3026 lines
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Entry
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- *607672 - CARDIOTROPHIN-LIKE CYTOKINE FACTOR 1; CLCF1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*607672</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607672">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<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">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000175505;t=ENST00000312438" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=23529" 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>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=607672" 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>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000175505;t=ENST00000312438" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001166212,NM_013246" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_013246" 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>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=607672" 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>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=09643&isoform_id=09643_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>
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<div><a href="https://www.proteinatlas.org/search/CLCF1" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/5852981,6007641,6007643,7019351,15277895,16356643,42542560,42542562,42542661,56404673,119595007,119595008,194388756,218595098,261245022" 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>
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<div><a href="https://www.uniprot.org/uniprotkb/Q9UBD9" 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>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=23529" 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>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000175505;t=ENST00000312438" 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>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=CLCF1" 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>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=CLCF1" 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>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+23529" 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>
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<dd><a href="http://v1.marrvel.org/search/gene/CLCF1" 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>
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<dd><a href="https://monarchinitiative.org/NCBIGene:23529" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/23529" 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>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr11&hgg_gene=ENST00000312438.8&hgg_start=67364168&hgg_end=67374177&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>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:17412" 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>
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<div><a href="https://medlineplus.gov/genetics/gene/clcf1" 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>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607672[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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607672[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>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000175505" 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>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=CLCF1" 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>
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<div><a href="https://www.gwascentral.org/search?q=CLCF1" 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>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=CLCF1" 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>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=CLCF1&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>
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<div><a href="https://www.pharmgkb.org/gene/PA142672106" 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>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:17412" 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>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1930088" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/CLCF1#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>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1930088" 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>
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<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>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/23529/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>
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<div><a href="https://www.orthodb.org/?ncbi=23529" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-110411-244" 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>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23529" 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>
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<div><a href="https://reactome.org/content/query?q=CLCF1&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>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<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.">
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</span>
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</span>
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</div>
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<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">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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607672
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CARDIOTROPHIN-LIKE CYTOKINE FACTOR 1; CLCF1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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CLC<br />
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B-CELL STIMULATORY FACTOR 3; BSF3
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CLCF1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CLCF1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/11/658?start=-3&limit=10&highlight=658">11q13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:67364168-67374177&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'})">11:67,364,168-67,374,177</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/11/658?start=-3&limit=10&highlight=658">
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11q13.2
