APO-1 (APT) antigen maps to 10q23, a region that is syntenic with mouse chromosome 19.</strong>
|
|
Genomics 14: 179-180, 1992.
|
|
|
|
|
|
[PubMed: 1385299]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0888-7543(05)80302-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ma, Y., Liu, H., Tu-Rapp, H., Thiesen, H.-J., Ibrahim, S. M., Cole, S. M., Pope, R. M.
|
|
<strong>Fas ligation on macrophages enhances IL-1R1-Toll-like receptor 4 signaling and promotes chronic inflammation.</strong>
|
|
Nature Immun. 5: 380-387, 2004.
|
|
|
|
|
|
[PubMed: 15004557]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ni1054]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mannick, J. B., Hausladen, A., Liu, L., Hess, D. T., Zeng, M., Miao, Q. X., Kane, L. S., Gow, A. J., Stamler, J. S.
|
|
<strong>Fas-induced caspase denitrosylation.</strong>
|
|
Science 284: 651-654, 1999.
|
|
|
|
|
|
[PubMed: 10213689]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.284.5414.651]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Martin, D. A., Zheng, L., Siegel, R. M., Huang, B., Fisher, G. H., Wang, J., Jackson, C. E., Puck, J. M., Dale, J., Straus, S. E., Peter, M. E., Krammer, P. H., Fesik, S., Lenardo, M. J.
|
|
<strong>Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 4552-4557, 1999. Note: Erratum: Proc. Nat. Acad. Sci. 101: 7840 only, 2004.
|
|
|
|
|
|
[PubMed: 10200300]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.96.8.4552]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mountz, J. D., Talal, N.
|
|
<strong>Retroviruses, apoptosis and autogenes.</strong>
|
|
Immun. Today 14: 532-536, 1993.
|
|
|
|
|
|
[PubMed: 8274195]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0167-5699(93)90182-K]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Oehm, A., Behrmann, I., Falk, W., Pawlita, M., Maier, G., Klas, C., Li-Weber, M., Richards, S., Dhein, J., Trauth, B. C., Ponstingl, H., Krammer, P. H.
|
|
<strong>Purification and molecular cloning of the APO-1 cell surface antigen, a member of the tumor necrosis factor/nerve growth factor receptor superfamily: sequence identity with the FAS antigen.</strong>
|
|
J. Biol. Chem. 267: 10709-10715, 1992.
|
|
|
|
|
|
[PubMed: 1375228]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pestano, G. A., Zhou, Y., Trimble, L. A., Daley, J., Weber, G. F., Cantor, H.
|
|
<strong>Inactivation of misselected CD8 T cells by CD8 gene methylation and cell death.</strong>
|
|
Science 284: 1187-1191, 1999.
|
|
|
|
|
|
[PubMed: 10325233]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.284.5417.1187]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rao, L. M., Shahidi, N. T., Opitz, J. M.
|
|
<strong>Hereditary splenomegaly with hypersplenism.</strong>
|
|
Clin. Genet. 5: 379-386, 1974.
|
|
|
|
|
|
[PubMed: 4852259]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb01710.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Raoul, C., Buhler, E., Sadeghi, C., Jacquier, A., Aebischer, P., Pettmann, B., Henderson, C. E., Haase, G.
|
|
<strong>Chronic activation in presymptomatic amyotrophic lateral sclerosis (ALS) mice of a feedback loop involving Fas, Daxx, and FasL.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 6007-6012, 2006.
|
|
|
|
|
|
[PubMed: 16581901]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0508774103]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Raoul, C., Estevez, A. G., Nishimune, H., Cleveland, D. W., deLapeyriere, O., Henderson, C. E., Hasse, G., Pettmann, B.
|
|
<strong>Motoneuron death triggered by a specific pathway downstream of Fas: potentiation by ALS-linked SOD1 mutations.</strong>
|
|
Neuron 35: 1067-1083, 2002.
|
|
|
|
|
|
[PubMed: 12354397]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0896-6273(02)00905-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rieux-Laucat, F., Blachere, S., Danielan, S., De Villartay, J. P., Oleastro, M., Solary, E., Bader-Meunier, B., Arkwright, P., Pondare, C., Bernaudin, F., Chapel, H., Nielsen, S., Berrah, M., Fischer, A., Le Deist, F.
