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Entry
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- *148069 - KERATIN 17, TYPE I; KRT17
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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">*148069</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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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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<li role="presentation">
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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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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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="#geneFunction">Gene Function</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="#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/148069">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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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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=ENSG00000128422;t=ENST00000311208" 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=3872" 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=148069" 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=ENSG00000128422;t=ENST00000311208" 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_000422" 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_000422" 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=148069" 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=01019&isoform_id=01019_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/KRT17" 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/30379,34075,34081,547751,1000379,4262855,4557701,14198021,15080273,21754583,33991652,47939651,48735384,119581154,119581155,119581156,119581157,148615514,148615516,148615518,148615520,194385672" 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/Q04695" 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=3872" 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=ENSG00000128422;t=ENST00000311208" 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=KRT17" 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=KRT17" 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+3872" 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/KRT17" 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:3872" 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/3872" 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=chr17&hgg_gene=ENST00000311208.13&hgg_start=41619442&hgg_end=41624575&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://medlineplus.gov/genetics/gene/krt17" 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=148069[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>
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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=148069[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/ENSG00000128422" 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=KRT17" 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=KRT17" 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=KRT17" 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=KRT17&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/PA30214" 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:6427" 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:96691" 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/KRT17#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:96691" 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/3872/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=3872" 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://wormbase.org/db/gene/gene?name=WBGene00002058;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</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:3872" 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=KRT17&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 109433009<br />
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<strong>ICD10CM:</strong> L72.2<br />
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">ICD+</a>
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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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148069
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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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KERATIN 17, TYPE I; KRT17
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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>
|
|
<span class="mim-font">
|
|
K17<br />
|
|
KA17<br />
|
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CYTOKERATIN 17; CK17
|
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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=KRT17" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KRT17</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/17/551?start=-3&limit=10&highlight=551">17q21.2</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:41619442-41624575&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'})">17:41,619,442-41,624,575</a> </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<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>
|
|
Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=167210,184500" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
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</span>
|
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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>
|
|
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>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/551?start=-3&limit=10&highlight=551">
|
|
17q21.2
|
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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">
|
|
Pachyonychia congenita 2
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/167210"> 167210 </a>
|
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Steatocystoma multiplex
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/184500"> 184500 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
|
|
</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/148069" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/148069" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<p>Among the members of the cytokeratin subfamily of intermediate filament (IF) proteins, cytokeratin-17 is remarkable since it is normally expressed in the basal cells of complex epithelia but not in stratified or simple epithelia. <a href="#17" class="mim-tip-reference" title="Troyanovsky, S. M., Leube, R. E., Franke, W. W. <strong>Characterization of the human gene encoding cytokeratin 17 and its expression pattern.</strong> Europ. J. Cell Biol. 59: 127-137, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1281771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1281771</a>]" pmid="1281771">Troyanovsky et al. (1992)</a> isolated a cDNA clone encoding KRT17 from a HeLa cDNA library. The KRT17 gene encodes a polypeptide of 432 amino acids with a calculated molecular mass of 48,000 Da. Synthesis of cytokeratin-17 seems to be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial 'stem cell.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1281771" 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="#17" class="mim-tip-reference" title="Troyanovsky, S. M., Leube, R. E., Franke, W. W. <strong>Characterization of the human gene encoding cytokeratin 17 and its expression pattern.</strong> Europ. J. Cell Biol. 59: 127-137, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1281771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1281771</a>]" pmid="1281771">Troyanovsky et al. (1992)</a> isolated a number of lambda-phage clones on chromosome 17 that covered 3 distinct, noncontiguous gene regions. Only one of these contained the functional KRT17 gene, which is located about 5 kb 5-prime upstream of the KRT16 gene (<a href="/entry/148067">148067</a>), whereas the other 2 contain unprocessed KRT17 pseudogenes. Each of these genes is part of the large keratin type I gene cluster on chromosome 17. The functional KRT17 gene differs from the pseudogenes by the extent of methylation of certain DNA sequences in the 5-prime upstream region. Using S1-nuclease protection assays and RNAs from several cell lines, <a href="#17" class="mim-tip-reference" title="Troyanovsky, S. M., Leube, R. E., Franke, W. W. <strong>Characterization of the human gene encoding cytokeratin 17 and its expression pattern.</strong> Europ. J. Cell Biol. 59: 127-137, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1281771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1281771</a>]" pmid="1281771">Troyanovsky et al. (1992)</a> identified a single transcriptional start point 26 nucleotides downstream from a TATA box element. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1281771" 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="#17" class="mim-tip-reference" title="Troyanovsky, S. M., Leube, R. E., Franke, W. W. <strong>Characterization of the human gene encoding cytokeratin 17 and its expression pattern.</strong> Europ. J. Cell Biol. 59: 127-137, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1281771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1281771</a>]" pmid="1281771">Troyanovsky et al. (1992)</a> determined that the KRT17 gene is 5 kb long with 8 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1281771" 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="#7" class="mim-tip-reference" title="Kim, S., Wong, P., Coulombe, P. A. <strong>A keratin cytoskeletal protein regulates protein synthesis and epithelial cell growth.</strong> Nature 441: 362-365, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16710422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16710422</a>] [<a href="https://doi.org/10.1038/nature04659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16710422">Kim et al. (2006)</a> showed that keratin-17, an intermediate filament protein rapidly induced in wounded stratified epithelia, regulates cell growth through binding to the adaptor protein 14-3-3-sigma (<a href="/entry/601290">601290</a>). Mouse skin keratinocytes lacking keratin-17 show depressed protein translation and are of smaller size, correlating with decreased Akt/mTOR (<a href="/entry/164730">164730</a>/<a href="/entry/601231">601231</a>) signaling activity. Other signaling kinases have normal activity, pointing to the specificity of this defect. Two amino acid residues located in the N-terminal head domain of keratin-17 are required for the serum-dependent relocalization of 14-3-3-sigma from the nucleus to the cytoplasm, and for the concomitant stimulation of mTOR activity and cell growth. <a href="#7" class="mim-tip-reference" title="Kim, S., Wong, P., Coulombe, P. A. <strong>A keratin cytoskeletal protein regulates protein synthesis and epithelial cell growth.