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Cold-induced sweating syndrome 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610313"> 610313 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/607672" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/607672" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</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>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<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.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>CLCF1 belongs to the interleukin-6 (IL6; <a href="/entry/147620">147620</a>) family of cytokines, which are involved in cell signaling through phosphorylation of gp130 (IL6ST; <a href="/entry/600694">600694</a>). IL6 family members share similarity in gene structure and have a 4-helix bundle in their protein structure (<a href="#5" class="mim-tip-reference" title="Senaldi, G., Varnum, B. C., Sarmiento, U., Starnes, C., Lile, J., Scully, S., Guo, J., Elliott, G., McNinch, J., Shaklee, C. L., Freeman, D., Manu, F., Simonet, W. S., Boone, T., Chang, M.-S. <strong>Novel neurotrophin-1/B cell-stimulating factor-3: a cytokine of the IL-6 family.</strong> Proc. Nat. Acad. Sci. 96: 11458-11463, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10500198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10500198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10500198[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.96.20.11458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10500198">Senaldi et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10500198" 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>
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<p><a href="#5" class="mim-tip-reference" title="Senaldi, G., Varnum, B. C., Sarmiento, U., Starnes, C., Lile, J., Scully, S., Guo, J., Elliott, G., McNinch, J., Shaklee, C. L., Freeman, D., Manu, F., Simonet, W. S., Boone, T., Chang, M.-S. <strong>Novel neurotrophin-1/B cell-stimulating factor-3: a cytokine of the IL-6 family.</strong> Proc. Nat. Acad. Sci. 96: 11458-11463, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10500198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10500198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10500198[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.96.20.11458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10500198">Senaldi et al. (1999)</a> cloned BSF3, which they also referred to as novel neurotrophin-1 (NNT1), by subtractive hybridization using a cDNA library prepared from phorbol ester-activated Jurkat T cells. The deduced protein contains 225 amino acids, including a 27-amino acid signal peptide. The mature form is predicted to be a 198-amino acid peptide with a molecular mass of 22 kD. BSF3 contains 4 cysteine residues, 2 of which are in the signal peptide, and 1 potential N-linked glycosylation site. The secondary structure is predicted to contain alpha helices. BSF3 shares 19 to 27% homology with other IL6 family members and 96% homology with mouse Bsf3. Northern blot analysis revealed a 2.2-kb transcript expressed predominantly in lymph nodes, spleen, peripheral blood lymphocytes, bone marrow, and fetal liver. Northern blot analysis of mouse tissues revealed strongest expression in lymph nodes, spleen, liver, lung, uterus, and ovary. N-terminal amino acid analysis of BSF3 expressed in HEK293 cells confirmed removal of the signal peptide. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10500198" 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 cardiotrophin-1 (CTF1; <a href="/entry/600435">600435</a>) as query in a database search, <a href="#6" class="mim-tip-reference" title="Shi, Y., Wang, W., Yourey, P. A., Gohari, S., Zukauskas, D., Zhang, J., Ruben, S., Alderson, R. F. <strong>Computational EST database analysis identifies a novel member of the neuropoietic cytokine family.</strong> Biochem. Biophys. Res. Commun. 262: 132-138, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10448081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10448081</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10448081">Shi et al. (1999)</a> identified a full-length clone of CLC. CLC shares 29% identity with CTF1 and 20 to 26% identity with other neuropoietic cytokines. Northern blot analysis detected a 1.9-kb transcript expressed at high levels in spleen and peripheral blood leukocytes, at moderate levels in ovary, placenta, and kidney, and at low levels in colon, heart, lung, and pancreas. The transcript in lung was slightly smaller than that in other tissues. <a href="#6" class="mim-tip-reference" title="Shi, Y., Wang, W., Yourey, P. A., Gohari, S., Zukauskas, D., Zhang, J., Ruben, S., Alderson, R. F. <strong>Computational EST database analysis identifies a novel member of the neuropoietic cytokine family.</strong> Biochem. Biophys. Res. Commun. 262: 132-138, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10448081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10448081</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10448081">Shi et al. (1999)</a> also detected CLC clones in cDNA libraries prepared from activated or resting neutrophils, bone marrow stromal cells, and synovial fibroblasts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10448081" 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>
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<p><a href="#5" class="mim-tip-reference" title="Senaldi, G., Varnum, B. C., Sarmiento, U., Starnes, C., Lile, J., Scully, S., Guo, J., Elliott, G., McNinch, J., Shaklee, C. L., Freeman, D., Manu, F., Simonet, W. S., Boone, T., Chang, M.-S. <strong>Novel neurotrophin-1/B cell-stimulating factor-3: a cytokine of the IL-6 family.</strong> Proc. Nat. Acad. Sci. 96: 11458-11463, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10500198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10500198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10500198[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.96.20.11458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10500198">Senaldi et al. (1999)</a> found that treatment of human neuroblastoma cells with recombinant BSF3 resulted in phosphorylation of gp130, LIFR-beta (<a href="/entry/151443">151443</a>), and STAT3 (<a href="/entry/102582">102582</a>). BSF3 supported the survival of chick embryo motor and sympathetic neurons in culture in a dose-dependent manner and induced growth of murine myeloid leukemia cells. Treatment of mice with recombinant BSF3 increased the level of serum amyloid A (<a href="/entry/104750">104750</a>), potentiated the induction of corticosterone and IL6 by IL1 (see <a href="/entry/147760">147760</a>), and caused body weight loss and B-cell hyperplasia with elevated serum IgG and IgM levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10500198" 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="#6" class="mim-tip-reference" title="Shi, Y., Wang, W., Yourey, P. A., Gohari, S., Zukauskas, D., Zhang, J., Ruben, S., Alderson, R. F. <strong>Computational EST database analysis identifies a novel member of the neuropoietic cytokine family.</strong> Biochem. Biophys. Res. Commun. 262: 132-138, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10448081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10448081</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10448081">Shi et al. (1999)</a> found that recombinant CLC induced the activation of NFKB (see <a href="/entry/164011">164011</a>) and SRE reporter constructs in several mammalian cell lines. The signal transduction pathway for CLC was characterized in a neuroblastoma cell line, and tyrosine phosphorylation of gp130 and STAT1 (<a href="/entry/600555">600555</a>), but not STAT3, was detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10448081" 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>