|
|
<strong>Lymphoproliferative syndrome with autoimmunity: a possible genetic basis for dominant expression of the clinical manifestations.</strong>
|
|
Blood 94: 2575-2582, 1999.
|
|
|
|
|
|
[PubMed: 10515860]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rieux-Laucat, F., Le Deist, F., Hivroz, C., Roberts, I. A. G., Debatin, K. M., Fischer, A., de Villartay, J. P.
|
|
<strong>Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.</strong>
|
|
Science 268: 1347-1349, 1995.
|
|
|
|
|
|
[PubMed: 7539157]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.7539157]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Savinov, A. Y., Tcherepanov, A., Green, E. A., Flavell, R. A., Chervonsky, A. V.
|
|
<strong>Contribution of Fas to diabetes development.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 628-632, 2003.
|
|
|
|
|
|
[PubMed: 12525697]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.0237359100]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scott, F. L., Stec, B., Pop, C., Dobaczewska, M. K., Lee, J. J., Monosov, E., Robinson, H., Salvesen, G. S., Schwarzenbacher, R., Riedl, S. J.
|
|
<strong>The Fas-FADD death domain complex structure unravels signalling by receptor clustering.</strong>
|
|
Nature 457: 1019-1022, 2009.
|
|
|
|
|
|
[PubMed: 19118384]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature07606]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Siegel, R. M., Frederiksen, J. K., Zacharias, D. A., Chan, F. K.-M., Johnson, M., Lynch, D., Tsien, R. Y., Lenardo, M. J.
|
|
<strong>Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.</strong>
|
|
Science 288: 2354-2357, 2000.
|
|
|
|
|
|
[PubMed: 10875918]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.288.5475.2354]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sneller, M. C., Straus, S. E., Jaffe, E. S., Jaffe, J. S., Fleisher, T. A., Stetler-Stevenson, M., Strober, W.
|
|
<strong>A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease.</strong>
|
|
J. Clin. Invest. 90: 334-341, 1992.
|
|
|
|
|
|
[PubMed: 1386609]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI115867]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Song, E., Lee, S.-K., Wang, J., Ince, N., Ouyang, N., Min, J., Chen, J., Shankar, P., Lieberman, J.
|
|
<strong>RNA interference targeting Fas protects mice from fulminant hepatitis.</strong>
|
|
Nature Med. 9: 347-351, 2003.
|
|
|
|
|
|
[PubMed: 12579197]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nm828]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Talal, N.
|
|
<strong>Oncogenes, autogenes, and rheumatic diseases.(Editorial)</strong>
|
|
Arthritis Rheum. 37: 1421-1422, 1994.
|
|
|
|
|
|
[PubMed: 7945465]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/art.1780371003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vaishnaw, A. K., Orlinick, J. R., Chu, J.-L., Krammer, P. H., Chao, M. V., Elkton, K. B.
|
|
<strong>The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.</strong>
|
|
J. Clin. Invest. 103: 355-363, 1999. Note: Erratum: J. Clin. Invest. 103: 1099 only, 1999.
|
|
|
|
|
|
[PubMed: 9927496]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1172/JCI5121]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
van der Burg, M., de Groot, R., Comans-Bitter, W. M., den Hollander, J. C., Hooijkaas, H., Neijens, H. J., Berger, R. M. F., Oranje, A. P., Langerak, A. W., van Dongen, J. J. M.
|
|
<strong>Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?</strong>
|
|
Pediat. Res. 47: 336-343, 2000.
|
|
|
|
|
|
[PubMed: 10709732]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1203/00006450-200003000-00009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Viard, I., Wehrli, P., Bullani, R., Schneider, P., Holler, N., Salomon, D., Hunziker, T., Saurat, J.-H., Tschopp, J., French, L. E.
|
|
<strong>Inhibition of toxic epidermal necrolysis by blockade of CD95 with human intravenous immunoglobulin.</strong>
|
|
Science 282: 490-493, 1998.
|
|
|
|
|
|
[PubMed: 9774279]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.282.5388.490]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Volpert, O. V., Zaichuk, T., Zhou, W., Reiher, F., Ferguson, T. A., Stuart, P. M., Amin, M., Bouck, N. P.
|
|
<strong>Inducer-stimulated Fas targets activated endothelium for destruction by anti-angiogenic thrombospondin-1 and pigment epithelium-derived factor.</strong>
|
|
Nature Med. 8: 349-357, 2002.