</strong> Nature 441: 362-365, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16710422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16710422</a>] [<a href="https://doi.org/10.1038/nature04659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16710422">Kim et al. (2006)</a> concluded that their findings revealed a new and unexpected role for the intermediate filament cytoskeleton in influencing cell growth and size by regulating protein synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16710422" 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 mice, <a href="#13" class="mim-tip-reference" title="Takeo, M., Chou, W. C., Sun, Q., Lee, W., Rabbani, P., Loomis, C., Taketo, M. M., Ito, M. <strong>Wnt activation in nail epithelium couples nail growth to digit regeneration.</strong> Nature 499: 228-232, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23760480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23760480</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23760480[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/nature12214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23760480">Takeo et al. (2013)</a> showed that nail stem cells (NSCs) reside in the proximal nail matrix and are defined by high expression of keratin-14 (<a href="/entry/148066">148066</a>), keratin-17, and KI67 (MKI67; <a href="/entry/176741">176741</a>). The mechanisms governing NSC differentiation are coupled directly to their ability to orchestrate digit regeneration. Early nail progenitors undergo Wnt (see <a href="/entry/164820">164820</a>)-dependent differentiation into the nail. After amputation, this Wnt activation is required for nail regeneration and also for attracting nerves that promote mesenchymal blastema growth, leading to the regeneration of the digit. Amputations proximal to the Wnt-active nail progenitors result in failure to regenerate the nail or digit. Nevertheless, beta-catenin (<a href="/entry/116806">116806</a>) stabilization in the NSC region induced their regeneration. <a href="#13" class="mim-tip-reference" title="Takeo, M., Chou, W. C., Sun, Q., Lee, W., Rabbani, P., Loomis, C., Taketo, M. M., Ito, M. <strong>Wnt activation in nail epithelium couples nail growth to digit regeneration.</strong> Nature 499: 228-232, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23760480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23760480</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23760480[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/nature12214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23760480">Takeo et al. (2013)</a> concluded that their results established a link between nail stem cell differentiation and digit regeneration, and suggested that NSCs may have the potential to contribute to the development of novel treatments for amputees. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23760480" 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="#9" class="mim-tip-reference" title="McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., Navsaria, H. A., Leigh, I. M., Strachan, T., Kunkeler, L., Munro, C. S. <strong>Keratin 16 and keratin 17 mutations cause pachyonychia congenita.</strong> Nature Genet. 9: 273-278, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539673</a>] [<a href="https://doi.org/10.1038/ng0395-273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539673">McLean et al. (1995)</a> found a mutation in the KRT17 gene (<a href="#0001">148069.0001</a>) in a large Scottish kindred in which pachyonychia congenita had been shown to be linked to markers that mapped within the type I keratin cluster on 17q (PC2; <a href="/entry/167210">167210</a>) (<a href="#10" class="mim-tip-reference" title="Munro, C. S., Carter, S., Bryce, S., Hall, M., Rees, J. L., Kunkeler, L., Stephenson, A., Strachan, T. <strong>A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.</strong> J. Med. Genet. 31: 675-678, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7529318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7529318</a>] [<a href="https://doi.org/10.1136/jmg.31.9.675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7529318">Munro et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7529318+7539673" 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="#12" class="mim-tip-reference" title="Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I. <strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong> J. Invest. Derm. 108: 220-223, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12335315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9008238">Smith et al. (1997)</a> reported heterozygous KRT17 missense mutations in the same conserved protein motif in a further 5 families with PC, described as having the Jackson-Lawler type. They also showed heterozygous missense mutations in KRT17 in 2 families diagnosed with steatocystoma multiplex (see <a href="#0004">148069.0004</a> and <a href="#0005">148069.0005</a>). On review, mild nail changes were observed in some, but not all, of these patients. Cysts in the steatocystoma families and the families with pachyonychia congenita of the Jackson-Lawler type were indistinguishable clinically and histologically. They concluded that phenotypic variation is observed with KRT17 mutations as is the case with other keratin disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008238" 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>KRT17 is expressed in the nail bed, hair follicle, sebaceous glands, and other epidermal appendages. <a href="#3" class="mim-tip-reference" title="Covello, S. P., Smith, F. J. D., Sillevis Smitt, J. H., Paller, A. S., Munro, C. S., Jonkman, M. F., Uitto, J., McLean, W. H. I. <strong>Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.</strong> Brit. J. Derm. 139: 475-480, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9767294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9767294</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1998.02413.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9767294">Covello et al. (1998)</a> described 3 unrelated kindreds carrying KRT17 mutations. Two of these families had identical missense mutations (R94C; <a href="#0006">148069.0006</a>) in the 1A domain of KRT17. However, whereas affected members of 1 kindred had the classic features of Jackson-Lawler pachyonychia congenita, affected persons in the other family had the steatocystoma multiplex phenotype. In a third family with pachyonychia congenita, an N92S mutation (<a href="#0002">148069.0002</a>) was detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9767294" 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 mother and son of Caribbean origin with Jackson-Lawler pachyonychia congenita, <a href="#1" class="mim-tip-reference" title="Celebi, J. T., Tanzi, E. L., Yao, Y. J., Michael, E. J., Peacocke, M. <strong>Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.</strong> J. Invest. Derm. 113: 848-850, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10571744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10571744</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00762.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10571744">Celebi et al. (1999)</a> identified heterozygosity for a missense mutation in KRT17 (M88T; <a href="#0007">148069.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10571744" 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 3 unrelated probands with PC2, <a href="#11" class="mim-tip-reference" title="Smith, F. J. D., Coleman, C. M., Bayoumy, N. M., Tenconi, R., Nelson, J., David, A., McLean, W. H. I. <strong>Novel keratin 17 mutations in pachyonychia congenita type 2.</strong> J. Invest. Derm. 116: 806-808, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11348474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11348474</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2001.01335.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11348474">Smith et al. (2001)</a> identified heterozygosity for mutations in exon 1 of the KRT17 gene, including a 15-bp deletion in the proband from an Italian Caucasian family (<a href="#0008">148069.0008</a>), which the authors noted was the first report of a deletion in KRT17. The other 2 probands had missense mutations, an R94P substitution in an Australian Caucasian female (<a href="#0009">148069.0009</a>), and an L95Q substitution in a French Caucasian female (<a href="#0010">148069.0010</a>). The authors observed that the deletion produced a similar clinical phenotype to that seen with missense mutations in KRT17. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11348474" 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 cohort of 13 probands with clinically heterogeneous pachyonychia congenita, <a href="#14" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> screened for mutations in the K6A (<a href="/entry/148041">148041</a>), K16 (<a href="/entry/148067">148067</a>), and K17 genes, and identified 4 patients with heterozygous missense mutations in the K17 gene. Three of the patients carried novel mutations (<a href="#0011">148069.0011</a>-<a href="#0013">148069.0013</a>), and 1 patient had a mutation that had previously been reported in a family with steatocystoma multiplex (R94H; <a href="#0005">148069.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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 19-year-old Japanese man with PC, <a href="#5" class="mim-tip-reference" title="Hashiguchi, T., Yotsumoto, S., Shimada, H., Terasaki, K., Setoyama, M., Kobayashi, K., Saheki, T., Kanzaki, T. <strong>A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. (Letter)</strong> J. Invest. Derm. 118: 545-547, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11874497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11874497</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01701.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11874497">Hashiguchi et al. (2002)</a> directly sequenced the KRT17 gene and identified identified heterozygosity for a de novo missense mutation (V102M; <a href="#0014">148069.0014</a>). The variant was not found in his unaffected parents or in 50 Japanese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11874497" 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 an affected father, daughter, and granddaughter from a large 5-generation Asian family with PC, <a href="#6" class="mim-tip-reference" title="Kanda, M., Natsuga, K., Nishie, W., Akiyama, M., Nagasaki, A., Shimizu, T., Shimizu, H. <strong>Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation.</strong> Brit. J. Derm. 160: 465-468, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19120334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19120334</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2008.08983.