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<p><a href="#5" class="mim-tip-reference" title="Senaldi, G., Varnum, B. C., Sarmiento, U., Starnes, C., Lile, J., Scully, S., Guo, J., Elliott, G., McNinch, J., Shaklee, C. L., Freeman, D., Manu, F., Simonet, W. S., Boone, T., Chang, M.-S. <strong>Novel neurotrophin-1/B cell-stimulating factor-3: a cytokine of the IL-6 family.</strong> Proc. Nat. Acad. Sci. 96: 11458-11463, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10500198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10500198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10500198[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.96.20.11458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10500198">Senaldi et al. (1999)</a> determined that the CLCF1 gene contains 3 exons and spans approximately 6 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10500198" 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>
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<p>In an Australian man with Crisponi/cold-induced sweating syndrome (CISS2; <a href="/entry/610313">610313</a>), <a href="#4" class="mim-tip-reference" title="Rousseau, F., Gauchat, J.-F., McLeod, J. G., Chevalier, S., Guillet, C., Guilhot, F., Cognet, I., Froger, J., Hahn, A. F., Knappskog, P. M., Gascan, H., Boman, H. <strong>Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.</strong> Proc. Nat. Acad. Sci. 103: 10068-10073, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16782820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16782820</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16782820[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.0509598103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16782820">Rousseau et al. (2006)</a> identified compound heterozygosity for a truncating (<a href="#0001">607672.0001</a>) and a missense mutation (<a href="#0002">607672.0002</a>) in the CLCF1 gene. The mutations were not found in 140 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16782820" 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>In 2 Hungarian sisters with CISS2, <a href="#3" class="mim-tip-reference" title="Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H. <strong>Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases.</strong> J. Neurol. Sci. 293: 68-75, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20400119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20400119</a>] [<a href="https://doi.org/10.1016/j.jns.2010.02.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20400119">Hahn et al. (2010)</a> identified compound heterozygous mutations in the CLCF1 gene (<a href="#0003">607672.0003</a> and <a href="#0004">607672.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20400119" 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>
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<p>By FISH, <a href="#5" class="mim-tip-reference" title="Senaldi, G., Varnum, B. C., Sarmiento, U., Starnes, C., Lile, J., Scully, S., Guo, J., Elliott, G., McNinch, J., Shaklee, C. L., Freeman, D., Manu, F., Simonet, W. S., Boone, T., Chang, M.-S. <strong>Novel neurotrophin-1/B cell-stimulating factor-3: a cytokine of the IL-6 family.</strong> Proc. Nat. Acad. Sci. 96: 11458-11463, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10500198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10500198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10500198[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.96.20.11458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10500198">Senaldi et al. (1999)</a> mapped the CLCF1 gene to chromosome 11q13. By radiation hybrid analysis, <a href="#6" class="mim-tip-reference" title="Shi, Y., Wang, W., Yourey, P. A., Gohari, S., Zukauskas, D., Zhang, J., Ruben, S., Alderson, R. F. <strong>Computational EST database analysis identifies a novel member of the neuropoietic cytokine family.</strong> Biochem. Biophys. Res. Commun. 262: 132-138, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10448081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10448081</a>] [<a href="https://doi.org/10.1006/bbrc.1999.1181" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10448081">Shi et al. (1999)</a> mapped the CLCF1 gene to chromosome 11q13.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10500198+10448081" 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>
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<p>Using chick embryos, <a href="#2" class="mim-tip-reference" title="Forger, N. G., Prevette, D., deLapeyriere, O., de Bovis, B., Wang, S., Bartlett, P., Oppenheim, R. W. <strong>Cardiotrophin-like cytokine/cytokine-like factor 1 is an essential trophic factor for lumbar and facial motoneurons in vivo.</strong> J. Neurosci. 23: 8854-8858, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14523086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14523086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14523086[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/10.1523/JNEUROSCI.23-26-08854.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14523086">Forger et al. (2003)</a> showed that administration of Clc enhanced motor neuron survival. There was no further enhancement through the addition of Cntf (<a href="/entry/118945">118945</a>) or Ctf1. Clc protected lumbar motor neurons, but not sensory neurons, from programmed cell death in embryonic chicks. Deletion of Clf (CRLF1; <a href="/entry/604237">604237</a>) in mice resulted in reduced motor neurons and neonatal lethality. Both Clf and Clc were expressed in skeletal muscle fibers of embryonic mice. <a href="#2" class="mim-tip-reference" title="Forger, N. G., Prevette, D., deLapeyriere, O., de Bovis, B., Wang, S., Bartlett, P., Oppenheim, R. W. <strong>Cardiotrophin-like cytokine/cytokine-like factor 1 is an essential trophic factor for lumbar and facial motoneurons in vivo.</strong> J. Neurosci. 23: 8854-8858, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14523086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14523086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14523086[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/10.1523/JNEUROSCI.23-26-08854.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14523086">Forger et al. (2003)</a> proposed that the CLC-CLF heterodimer is required for survival of specific pools of motor neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14523086" 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="Zou, X., Bolon, B., Pretorius, J. K., Kurahara, C., McCabe, J., Christiansen, K. A., Sun, N., Duryea, D., Foreman, O., Senaldi, G., Itano, A. A., Siu, G. <strong>Neonatal death in mice lacking cardiotrophin-like cytokine is associated with multifocal neuronal hypoplasia.