|
|
|
|
|
|
[PubMed: 11927940]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nm0402-349]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Watanabe-Fukunaga, R., Brannan, C. I., Copeland, N. G., Jenkins, N. A., Nagata, S.
|
|
<strong>Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis.</strong>
|
|
Nature 356: 314-317, 1992.
|
|
|
|
|
|
[PubMed: 1372394]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/356314a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Watanabe-Fukunaga, R., Brannan, C. I., Itoh, N., Yonehara, S., Copeland, N. G., Jenkins, N. A., Nagata, S.
|
|
<strong>The cDNA structure, expression, and chromosomal assignment of the mouse Fas antigen.</strong>
|
|
J. Immun. 148: 1274-1279, 1992.
|
|
|
|
|
|
[PubMed: 1371136]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weant, A. E., Michalek, R. D., Khan, I. U., Holbrook, B. C., Willingham, M. C., Grayson, J. M.
|
|
<strong>Apoptosis regulators Bim and Fas function concurrently to control autoimmunity and CD8+ T cell contraction.</strong>
|
|
Immunity 28: 218-230, 2008.
|
|
|
|
|
|
[PubMed: 18275832]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.immuni.2007.12.014]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wu, J., Zhou, T., He, J., Mountz, J. D.
|
|
<strong>Autoimmune disease in mice due to integration of an endogenous retrovirus in an apoptosis gene.</strong>
|
|
J. Exp. Med. 178: 461-468, 1993.
|
|
|
|
|
|
[PubMed: 7688023]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1084/jem.178.2.461]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yan, M.-D., Hong, C.-C., Lai, G.-M., Cheng, A.-L., Lin, Y.-W., Chuang, S.-E.
|
|
<strong>Identification and characterization of a novel gene Saf transcribed from the opposite strand of Fas.</strong>
|
|
Hum. Molec. Genet. 14: 1465-1474, 2005.
|
|
|
|
|
|
[PubMed: 15829500]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddi156]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zhang, X., Miao, X., Sun, T., Tan, W., Qu, S., Xiong, P., Zhou, Y., Lin, D.
|
|
<strong>Functional polymorphisms in cell death pathway genes FAS and FASL contribute to the risk of lung cancer.</strong>
|
|
J. Med. Genet. 42: 479-484, 2005.
|
|
|
|
|
|
[PubMed: 15937082]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.2004.030106]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Zou, C., Ma, J., Wang, X., Guo, L., Zhu, Z., Stoops, J., Eaker, A. E., Johnson, C. J., Strom, S., Michalopoulos, G. K., DeFrances, M. C., Zarnegar, R.
|
|
<strong>Lack of Fas antagonism by Met in human fatty liver disease.</strong>
|
|
Nature Med. 13: 1078-1085, 2007.
|
|
|
|
|
|
[PubMed: 17704785]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nm1625]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Paul J. Converse - updated : 8/9/2012<br>Paul J. Converse - updated : 8/3/2012<br>Cassandra L. Kniffin - updated : 5/10/2011<br>Ada Hamosh - updated : 6/30/2010<br>Ada Hamosh - updated : 9/15/2009<br>Ada Hamosh - updated : 3/10/2009<br>George E. Tiller - updated : 6/5/2008<br>Ada Hamosh - updated : 3/27/2008<br>Cassandra L. Kniffin - updated : 6/2/2006<br>Paul J. Converse - updated : 4/3/2006<br>Marla J. F. O'Neill - updated : 7/21/2005<br>Cassandra L. Kniffin - reorganized : 11/17/2004<br>Victor A. McKusick - updated : 10/22/2004<br>Victor A. McKusick - updated : 7/2/2004<br>Paul J. Converse - updated : 4/19/2004<br>Cassandra L. Kniffin - updated : 6/6/2003<br>Patricia A. Hartz - updated : 4/28/2003<br>Ada Hamosh - updated : 2/27/2003<br>Victor A. McKusick - updated : 2/12/2003<br>Victor A. McKusick - updated : 1/15/2003<br>Ada Hamosh - updated : 4/9/2002<br>Ada Hamosh - updated : 10/30/2000<br>John A. Phillips, III - updated : 10/2/2000<br>Ada Hamosh - updated : 6/29/2000<br>Gary A. Bellus - updated : 6/13/2000<br>Victor A. McKusick - updated : 5/1/2000<br>Paul J. Converse - updated : 4/20/2000<br>Victor A. McKusick - updated : 1/19/2000<br>Ada Hamosh - updated : 5/13/1999<br>Ada Hamosh - updated : 5/10/1999<br>Victor A. McKusick - updated : 5/4/1999<br>Victor A. McKusick - updated : 4/9/1999<br>Victor A. McKusick - updated : 4/2/1999<br>Victor A. McKusick - updated : 3/16/1999<br>Victor A. McKusick - updated : 1/25/1999<br>Ada Hamosh - updated : 10/15/1998<br>Victor A. McKusick - updated : 11/13/1997<br>Victor A. McKusick - updated : 4/4/1997<br>Victor A. McKusick - updated : 3/4/1997
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 5/28/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 05/15/2015<br>mcolton : 5/12/2015<br>alopez : 12/4/2014<br>carol : 12/1/2014<br>carol : 4/11/2013<br>carol : 12/10/2012<br>mgross : 9/4/2012<br>terry : 8/9/2012<br>mgross : 8/6/2012<br>mgross : 8/6/2012<br>terry : 8/3/2012<br>carol : 5/23/2012<br>terry : 1/17/2012<br>alopez : 8/25/2011<br>alopez : 6/17/2011<br>wwang : 5/23/2011<br>ckniffin : 5/10/2011<br>alopez : 7/1/2010<br>terry : 6/30/2010<br>alopez : 9/15/2009<br>terry : 9/15/2009<br>alopez : 3/12/2009<br>terry : 3/10/2009<br>wwang : 6/18/2008<br>terry : 6/5/2008<br>alopez : 3/27/2008<br>wwang : 6/2/2006<br>mgross : 4/5/2006<br>terry : 4/3/2006<br>carol : 10/3/2005<br>carol : 9/30/2005<br>wwang : 7/25/2005<br>terry : 7/21/2005<br>carol : 11/17/2004<br>ckniffin : 11/3/2004<br>terry : 10/22/2004<br>tkritzer : 7/7/2004<br>terry : 7/2/2004<br>mgross : 4/19/2004<br>alopez : 4/13/2004<br>carol : 6/12/2003<br>ckniffin : 6/6/2003<br>tkritzer : 5/7/2003<br>cwells : 5/1/2003<br>terry : 4/28/2003<br>alopez : 3/4/2003<br>terry : 2/27/2003<br>mgross : 2/21/2003<br>terry : 2/12/2003<br>cwells : 1/15/2003<br>terry : 1/15/2003<br>terry : 4/22/2002<br>cwells : 4/17/2002<br>cwells : 4/15/2002<br>terry : 4/9/2002<br>mcapotos : 10/4/2001<br>mgross : 10/30/2000<br>mgross : 10/11/2000<br>terry : 10/2/2000<br>carol : 6/29/2000<br>alopez : 6/13/2000<br>mcapotos : 5/26/2000<br>mcapotos : 5/25/2000<br>terry : 5/1/2000<br>carol : 4/20/2000<br>carol : 4/20/2000<br>terry : 1/19/2000<br>carol : 10/26/1999<br>alopez : 5/13/1999<br>terry : 5/13/1999<br>alopez : 5/10/1999<br>mgross : 5/10/1999<br>mgross : 5/10/1999<br>mgross : 5/7/1999<br>terry : 5/4/1999<br>carol : 4/12/1999<br>terry : 4/9/1999<br>carol : 4/2/1999<br>carol : 3/17/1999<br>terry : 3/16/1999<br>mgross : 2/8/1999<br>terry : 1/25/1999<br>alopez : 12/18/1998<br>alopez : 12/18/1998<br>alopez : 10/15/1998<br>dkim : 9/11/1998<br>terry : 5/29/1998<br>terry : 11/13/1997<br>terry : 11/12/1997<br>mark : 7/22/1997<br>mark : 7/22/1997<br>alopez : 7/21/1997<br>mark : 6/11/1997<br>jenny : 4/4/1997<br>terry : 4/1/1997<br>mark : 3/4/1997<br>jamie : 3/4/1997<br>terry : 3/3/1997<br>mark : 6/25/1996<br>mark : 10/18/1995<br>carol : 3/7/1995<br>carol : 4/6/1993<br>carol : 11/5/1992<br>carol : 10/13/1992<br>carol : 10/7/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 5, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|