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19120334">Kanda et al. (2009)</a> sequenced the KRT6B (<a href="/entry/148042">148042</a>) and KRT17 genes and identified heterozygosity for the previously reported L99P mutation in the KRT17 gene (<a href="#0013">148069.0013</a>). The mutation was not found in 50 control individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19120334" 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>K17-null mice develop alopecia in the first week after birth, correlating with hair shaft fragility and untimely apoptosis in the hair bulb (<a href="#8" class="mim-tip-reference" title="McGowan, K. M., Tong, X., Colucci-Guyon, E., Langa, F., Babinet, C., Coulombe, P. A. <strong>Keratin 17 null mice exhibit age- and strain-dependent alopecia.</strong> Genes Dev. 16: 1412-1422, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12050118[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/10.1101/gad.979502" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12050118">McGowan et al., 2002</a>). <a href="#16" class="mim-tip-reference" title="Tong, X., Coulombe, P. A. <strong>Keratin 17 modulates hair follicle cycling in a TNF-alpha-dependent fashion.</strong> Genes Dev. 20: 1353-1364, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16702408[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/10.1101/gad.1387406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16702408">Tong and Coulombe (2006)</a> showed that this abnormal apoptosis reflected premature entry into catagen. K17-null skin keratinocytes in primary culture were more sensitive to Tnf (<a href="/entry/191160">191160</a>) than to other proapoptotic challenges. K17 interacted with Tradd (<a href="/entry/603500">603500</a>), a death adaptor essential for Tnf receptor-1 (TNFRSF1A; <a href="/entry/191190">191190</a>)-dependent signal transduction, suggesting a functional link between K17 and TNF signaling. The activity of Nfkb (see <a href="/entry/164011">164011</a>), a downstream target of Tnf, was increased in K17-null skin. Ablation of Tnf partly rescued the hair cycling defect of K17-null mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16702408+12050118" 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>Gli2(tg) mice are transgenic mice that overexpress the hedgehog signaling protein Gli2 (<a href="/entry/165230">165230</a>) and develop basal cell carcinoma (BCC; see <a href="/entry/605462">605462</a>) and basaloid follicular hamartoma. <a href="#4" class="mim-tip-reference" title="DePianto, D., Kerns, M. L., Dlugosz, A. A., Coulombe, P. A. <strong>Keratin 17 promotes epithelial proliferation and tumor growth by polarizing the immune response in skin.</strong> Nature Genet. 42: 910-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20871598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20871598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20871598[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/ng.665" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20871598">DePianto et al. (2010)</a> found that expression of Krt17 was induced before the onset of lesions in the epidermis of Gli2(tg) mice. Deletion of Krt17 in Gli2(tg) mice reduced the inflammatory response and the frequency of mitotically active cells, and it resulted in better preservation of skin barrier function. Absence of Krt17 in Gli2(tg) Krt17 -/- skin correlated with reduction in T-helper-1 (Th1) proinflammatory and Th17 antimicrobial T cells and induction of Th2 antiinflammatory markers. Deletion of Krt17 also downregulated BCC-related matrix metalloproteases (e.g., MMP3; <a href="/entry/185250">185250</a>) and normalized altered cytokine expression. Phorbol ester treatment enhanced proliferation of Gli2(tg) cells, but not Gli2(tg) Krt17 -/- cells. <a href="#4" class="mim-tip-reference" title="DePianto, D., Kerns, M. L., Dlugosz, A. A., Coulombe, P. A. <strong>Keratin 17 promotes epithelial proliferation and tumor growth by polarizing the immune response in skin.</strong> Nature Genet. 42: 910-914, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20871598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20871598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20871598[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/ng.665" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20871598">DePianto et al. (2010)</a> concluded that KRT17 has a role in modulating the immune response in hedgehog-driven basaloid skin tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20871598" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928896 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928896;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=rs28928896" 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=rs28928896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of the large 5-generation Scottish kindred with autosomal dominant pachyonychia congenita, mapped to chromosome 17q12-q21 by <a href="#10" class="mim-tip-reference" title="Munro, C. S., Carter, S., Bryce, S., Hall, M., Rees, J. L., Kunkeler, L., Stephenson, A., Strachan, T. <strong>A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.</strong> J. Med. Genet. 31: 675-678, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7529318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7529318</a>] [<a href="https://doi.org/10.1136/jmg.31.9.675" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7529318">Munro et al. (1994)</a> and described as the Jackson-Lawler type (PC2; <a href="/entry/167210">167210</a>), <a href="#9" class="mim-tip-reference" title="McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., Navsaria, H. A., Leigh, I. M., Strachan, T., Kunkeler, L., Munro, C. S. <strong>Keratin 16 and keratin 17 mutations cause pachyonychia congenita.</strong> Nature Genet. 9: 273-278, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539673</a>] [<a href="https://doi.org/10.1038/ng0395-273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7539673">McLean et al. (1995)</a> found heterozygosity for an asn92-to-asp (N92D) missense mutation in the helix initiation motif of keratin-17. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7539673+7529318" 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 a family in which 5 individuals in 3 generations had pachyonychia congenita described as the Jackson-Lawler type (PC2; <a href="/entry/167210">167210</a>), <a href="#12" class="mim-tip-reference" title="Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I. <strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong> J. Invest. Derm. 108: 220-223, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12335315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9008238">Smith et al. (1997)</a> found an A-to-G transition in the KRT17 gene, producing a predicted asn92-to-ser (N92S) substitution. The identical mutation was found in 3 sporadic cases. The mutation created a new DdelI site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008238" 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 affected members of a 3-generation British Caucasian family with PC2, originally described by <a href="#15" class="mim-tip-reference" title="Todd, P., Garioch, J., Rademaker, M., Susskind, W., Gemell, C., Thomson, J. <strong>Pachyonychia congenita complicated by hidradenitis suppurativa: a family study.</strong> Brit. J. Derm. 123: 663-666, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2248894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2248894</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1990.tb01485.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2248894">Todd et al. (1990)</a> as having pachyonychia with hidradenitis suppurativa, <a href="#3" class="mim-tip-reference" title="Covello, S. P., Smith, F. J. D., Sillevis Smitt, J. H., Paller, A. S., Munro, C. S., Jonkman, M. F., Uitto, J., McLean, W. H. I. <strong>Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.</strong> Brit. J. Derm. 139: 475-480, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9767294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9767294</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1998.02413.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9767294">Covello et al. (1998)</a> identified heterozygosity for the N92S mutation in the KRT17 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9767294+2248894" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28933088 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28933088;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=rs28933088" 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=rs28933088" 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=RCV000015690 OR RCV000056521" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015690, RCV000056521" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015690...</a>
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<p>In a family in which the father and 2 daughters had pachyonychia congenita described as the Jackson-Lawler type (PC2; <a href="/entry/167210">167210</a>), <a href="#12" class="mim-tip-reference" title="Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I. <strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong> J. Invest. Derm. 108: 220-223, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12335315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9008238">Smith et al. (1997)</a> identified a heterozygous 440T-G transversion in the KRT17 gene, producing a tyr98-to-asp (Y98D) substitution in affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008238" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928896 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928896;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=rs28928896" 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=rs28928896" 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=RCV000015691 OR RCV000056509" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015691, RCV000056509" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015691...</a>
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<p>In a mother and daughter with steatocystoma multiplex (<a href="/entry/184500">184500</a>), <a href="#12" class="mim-tip-reference" title="Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I. <strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong> J. Invest. Derm. 108: 220-223, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12335315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9008238">Smith et al. (1997)</a> demonstrated heterozygosity for the transversion 422A-C in the KRT17 gene, which was predicted to produce an asn92-to-his (N92H) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008238" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928897 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928897;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=rs28928897" 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=rs28928897" 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=RCV000015692 OR RCV000056515 OR RCV000114414 OR RCV002496374" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015692, RCV000056515, RCV000114414, RCV002496374" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015692...</a>