</strong> Vet. Path. 46: 514-519, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19098279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19098279</a>] [<a href="https://doi.org/10.1354/vp.08-VP-0239-B-BC" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19098279">Zou et al. (2009)</a> observed decreased facial motility, failure to suckle, and death within 24 hours of birth in mice lacking Clc. The mutant mice also had nearly a third fewer motor neurons in the facial nucleus and ventral horn of the lumbar spinal cord. <a href="#7" class="mim-tip-reference" title="Zou, X., Bolon, B., Pretorius, J. K., Kurahara, C., McCabe, J., Christiansen, K. A., Sun, N., Duryea, D., Foreman, O., Senaldi, G., Itano, A. A., Siu, G. <strong>Neonatal death in mice lacking cardiotrophin-like cytokine is associated with multifocal neuronal hypoplasia.</strong> Vet. Path. 46: 514-519, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19098279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19098279</a>] [<a href="https://doi.org/10.1354/vp.08-VP-0239-B-BC" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19098279">Zou et al. (2009)</a> concluded that CLC is essential for motor neuron survival during development. They noted that the phenotype of Clc-knockout mice is concordant with those of mice lacking Cntfra or Clf, bolstering the hypothesis that CLC, along with CLF, is a component of the heterodimeric CNTFRA ligand (i.e., CNTFII). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19098279" 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>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), <a href="#1" class="mim-tip-reference" title="Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others. <strong>High-throughput discovery of novel developmental phenotypes.</strong> Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[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/nature19356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27626380">Dickinson et al. (2016)</a> found that knockout of the mouse homolog of human CLCF1 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27626380" 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>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=607672[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>
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<strong>.0001 CRISPONI/COLD-INDUCED SWEATING SYNDROME 2</strong>
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<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> rs104894198 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894198;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/rs104894198?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=rs104894198" 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=rs104894198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In an Australian man with Crisponi/cold-induced sweating syndrome-2 (CISS2; <a href="/entry/610313">610313</a>), <a href="#4" class="mim-tip-reference" title="Rousseau, F., Gauchat, J.-F., McLeod, J. G., Chevalier, S., Guillet, C., Guilhot, F., Cognet, I., Froger, J., Hahn, A. F., Knappskog, P. M., Gascan, H., Boman, H. <strong>Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.</strong> Proc. Nat. Acad. Sci. 103: 10068-10073, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16782820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16782820</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16782820[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.0509598103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16782820">Rousseau et al. (2006)</a> identified compound heterozygosity for a 321C-A transversion and a 590G-T transversion in the CLCF1 gene, resulting in a tyr107-to-ter (Y107X) and an arg197-to-leu (R197L; <a href="#0002">607672.0002</a>) substitution, respectively. The mutations were not found in 140 control chromosomes. Transfection studies demonstrated that truncated CLC containing a stop codon at position 107 cannot be correctly processed and expressed in mammalian cells. Functional studies of R197L CLC revealed an incapacity for the mutant protein to bind to CNTFR (<a href="/entry/118946">118946</a>) and activate subsequent signaling events; structural and docking interaction studies showed that the R197L substitution destabilized the contact site between CLC and CNTFR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16782820" 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>
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<p>For discussion of the arg197-to-leu (R197L) mutation in the CLCF1 gene that was found in compound heterozygous state in a patient with Crisponi/cold-induced sweating syndrome-2 (CISS2; <a href="/entry/610313">610313</a>) by <a href="#4" class="mim-tip-reference" title="Rousseau, F., Gauchat, J.-F., McLeod, J. G., Chevalier, S., Guillet, C., Guilhot, F., Cognet, I., Froger, J., Hahn, A. F., Knappskog, P. M., Gascan, H., Boman, H. <strong>Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.</strong> Proc. Nat. Acad. Sci. 103: 10068-10073, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16782820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16782820</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16782820[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.0509598103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16782820">Rousseau et al. (2006)</a>, see <a href="#0001">607672.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16782820" 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>
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<strong>.0003 CRISPONI/COLD-INDUCED SWEATING SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137853934 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853934;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=rs137853934" 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=rs137853934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000020692" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000020692" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000020692</a>
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<p>In 2 Hungarian sisters with Crisponi/cold-induced sweating syndrome-2 (CISS2; <a href="/entry/610313">610313</a>), <a href="#3" class="mim-tip-reference" title="Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H. <strong>Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases.</strong> J. Neurol. Sci. 293: 68-75, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20400119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20400119</a>] [<a href="https://doi.org/10.1016/j.jns.2010.02.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20400119">Hahn et al. (2010)</a> identified compound heterozygosity for 2 mutations in the CLCF1 gene: a 46T-C transition resulting in a cys16-to-arg (C16R) substitution, and a 676T-C transition (<a href="#0004">607672.0004</a>) resulting in the extension of the terminal stop codon by 171 residues (X226ext171). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20400119" 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>
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<strong>.0004 CRISPONI/COLD-INDUCED SWEATING SYNDROME 2</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137853935 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137853935;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=rs137853935" 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=rs137853935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000032768" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000032768" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000032768</a>
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<p>For discussion of the 676T-C transition in the CLCF1 gene that was found in compound heterozygous state in 2 sisters with Crisponi/cold-induced sweating syndrome-2 (CISS2; <a href="/entry/610313">610313</a>) by <a href="#3" class="mim-tip-reference" title="Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H. <strong>Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases.</strong> J. Neurol. Sci. 293: 68-75, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20400119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20400119</a>] [<a href="https://doi.org/10.1016/j.jns.2010.02.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20400119">Hahn et al. (2010)</a>, see <a href="#0003">607672.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20400119" 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>
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Dickinson2016" class="mim-anchor"></a>
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<div class="">
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Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
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<strong>High-throughput discovery of novel developmental phenotypes.</strong>
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Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27626380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27626380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27626380[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=27626380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature19356" target="_blank">Full Text</a>]
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<a id="Forger2003" class="mim-anchor"></a>
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Forger, N. G., Prevette, D., deLapeyriere, O., de Bovis, B., Wang, S., Bartlett, P., Oppenheim, R. W.
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<strong>Cardiotrophin-like cytokine/cytokine-like factor 1 is an essential trophic factor for lumbar and facial motoneurons in vivo.</strong>
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J. Neurosci. 23: 8854-8858, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14523086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14523086</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14523086[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=14523086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1523/JNEUROSCI.23-26-08854.2003" target="_blank">Full Text</a>]
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<a id="Hahn2010" class="mim-anchor"></a>
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<p class="mim-text-font">
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Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H.
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<strong>Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases.</strong>
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J. Neurol. Sci. 293: 68-75, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20400119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20400119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20400119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.jns.2010.02.028" target="_blank">Full Text</a>]
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<a id="Rousseau2006" class="mim-anchor"></a>
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Rousseau, F., Gauchat, J.-F., McLeod, J. G., Chevalier, S., Guillet, C., Guilhot, F., Cognet, I., Froger, J., Hahn, A. F., Knappskog, P. M., Gascan, H., Boman, H.
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<strong>Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.</strong>
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Proc. Nat. Acad. Sci. 103: 10068-10073, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16782820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16782820</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16782820[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=16782820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0509598103" target="_blank">Full Text</a>]
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Senaldi, G., Varnum, B. C., Sarmiento, U., Starnes, C., Lile, J., Scully, S., Guo, J., Elliott, G., McNinch, J., Shaklee, C. L., Freeman, D., Manu, F., Simonet, W. S., Boone, T., Chang, M.-S.
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<strong>Novel neurotrophin-1/B cell-stimulating factor-3: a cytokine of the IL-6 family.</strong>
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Proc. Nat. Acad. Sci. 96: 11458-11463, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10500198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10500198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10500198[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=10500198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.96.20.11458" target="_blank">Full Text</a>]
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<a id="Shi1999" class="mim-anchor"></a>
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Shi, Y., Wang, W., Yourey, P. A., Gohari, S., Zukauskas, D., Zhang, J., Ruben, S., Alderson, R. F.
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<strong>Computational EST database analysis identifies a novel member of the neuropoietic cytokine family.</strong>
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Biochem. Biophys. Res. Commun. 262: 132-138, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10448081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10448081</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10448081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/bbrc.1999.1181" target="_blank">Full Text</a>]
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<a id="Zou2009" class="mim-anchor"></a>
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Zou, X., Bolon, B., Pretorius, J. K., Kurahara, C., McCabe, J., Christiansen, K. A., Sun, N., Duryea, D., Foreman, O., Senaldi, G., Itano, A. A., Siu, G.