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<p>In a kindred in which 8 individuals in 3 generations had steatocystoma multiplex (<a href="/entry/184500">184500</a>), <a href="#12" class="mim-tip-reference" title="Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I. <strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong> J. Invest. Derm. 108: 220-223, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12335315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9008238">Smith et al. (1997)</a> found heterozygosity for a purine transition, c.429G-A, causing a predicted arg94-to-his (R94H) substitution. The mutation occurred in residue 10 of the KRT17 helix initiation peptide and potentially was a CpG deamination mutation. Although originally diagnosed with steatocystoma multiplex, on restudy some but not all of the patients were found to have mild nail changes compatible with those of pachyonychia congenita (see PC2, <a href="/entry/167210">167210</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008238" 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="#14" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> reported this mutation in a patient with sporadic pachyonychia congenita (PC2). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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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<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> rs58730926 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs58730926;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/rs58730926?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=rs58730926" 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=rs58730926" 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=RCV000015694 OR RCV000056513 OR RCV000114415" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015694, RCV000056513, RCV000114415" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015694...</a>
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<p><a href="#3" class="mim-tip-reference" title="Covello, S. P., Smith, F. J. D., Sillevis Smitt, J. H., Paller, A. S., Munro, C. S., Jonkman, M. F., Uitto, J., McLean, W. H. I. <strong>Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.</strong> Brit. J. Derm. 139: 475-480, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9767294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9767294</a>] [<a href="https://doi.org/10.1046/j.1365-2133.1998.02413.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9767294">Covello et al. (1998)</a> reported 2 unrelated kindreds with the identical missense mutation (arg94-to-cys; R94C) in the 1A domain of keratin-17. However, whereas the affected mother and son of the first kindred had the classic features of Jackson-Lawler pachyonychia congenita (PC2; <a href="/entry/167210">167210</a>), the affected Dutch Caucasian mother, son, and daughter in the second family had the steatocystoma multiplex phenotype (<a href="/entry/184500">184500</a>) without any nail changes or other skin, hair, or mucosal abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9767294" 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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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928898 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928898;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=rs28928898" 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=rs28928898" 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=RCV000015696 OR RCV000056508" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015696, RCV000056508" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015696...</a>
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<p><a href="#1" class="mim-tip-reference" title="Celebi, J. T., Tanzi, E. L., Yao, Y. J., Michael, E. J., Peacocke, M. <strong>Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.</strong> J. Invest. Derm. 113: 848-850, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10571744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10571744</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1999.00762.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10571744">Celebi et al. (1999)</a> described a mother and son of Caribbean origin with Jackson-Lawler pachyonychia congenita (PC; <a href="/entry/167210">167210</a>) due to heterozygosity for a met88-to-thr mutation (M88T) resulting from an ATG-to-ACG change in the KRT17 gene. The mutation was not found in the proband's unaffected mother or in 50 unrelated controls; DNA was unavailable from her father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10571744" 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>.0008 PACHYONYCHIA CONGENITA 2</strong>
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KRT17, 15-BP DEL, NT279
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs57674130 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs57674130;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=rs57674130" 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=rs57674130" 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=RCV000015697 OR RCV000056514" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015697, RCV000056514" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015697...</a>
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<p>In an Italian Caucasian family with Jackson-Lawler pachyonychia congenita (PC2; <a href="/entry/167210">167210</a>) described by <a href="#2" class="mim-tip-reference" title="Clementi, M., Cardin de Stefani, E., Dei Rossi, C., Avventi, V., Tenconi, R. <strong>Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome.</strong> Brit. J. Derm. 114: 367-370, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3954955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3954955</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1986.tb02829.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3954955">Clementi et al. (1986)</a>, <a href="#11" class="mim-tip-reference" title="Smith, F. J. D., Coleman, C. M., Bayoumy, N. M., Tenconi, R., Nelson, J., David, A., McLean, W. H. I. <strong>Novel keratin 17 mutations in pachyonychia congenita type 2.</strong> J. Invest. Derm. 116: 806-808, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11348474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11348474</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2001.01335.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11348474">Smith et al. (2001)</a> reported a novel heterozygous 15-bp deletion in the KRT17 gene, 279del15. This was the first report of a deletion in KRT17 and led to removal of the amino acid sequence RLASY (R94-98del) from the highly conserved 1A domain of the KRT17 protein (deletion of 1A domain residues 10-14). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11348474+3954955" 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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<a id="0009" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0009 PACHYONYCHIA CONGENITA 2</strong>
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</h4>
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KRT17, ARG94PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928897 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928897;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=rs28928897" 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=rs28928897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015698 OR RCV000056516" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015698, RCV000056516" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015698...</a>
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<p>In an Australian Caucasian female with sporadic Jackson-Lawler pachyonychia congenita (PC2; <a href="/entry/167210">167210</a>), <a href="#11" class="mim-tip-reference" title="Smith, F. J. D., Coleman, C. M., Bayoumy, N. M., Tenconi, R., Nelson, J., David, A., McLean, W. H. I. <strong>Novel keratin 17 mutations in pachyonychia congenita type 2.</strong> J. Invest. Derm. 116: 806-808, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11348474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11348474</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2001.01335.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11348474">Smith et al. (2001)</a> reported a novel heterozygous arg94-to-pro (R94P) mutation that arose from a 281G-C transversion in the KRT17 gene. This mutation occurred within the helix initiation 1A domain hotspot for pathogenic keratin mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11348474" 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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<a id="0010" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0010 PACHYONYCHIA CONGENITA 2</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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KRT17, LEU95GLN
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</div>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928899 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928899;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=rs28928899" 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=rs28928899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015699 OR RCV000056517" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015699, RCV000056517" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015699...</a>
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<span class="mim-text-font">
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<p>In a French Caucasian female with sporadic Jackson-Lawler pachyonychia congenita (PC2; <a href="/entry/167210">167210</a>), <a href="#11" class="mim-tip-reference" title="Smith, F. J. D., Coleman, C. M., Bayoumy, N. M., Tenconi, R., Nelson, J., David, A., McLean, W. H. I. <strong>Novel keratin 17 mutations in pachyonychia congenita type 2.</strong> J. Invest. Derm. 116: 806-808, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11348474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11348474</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2001.01335.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11348474">Smith et al. (2001)</a> reported a novel heterozygous 284T-A transversion in the KRT17 gene, resulting in a leu95-to-gln (L95Q) amino acid substitution. This mutation occurred within the helix initiation 1A domain hotspot for pathogenic keratin mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11348474" 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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<a id="0011" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0011 PACHYONYCHIA CONGENITA 2</strong>
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</h4>
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KRT17, LEU95PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28928899 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28928899;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=rs28928899" 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=rs28928899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015700 OR RCV000056518" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015700, RCV000056518" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015700...</a>
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<p>In a patient with sporadic pachyonychia congenita (PC2; <a href="/entry/167210">167210</a>), <a href="#14" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> reported a leu95-to-pro (L95P) mutation in the 1A domain of the KRT17 protein, resulting from a 284T-C transition. This mutation may also be referred to as L11P. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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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<a id="0012" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0012 PACHYONYCHIA CONGENITA 2</strong>
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</span>
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</h4>
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KRT17, SER97DEL
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121912478 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121912478;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=rs121912478" 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=rs121912478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000015701 OR RCV000255904 OR RCV002494801" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015701, RCV000255904, RCV002494801" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015701...</a>
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</span>
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<span class="mim-text-font">
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<p>In a patient with sporadic pachyonychia congenita (PC2; <a href="/entry/167210">167210</a>), <a href="#14" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> reported a deletion of 3 nucleotides at position 289 of the KRT17 gene (289delCCT), predicting deletion of serine-97 (S97del) in the 1A domain. This mutation may also be referred to as S13del. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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>.0013 PACHYONYCHIA CONGENITA 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">rs28933089 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28933089;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=rs28933089" 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=rs28933089" 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=RCV000015702 OR RCV000056523" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015702, RCV000056523" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015702...</a>
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<p>In a family with pachyonychia congenita (PC2; <a href="/entry/167210">167210</a>), <a href="#14" class="mim-tip-reference" title="Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I. <strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong> J. Invest. Derm. 117: 1391-1396, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01565.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11886499">Terrinoni et al. (2001)</a> identified a leu99-to-pro (L99P) mutation in the 1A domain of the KRT17 protein, resulting from a c.296T-C transition. This mutation may also be referred to as L15P. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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 an affected father, daughter, and granddaughter from a large 5-generation Asian family with pachyonychia congenita, <a href="#6" class="mim-tip-reference" title="Kanda, M., Natsuga, K., Nishie, W., Akiyama, M., Nagasaki, A., Shimizu, T., Shimizu, H. <strong>Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation.</strong> Brit. J. Derm. 160: 465-468, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19120334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19120334</a>] [<a href="https://doi.org/10.1111/j.1365-2133.2008.08983.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19120334">Kanda et al. (2009)</a> sequenced the KRT6B (<a href="/entry/148042">148042</a>) and KRT17 genes and identified heterozygosity for the previously reported L99P mutation in the KRT17 gene (<a href="#0013">148069.0013</a>). The mutation was not found in 50 control individuals. Genetic analysis of cystic tissue from the proband and her father showed the L99P mutation in 1 allele, as seen in the family's peripheral blood. There was no evidence for loss of heterozygosity or second-hit mutations, and the authors concluded that the cysts in PC2 are benign, and their formation does not require a complete functional loss of keratin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19120334" 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>.0014 PACHYONYCHIA CONGENITA 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">rs59977263 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs59977263;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=rs59977263" 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=rs59977263" 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=RCV000015703 OR RCV000056524" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000015703, RCV000056524" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000015703...</a>
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<p>In a 19-year-old Japanese man with pachyonychia congenita (PC2; <a href="/entry/167210">167210</a>), <a href="#5" class="mim-tip-reference" title="Hashiguchi, T., Yotsumoto, S., Shimada, H., Terasaki, K., Setoyama, M., Kobayashi, K., Saheki, T., Kanzaki, T. <strong>A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. (Letter)</strong> J. Invest. Derm. 118: 545-547, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11874497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11874497</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01701.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11874497">Hashiguchi et al. (2002)</a> identified heterozygosity for a de novo 452G-A (GTG to ATG) transition in the KRT17 gene, resulting in a val102-to-met (V102M) substitution within the highly conserved helix initiation motif 1A domain. The mutation was not found in 50 Japanese controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11874497" 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>REFERENCES</strong>
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<a id="Celebi1999" class="mim-anchor"></a>
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Celebi, J. T., Tanzi, E. L., Yao, Y. J., Michael, E. J., Peacocke, M.
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<strong>Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.</strong>
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J. Invest. Derm. 113: 848-850, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10571744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10571744</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10571744" 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/10.1046/j.1523-1747.1999.00762.x" target="_blank">Full Text</a>]
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Clementi, M., Cardin de Stefani, E., Dei Rossi, C., Avventi, V., Tenconi, R.
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<strong>Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome.</strong>
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Brit. J. Derm. 114: 367-370, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3954955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3954955</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3954955" 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/10.1111/j.1365-2133.1986.tb02829.x" target="_blank">Full Text</a>]
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Covello, S. P., Smith, F. J. D., Sillevis Smitt, J. H., Paller, A. S., Munro, C. S., Jonkman, M. F., Uitto, J., McLean, W. H. I.
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<strong>Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.</strong>
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Brit. J. Derm. 139: 475-480, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9767294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9767294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9767294" 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/10.1046/j.1365-2133.1998.02413.x" target="_blank">Full Text</a>]
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DePianto, D., Kerns, M. L., Dlugosz, A. A., Coulombe, P. A.
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<strong>Keratin 17 promotes epithelial proliferation and tumor growth by polarizing the immune response in skin.</strong>
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Nature Genet. 42: 910-914, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20871598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20871598</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20871598[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=20871598" 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/ng.665" target="_blank">Full Text</a>]
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Hashiguchi, T., Yotsumoto, S., Shimada, H., Terasaki, K., Setoyama, M., Kobayashi, K., Saheki, T., Kanzaki, T.
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<strong>A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. (Letter)</strong>
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J. Invest. Derm. 118: 545-547, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11874497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11874497</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11874497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kanda, M., Natsuga, K., Nishie, W., Akiyama, M., Nagasaki, A., Shimizu, T., Shimizu, H.
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<strong>Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation.</strong>
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Brit. J. Derm. 160: 465-468, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19120334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19120334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19120334" 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/10.1111/j.1365-2133.2008.08983.x" target="_blank">Full Text</a>]
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Kim, S., Wong, P., Coulombe, P. A.