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<strong>Neonatal death in mice lacking cardiotrophin-like cytokine is associated with multifocal neuronal hypoplasia.</strong>
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Vet. Path. 46: 514-519, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19098279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19098279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19098279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1354/vp.08-VP-0239-B-BC" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse - updated : 10/12/2017
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 1/9/2013<br>Marla J. F. O'Neill - updated : 8/14/2006
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Creation Date:
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<span class="mim-text-font">
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Patricia A. Hartz : 4/3/2003
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alopez : 11/01/2024
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carol : 05/01/2018<br>carol : 02/05/2018<br>mgross : 10/12/2017<br>mgross : 10/12/2017<br>alopez : 02/16/2017<br>mcolton : 08/12/2015<br>carol : 8/11/2014<br>carol : 1/11/2013<br>ckniffin : 1/9/2013<br>wwang : 6/5/2007<br>wwang : 3/12/2007<br>wwang : 8/14/2006<br>wwang : 8/14/2006<br>terry : 8/14/2006<br>tkritzer : 4/4/2003<br>tkritzer : 4/3/2003
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<strong>*</strong> 607672
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CARDIOTROPHIN-LIKE CYTOKINE FACTOR 1; CLCF1
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B-CELL STIMULATORY FACTOR 3; BSF3
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Cytogenetic location: 11q13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:67,364,168-67,374,177 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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11q13.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Cold-induced sweating syndrome 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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610313
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>CLCF1 belongs to the interleukin-6 (IL6; 147620) family of cytokines, which are involved in cell signaling through phosphorylation of gp130 (IL6ST; 600694). IL6 family members share similarity in gene structure and have a 4-helix bundle in their protein structure (Senaldi et al., 1999). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Senaldi et al. (1999) cloned BSF3, which they also referred to as novel neurotrophin-1 (NNT1), by subtractive hybridization using a cDNA library prepared from phorbol ester-activated Jurkat T cells. The deduced protein contains 225 amino acids, including a 27-amino acid signal peptide. The mature form is predicted to be a 198-amino acid peptide with a molecular mass of 22 kD. BSF3 contains 4 cysteine residues, 2 of which are in the signal peptide, and 1 potential N-linked glycosylation site. The secondary structure is predicted to contain alpha helices. BSF3 shares 19 to 27% homology with other IL6 family members and 96% homology with mouse Bsf3. Northern blot analysis revealed a 2.2-kb transcript expressed predominantly in lymph nodes, spleen, peripheral blood lymphocytes, bone marrow, and fetal liver. Northern blot analysis of mouse tissues revealed strongest expression in lymph nodes, spleen, liver, lung, uterus, and ovary. N-terminal amino acid analysis of BSF3 expressed in HEK293 cells confirmed removal of the signal peptide. </p><p>Using cardiotrophin-1 (CTF1; 600435) as query in a database search, Shi et al. (1999) identified a full-length clone of CLC. CLC shares 29% identity with CTF1 and 20 to 26% identity with other neuropoietic cytokines. Northern blot analysis detected a 1.9-kb transcript expressed at high levels in spleen and peripheral blood leukocytes, at moderate levels in ovary, placenta, and kidney, and at low levels in colon, heart, lung, and pancreas. The transcript in lung was slightly smaller than that in other tissues. Shi et al. (1999) also detected CLC clones in cDNA libraries prepared from activated or resting neutrophils, bone marrow stromal cells, and synovial fibroblasts. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Senaldi et al. (1999) found that treatment of human neuroblastoma cells with recombinant BSF3 resulted in phosphorylation of gp130, LIFR-beta (151443), and STAT3 (102582). BSF3 supported the survival of chick embryo motor and sympathetic neurons in culture in a dose-dependent manner and induced growth of murine myeloid leukemia cells. Treatment of mice with recombinant BSF3 increased the level of serum amyloid A (104750), potentiated the induction of corticosterone and IL6 by IL1 (see 147760), and caused body weight loss and B-cell hyperplasia with elevated serum IgG and IgM levels. </p><p>Shi et al. (1999) found that recombinant CLC induced the activation of NFKB (see 164011) and SRE reporter constructs in several mammalian cell lines. The signal transduction pathway for CLC was characterized in a neuroblastoma cell line, and tyrosine phosphorylation of gp130 and STAT1 (600555), but not STAT3, was detected. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Senaldi et al. (1999) determined that the CLCF1 gene contains 3 exons and spans approximately 6 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>In an Australian man with Crisponi/cold-induced sweating syndrome (CISS2; 610313), Rousseau et al. (2006) identified compound heterozygosity for a truncating (607672.0001) and a missense mutation (607672.0002) in the CLCF1 gene. The mutations were not found in 140 control chromosomes. </p><p>In 2 Hungarian sisters with CISS2, Hahn et al. (2010) identified compound heterozygous mutations in the CLCF1 gene (607672.0003 and 607672.0004). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Mapping</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>By FISH, Senaldi et al. (1999) mapped the CLCF1 gene to chromosome 11q13. By radiation hybrid analysis, Shi et al. (1999) mapped the CLCF1 gene to chromosome 11q13.3. </p>