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<strong>A keratin cytoskeletal protein regulates protein synthesis and epithelial cell growth.</strong>
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Nature 441: 362-365, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16710422/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16710422</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16710422" 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/nature04659" target="_blank">Full Text</a>]
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McGowan, K. M., Tong, X., Colucci-Guyon, E., Langa, F., Babinet, C., Coulombe, P. A.
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<strong>Keratin 17 null mice exhibit age- and strain-dependent alopecia.</strong>
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Genes Dev. 16: 1412-1422, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12050118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12050118</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12050118[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=12050118" 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/10.1101/gad.979502" target="_blank">Full Text</a>]
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</p>
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<a id="9" class="mim-anchor"></a>
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<a id="McLean1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., Navsaria, H. A., Leigh, I. M., Strachan, T., Kunkeler, L., Munro, C. S.
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<strong>Keratin 16 and keratin 17 mutations cause pachyonychia congenita.</strong>
|
|
Nature Genet. 9: 273-278, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7539673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7539673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7539673" 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/ng0395-273" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Munro1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Munro, C. S., Carter, S., Bryce, S., Hall, M., Rees, J. L., Kunkeler, L., Stephenson, A., Strachan, T.
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<strong>A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.</strong>
|
|
J. Med. Genet. 31: 675-678, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7529318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7529318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7529318" 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/10.1136/jmg.31.9.675" target="_blank">Full Text</a>]
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</p>
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<a id="11" class="mim-anchor"></a>
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<a id="Smith2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smith, F. J. D., Coleman, C. M., Bayoumy, N. M., Tenconi, R., Nelson, J., David, A., McLean, W. H. I.
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<strong>Novel keratin 17 mutations in pachyonychia congenita type 2.</strong>
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J. Invest. Derm. 116: 806-808, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11348474/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11348474</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11348474" 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/10.1046/j.1523-1747.2001.01335.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Smith1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I.
|
|
<strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong>
|
|
J. Invest. Derm. 108: 220-223, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9008238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9008238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9008238" 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/10.1111/1523-1747.ep12335315" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Takeo2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Takeo, M., Chou, W. C., Sun, Q., Lee, W., Rabbani, P., Loomis, C., Taketo, M. M., Ito, M.
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<strong>Wnt activation in nail epithelium couples nail growth to digit regeneration.</strong>
|
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Nature 499: 228-232, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23760480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23760480</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23760480[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=23760480" 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/nature12214" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Terrinoni2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Terrinoni, A., Smith, F. J. D., Didona, B., Canzona, F., Paradisi, M., Huber, M., Hohl, D., David, A., Verloes, A., Leigh, I. M., Munro, C. S., Melino, G., McLean, W. H. I.
|
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<strong>Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.</strong>
|
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J. Invest. Derm. 117: 1391-1396, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11886499/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11886499</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11886499" 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/10.1046/j.0022-202x.2001.01565.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Todd1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Todd, P., Garioch, J., Rademaker, M., Susskind, W., Gemell, C., Thomson, J.
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<strong>Pachyonychia congenita complicated by hidradenitis suppurativa: a family study.</strong>
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Brit. J. Derm. 123: 663-666, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2248894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2248894</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2248894" 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/10.1111/j.1365-2133.1990.tb01485.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Tong2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Tong, X., Coulombe, P. A.
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<strong>Keratin 17 modulates hair follicle cycling in a TNF-alpha-dependent fashion.</strong>
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Genes Dev. 20: 1353-1364, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702408/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702408</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16702408[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=16702408" 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/10.1101/gad.1387406" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Troyanovsky1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Troyanovsky, S. M., Leube, R. E., Franke, W. W.
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<strong>Characterization of the human gene encoding cytokeratin 17 and its expression pattern.</strong>
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Europ. J. Cell Biol. 59: 127-137, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1281771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1281771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1281771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</ol>
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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="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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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Marla J. F. O'Neill - updated : 06/21/2024
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 4/10/2014<br>Ada Hamosh - updated : 8/29/2013<br>Patricia A. Hartz - updated : 5/24/2011<br>Patricia A. Hartz - updated : 6/12/2006<br>Ada Hamosh - updated : 6/1/2006<br>Gary A. Bellus - updated : 4/28/2003<br>Gary A. Bellus - updated : 4/28/2003<br>Gary A. Bellus - updated : 4/24/2003<br>Victor A. McKusick - updated : 1/31/2000<br>Victor A. McKusick - updated : 7/15/1998<br>Victor A. McKusick - updated : 3/25/1997
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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="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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Victor A. McKusick : 12/22/1992
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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="editHistory" class="mim-anchor"></a>
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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alopez : 06/21/2024
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/10/2023<br>alopez : 10/10/2016<br>mgross : 11/11/2015<br>carol : 4/10/2014<br>alopez : 8/29/2013<br>mgross : 5/24/2011<br>terry : 5/24/2011<br>alopez : 6/15/2007<br>terry : 5/30/2007<br>mgross : 6/12/2006<br>alopez : 6/2/2006<br>terry : 6/1/2006<br>carol : 1/18/2006<br>carol : 1/17/2006<br>alopez : 4/28/2003<br>alopez : 4/28/2003<br>alopez : 4/24/2003<br>alopez : 4/24/2003<br>carol : 1/31/2000<br>terry : 1/31/2000<br>dkim : 11/13/1998<br>carol : 7/16/1998<br>terry : 7/15/1998<br>alopez : 3/28/1997<br>alopez : 3/25/1997<br>terry : 3/18/1997<br>carol : 3/15/1995<br>carol : 12/22/1992
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</span>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 148069
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</span>
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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KERATIN 17, TYPE I; KRT17
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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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<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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<h4>
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<span class="mim-font">