|
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</span>
|
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<div>
|
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<br />
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Animal Model</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Using chick embryos, Forger et al. (2003) showed that administration of Clc enhanced motor neuron survival. There was no further enhancement through the addition of Cntf (118945) or Ctf1. Clc protected lumbar motor neurons, but not sensory neurons, from programmed cell death in embryonic chicks. Deletion of Clf (CRLF1; 604237) in mice resulted in reduced motor neurons and neonatal lethality. Both Clf and Clc were expressed in skeletal muscle fibers of embryonic mice. Forger et al. (2003) proposed that the CLC-CLF heterodimer is required for survival of specific pools of motor neurons. </p><p>Zou et al. (2009) observed decreased facial motility, failure to suckle, and death within 24 hours of birth in mice lacking Clc. The mutant mice also had nearly a third fewer motor neurons in the facial nucleus and ventral horn of the lumbar spinal cord. Zou et al. (2009) concluded that CLC is essential for motor neuron survival during development. They noted that the phenotype of Clc-knockout mice is concordant with those of mice lacking Cntfra or Clf, bolstering the hypothesis that CLC, along with CLF, is a component of the heterodimeric CNTFRA ligand (i.e., CNTFII). </p><p>In a study of 1,751 knockout alleles created by the International Mouse Phenotyping Consortium (IMPC), Dickinson et al. (2016) found that knockout of the mouse homolog of human CLCF1 is homozygous-lethal (defined as absence of homozygous mice after screening of at least 28 pups before weaning). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>4 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 CRISPONI/COLD-INDUCED SWEATING SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLCF1, TYR107TER
|
|
|
|
|
|
<br />
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|
|
|
SNP: rs104894198,
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|
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|
|
|
gnomAD: rs104894198,
|
|
|
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|
|
ClinVar: RCV000003064
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In an Australian man with Crisponi/cold-induced sweating syndrome-2 (CISS2; 610313), Rousseau et al. (2006) identified compound heterozygosity for a 321C-A transversion and a 590G-T transversion in the CLCF1 gene, resulting in a tyr107-to-ter (Y107X) and an arg197-to-leu (R197L; 607672.0002) substitution, respectively. The mutations were not found in 140 control chromosomes. Transfection studies demonstrated that truncated CLC containing a stop codon at position 107 cannot be correctly processed and expressed in mammalian cells. Functional studies of R197L CLC revealed an incapacity for the mutant protein to bind to CNTFR (118946) and activate subsequent signaling events; structural and docking interaction studies showed that the R197L substitution destabilized the contact site between CLC and CNTFR. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 CRISPONI/COLD-INDUCED SWEATING SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLCF1, ARG197LEU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs104894203,
|
|
|
|
|
|
gnomAD: rs104894203,
|
|
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|
|
|
ClinVar: RCV000003065
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg197-to-leu (R197L) mutation in the CLCF1 gene that was found in compound heterozygous state in a patient with Crisponi/cold-induced sweating syndrome-2 (CISS2; 610313) by Rousseau et al. (2006), see 607672.0001. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CRISPONI/COLD-INDUCED SWEATING SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLCF1, CYS16ARG
|
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|
|
|
<br />
|
|
|
|
SNP: rs137853934,
|
|
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|
|
|
|
|
ClinVar: RCV000020692
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 Hungarian sisters with Crisponi/cold-induced sweating syndrome-2 (CISS2; 610313), Hahn et al. (2010) identified compound heterozygosity for 2 mutations in the CLCF1 gene: a 46T-C transition resulting in a cys16-to-arg (C16R) substitution, and a 676T-C transition (607672.0004) resulting in the extension of the terminal stop codon by 171 residues (X226ext171). </p>
|
|
</span>
|
|
</div>
|
|
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|
|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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|
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|
|
<div>
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 CRISPONI/COLD-INDUCED SWEATING SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
CLCF1, 676T-C
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs137853935,
|
|
|
|
|
|
|
|
ClinVar: RCV000032768
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the 676T-C transition in the CLCF1 gene that was found in compound heterozygous state in 2 sisters with Crisponi/cold-induced sweating syndrome-2 (CISS2; 610313) by Hahn et al. (2010), see 607672.0003. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dickinson, M. E., Flenniken, A. M., Ji, X., Teboul, L., Wong, M. D., White, J. K., Meehan, T. F., Weninger, W. J., Westerberg, H., Adissu, H., Baker, C. N., Bower, L., and 73 others.