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K17<br />
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KA17<br />
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CYTOKERATIN 17; CK17
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: KRT17</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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 109433009;
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<strong>ICD10CM:</strong> L72.2;
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</span>
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</p>
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<div>
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<br />
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<div>
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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: 17q21.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:41,619,442-41,624,575 </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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</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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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
17q21.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Pachyonychia congenita 2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
167210
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Steatocystoma multiplex
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
184500
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Among the members of the cytokeratin subfamily of intermediate filament (IF) proteins, cytokeratin-17 is remarkable since it is normally expressed in the basal cells of complex epithelia but not in stratified or simple epithelia. Troyanovsky et al. (1992) isolated a cDNA clone encoding KRT17 from a HeLa cDNA library. The KRT17 gene encodes a polypeptide of 432 amino acids with a calculated molecular mass of 48,000 Da. Synthesis of cytokeratin-17 seems to be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial 'stem cell.' </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Troyanovsky et al. (1992) isolated a number of lambda-phage clones on chromosome 17 that covered 3 distinct, noncontiguous gene regions. Only one of these contained the functional KRT17 gene, which is located about 5 kb 5-prime upstream of the KRT16 gene (148067), whereas the other 2 contain unprocessed KRT17 pseudogenes. Each of these genes is part of the large keratin type I gene cluster on chromosome 17. The functional KRT17 gene differs from the pseudogenes by the extent of methylation of certain DNA sequences in the 5-prime upstream region. Using S1-nuclease protection assays and RNAs from several cell lines, Troyanovsky et al. (1992) identified a single transcriptional start point 26 nucleotides downstream from a TATA box element. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Troyanovsky et al. (1992) determined that the KRT17 gene is 5 kb long with 8 exons. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Kim et al. (2006) showed that keratin-17, an intermediate filament protein rapidly induced in wounded stratified epithelia, regulates cell growth through binding to the adaptor protein 14-3-3-sigma (601290). Mouse skin keratinocytes lacking keratin-17 show depressed protein translation and are of smaller size, correlating with decreased Akt/mTOR (164730/601231) signaling activity. Other signaling kinases have normal activity, pointing to the specificity of this defect. Two amino acid residues located in the N-terminal head domain of keratin-17 are required for the serum-dependent relocalization of 14-3-3-sigma from the nucleus to the cytoplasm, and for the concomitant stimulation of mTOR activity and cell growth. Kim et al. (2006) concluded that their findings revealed a new and unexpected role for the intermediate filament cytoskeleton in influencing cell growth and size by regulating protein synthesis. </p><p>In mice, Takeo et al. (2013) showed that nail stem cells (NSCs) reside in the proximal nail matrix and are defined by high expression of keratin-14 (148066), keratin-17, and KI67 (MKI67; 176741). The mechanisms governing NSC differentiation are coupled directly to their ability to orchestrate digit regeneration. Early nail progenitors undergo Wnt (see 164820)-dependent differentiation into the nail. After amputation, this Wnt activation is required for nail regeneration and also for attracting nerves that promote mesenchymal blastema growth, leading to the regeneration of the digit. Amputations proximal to the Wnt-active nail progenitors result in failure to regenerate the nail or digit. Nevertheless, beta-catenin (116806) stabilization in the NSC region induced their regeneration. Takeo et al. (2013) concluded that their results established a link between nail stem cell differentiation and digit regeneration, and suggested that NSCs may have the potential to contribute to the development of novel treatments for amputees. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>McLean et al. (1995) found a mutation in the KRT17 gene (148069.0001) in a large Scottish kindred in which pachyonychia congenita had been shown to be linked to markers that mapped within the type I keratin cluster on 17q (PC2; 167210) (Munro et al., 1994). </p><p>Smith et al. (1997) reported heterozygous KRT17 missense mutations in the same conserved protein motif in a further 5 families with PC, described as having the Jackson-Lawler type. They also showed heterozygous missense mutations in KRT17 in 2 families diagnosed with steatocystoma multiplex (see 148069.0004 and 148069.0005). On review, mild nail changes were observed in some, but not all, of these patients. Cysts in the steatocystoma families and the families with pachyonychia congenita of the Jackson-Lawler type were indistinguishable clinically and histologically. They concluded that phenotypic variation is observed with KRT17 mutations as is the case with other keratin disorders. </p><p>KRT17 is expressed in the nail bed, hair follicle, sebaceous glands, and other epidermal appendages. Covello et al. (1998) described 3 unrelated kindreds carrying KRT17 mutations. Two of these families had identical missense mutations (R94C; 148069.0006) in the 1A domain of KRT17. However, whereas affected members of 1 kindred had the classic features of Jackson-Lawler pachyonychia congenita, affected persons in the other family had the steatocystoma multiplex phenotype. In a third family with pachyonychia congenita, an N92S mutation (148069.0002) was detected. </p><p>In a mother and son of Caribbean origin with Jackson-Lawler pachyonychia congenita, Celebi et al. (1999) identified heterozygosity for a missense mutation in KRT17 (M88T; 148069.0007). </p><p>In 3 unrelated probands with PC2, Smith et al. (2001) identified heterozygosity for mutations in exon 1 of the KRT17 gene, including a 15-bp deletion in the proband from an Italian Caucasian family (148069.0008), which the authors noted was the first report of a deletion in KRT17. The other 2 probands had missense mutations, an R94P substitution in an Australian Caucasian female (148069.0009), and an L95Q substitution in a French Caucasian female (148069.0010). The authors observed that the deletion produced a similar clinical phenotype to that seen with missense mutations in KRT17. </p><p>In a cohort of 13 probands with clinically heterogeneous pachyonychia congenita, Terrinoni et al. (2001) screened for mutations in the K6A (148041), K16 (148067), and K17 genes, and identified 4 patients with heterozygous missense mutations in the K17 gene. Three of the patients carried novel mutations (148069.0011-148069.0013), and 1 patient had a mutation that had previously been reported in a family with steatocystoma multiplex (R94H; 148069.0005). </p><p>In a 19-year-old Japanese man with PC, Hashiguchi et al. (2002) directly sequenced the KRT17 gene and identified identified heterozygosity for a de novo missense mutation (V102M; 148069.0014). The variant was not found in his unaffected parents or in 50 Japanese controls. </p><p>In an affected father, daughter, and granddaughter from a large 5-generation Asian family with PC, Kanda et al. (2009) sequenced the KRT6B (148042) and KRT17 genes and identified heterozygosity for the previously reported L99P mutation in the KRT17 gene (148069.0013). The mutation was not found in 50 control individuals. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>K17-null mice develop alopecia in the first week after birth, correlating with hair shaft fragility and untimely apoptosis in the hair bulb (McGowan et al., 2002). Tong and Coulombe (2006) showed that this abnormal apoptosis reflected premature entry into catagen. K17-null skin keratinocytes in primary culture were more sensitive to Tnf (191160) than to other proapoptotic challenges. K17 interacted with Tradd (603500), a death adaptor essential for Tnf receptor-1 (TNFRSF1A; 191190)-dependent signal transduction, suggesting a functional link between K17 and TNF signaling. The activity of Nfkb (see 164011), a downstream target of Tnf, was increased in K17-null skin. Ablation of Tnf partly rescued the hair cycling defect of K17-null mice. </p><p>Gli2(tg) mice are transgenic mice that overexpress the hedgehog signaling protein Gli2 (165230) and develop basal cell carcinoma (BCC; see 605462) and basaloid follicular hamartoma. DePianto et al. (2010) found that expression of Krt17 was induced before the onset of lesions in the epidermis of Gli2(tg) mice. Deletion of Krt17 in Gli2(tg) mice reduced the inflammatory response and the frequency of mitotically active cells, and it resulted in better preservation of skin barrier function. Absence of Krt17 in Gli2(tg) Krt17 -/- skin correlated with reduction in T-helper-1 (Th1) proinflammatory and Th17 antimicrobial T cells and induction of Th2 antiinflammatory markers. Deletion of Krt17 also downregulated BCC-related matrix metalloproteases (e.g., MMP3; 185250) and normalized altered cytokine expression. Phorbol ester treatment enhanced proliferation of Gli2(tg) cells, but not Gli2(tg) Krt17 -/- cells. DePianto et al. (2010) concluded that KRT17 has a role in modulating the immune response in hedgehog-driven basaloid skin tumors. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>14 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 PACHYONYCHIA CONGENITA 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT17, ASN92ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928896,