|
|
<strong>High-throughput discovery of novel developmental phenotypes.</strong>
|
|
Nature 537: 508-514, 2016. Note: Erratum: Nature 551: 398 only, 2017.
|
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|
|
[PubMed: 27626380]
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|
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[Full Text: https://doi.org/10.1038/nature19356]
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Forger, N. G., Prevette, D., deLapeyriere, O., de Bovis, B., Wang, S., Bartlett, P., Oppenheim, R. W.
|
|
<strong>Cardiotrophin-like cytokine/cytokine-like factor 1 is an essential trophic factor for lumbar and facial motoneurons in vivo.</strong>
|
|
J. Neurosci. 23: 8854-8858, 2003.
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[PubMed: 14523086]
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[Full Text: https://doi.org/10.1523/JNEUROSCI.23-26-08854.2003]
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H.
|
|
<strong>Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases.</strong>
|
|
J. Neurol. Sci. 293: 68-75, 2010.
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[PubMed: 20400119]
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[Full Text: https://doi.org/10.1016/j.jns.2010.02.028]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Rousseau, F., Gauchat, J.-F., McLeod, J. G., Chevalier, S., Guillet, C., Guilhot, F., Cognet, I., Froger, J., Hahn, A. F., Knappskog, P. M., Gascan, H., Boman, H.
|
|
<strong>Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 10068-10073, 2006.
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[PubMed: 16782820]
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[Full Text: https://doi.org/10.1073/pnas.0509598103]
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</p>
|
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Senaldi, G., Varnum, B. C., Sarmiento, U., Starnes, C., Lile, J., Scully, S., Guo, J., Elliott, G., McNinch, J., Shaklee, C. L., Freeman, D., Manu, F., Simonet, W. S., Boone, T., Chang, M.-S.
|
|
<strong>Novel neurotrophin-1/B cell-stimulating factor-3: a cytokine of the IL-6 family.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 11458-11463, 1999.
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|
[PubMed: 10500198]
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[Full Text: https://doi.org/10.1073/pnas.96.20.11458]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Shi, Y., Wang, W., Yourey, P. A., Gohari, S., Zukauskas, D., Zhang, J., Ruben, S., Alderson, R. F.
|
|
<strong>Computational EST database analysis identifies a novel member of the neuropoietic cytokine family.</strong>
|
|
Biochem. Biophys. Res. Commun. 262: 132-138, 1999.
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|
|
[PubMed: 10448081]
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[Full Text: https://doi.org/10.1006/bbrc.1999.1181]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Zou, X., Bolon, B., Pretorius, J. K., Kurahara, C., McCabe, J., Christiansen, K. A., Sun, N., Duryea, D., Foreman, O., Senaldi, G., Itano, A. A., Siu, G.
|
|
<strong>Neonatal death in mice lacking cardiotrophin-like cytokine is associated with multifocal neuronal hypoplasia.</strong>
|
|
Vet. Path. 46: 514-519, 2009.
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|
[PubMed: 19098279]
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[Full Text: https://doi.org/10.1354/vp.08-VP-0239-B-BC]
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</p>
|
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</li>
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|
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</ol>
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Paul J. Converse - updated : 10/12/2017<br>Ada Hamosh - updated : 02/16/2017<br>Cassandra L. Kniffin - updated : 1/9/2013<br>Marla J. F. O'Neill - updated : 8/14/2006
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Patricia A. Hartz : 4/3/2003
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alopez : 11/01/2024<br>carol : 05/01/2018<br>carol : 02/05/2018<br>mgross : 10/12/2017<br>mgross : 10/12/2017<br>alopez : 02/16/2017<br>mcolton : 08/12/2015<br>carol : 8/11/2014<br>carol : 1/11/2013<br>ckniffin : 1/9/2013<br>wwang : 6/5/2007<br>wwang : 3/12/2007<br>wwang : 8/14/2006<br>wwang : 8/14/2006<br>terry : 8/14/2006<br>tkritzer : 4/4/2003<br>tkritzer : 4/3/2003
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