|
|
|
|
|
|
|
|
ClinVar: RCV000015688, RCV000056510
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of the large 5-generation Scottish kindred with autosomal dominant pachyonychia congenita, mapped to chromosome 17q12-q21 by Munro et al. (1994) and described as the Jackson-Lawler type (PC2; 167210), McLean et al. (1995) found heterozygosity for an asn92-to-asp (N92D) missense mutation in the helix initiation motif of keratin-17. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 PACHYONYCHIA CONGENITA 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT17, ASN92SER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs59151893,
|
|
|
|
|
|
|
|
ClinVar: RCV000015689, RCV000056512, RCV001836709, RCV002496373
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family in which 5 individuals in 3 generations had pachyonychia congenita described as the Jackson-Lawler type (PC2; 167210), Smith et al. (1997) found an A-to-G transition in the KRT17 gene, producing a predicted asn92-to-ser (N92S) substitution. The identical mutation was found in 3 sporadic cases. The mutation created a new DdelI site. </p><p>In affected members of a 3-generation British Caucasian family with PC2, originally described by Todd et al. (1990) as having pachyonychia with hidradenitis suppurativa, Covello et al. (1998) identified heterozygosity for the N92S mutation in the KRT17 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 PACHYONYCHIA CONGENITA 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT17, TYR98ASP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28933088,
|
|
|
|
|
|
|
|
ClinVar: RCV000015690, RCV000056521
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family in which the father and 2 daughters had pachyonychia congenita described as the Jackson-Lawler type (PC2; 167210), Smith et al. (1997) identified a heterozygous 440T-G transversion in the KRT17 gene, producing a tyr98-to-asp (Y98D) substitution in affected individuals. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 STEATOCYSTOMA MULTIPLEX</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT17, ASN92HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928896,
|
|
|
|
|
|
|
|
ClinVar: RCV000015691, RCV000056509
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a mother and daughter with steatocystoma multiplex (184500), Smith et al. (1997) demonstrated heterozygosity for the transversion 422A-C in the KRT17 gene, which was predicted to produce an asn92-to-his (N92H) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 STEATOCYSTOMA MULTIPLEX</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
PACHYONYCHIA CONGENITA 2, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT17, ARG94HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28928897,
|
|
|
|
|
|
|
|
ClinVar: RCV000015692, RCV000056515, RCV000114414, RCV002496374
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a kindred in which 8 individuals in 3 generations had steatocystoma multiplex (184500), Smith et al. (1997) found heterozygosity for a purine transition, c.429G-A, causing a predicted arg94-to-his (R94H) substitution. The mutation occurred in residue 10 of the KRT17 helix initiation peptide and potentially was a CpG deamination mutation. Although originally diagnosed with steatocystoma multiplex, on restudy some but not all of the patients were found to have mild nail changes compatible with those of pachyonychia congenita (see PC2, 167210). </p><p>Terrinoni et al. (2001) reported this mutation in a patient with sporadic pachyonychia congenita (PC2). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 STEATOCYSTOMA MULTIPLEX</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
PACHYONYCHIA CONGENITA 2, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT17, ARG94CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs58730926,
|
|
|
|
|
|
gnomAD: rs58730926,
|
|
|
|
|
|
ClinVar: RCV000015694, RCV000056513, RCV000114415
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Covello et al. (1998) reported 2 unrelated kindreds with the identical missense mutation (arg94-to-cys; R94C) in the 1A domain of keratin-17. However, whereas the affected mother and son of the first kindred had the classic features of Jackson-Lawler pachyonychia congenita (PC2; 167210), the affected Dutch Caucasian mother, son, and daughter in the second family had the steatocystoma multiplex phenotype (184500) without any nail changes or other skin, hair, or mucosal abnormalities. </p>
|
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</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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<div>
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<div>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>.0007 PACHYONYCHIA CONGENITA 2</strong>
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|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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KRT17, MET88THR
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<br />
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SNP: rs28928898,
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ClinVar: RCV000015696, RCV000056508
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Celebi et al. (1999) described a mother and son of Caribbean origin with Jackson-Lawler pachyonychia congenita (PC; 167210) due to heterozygosity for a met88-to-thr mutation (M88T) resulting from an ATG-to-ACG change in the KRT17 gene. The mutation was not found in the proband's unaffected mother or in 50 unrelated controls; DNA was unavailable from her father. </p>
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</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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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 PACHYONYCHIA CONGENITA 2</strong>
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</span>
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</h4>
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|
</div>
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<div>
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<span class="mim-text-font">
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KRT17, 15-BP DEL, NT279
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<br />
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SNP: rs57674130,
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ClinVar: RCV000015697, RCV000056514
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In an Italian Caucasian family with Jackson-Lawler pachyonychia congenita (PC2; 167210) described by Clementi et al. (1986), Smith et al. (2001) reported a novel heterozygous 15-bp deletion in the KRT17 gene, 279del15. This was the first report of a deletion in KRT17 and led to removal of the amino acid sequence RLASY (R94-98del) from the highly conserved 1A domain of the KRT17 protein (deletion of 1A domain residues 10-14). </p>
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|
</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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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 PACHYONYCHIA CONGENITA 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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KRT17, ARG94PRO
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<br />
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SNP: rs28928897,
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ClinVar: RCV000015698, RCV000056516
|
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</span>
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|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In an Australian Caucasian female with sporadic Jackson-Lawler pachyonychia congenita (PC2; 167210), Smith et al. (2001) reported a novel heterozygous arg94-to-pro (R94P) mutation that arose from a 281G-C transversion in the KRT17 gene. This mutation occurred within the helix initiation 1A domain hotspot for pathogenic keratin mutations. </p>
|
|
</span>
|
|
</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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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 PACHYONYCHIA CONGENITA 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
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|
KRT17, LEU95GLN
|
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<br />
|
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SNP: rs28928899,
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ClinVar: RCV000015699, RCV000056517
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a French Caucasian female with sporadic Jackson-Lawler pachyonychia congenita (PC2; 167210), Smith et al. (2001) reported a novel heterozygous 284T-A transversion in the KRT17 gene, resulting in a leu95-to-gln (L95Q) amino acid substitution. This mutation occurred within the helix initiation 1A domain hotspot for pathogenic keratin mutations. </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 PACHYONYCHIA CONGENITA 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT17, LEU95PRO
|
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|
|
|
<br />
|
|
|
|
SNP: rs28928899,
|
|
|
|
|
|
|
|
ClinVar: RCV000015700, RCV000056518
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic pachyonychia congenita (PC2; 167210), Terrinoni et al. (2001) reported a leu95-to-pro (L95P) mutation in the 1A domain of the KRT17 protein, resulting from a 284T-C transition. This mutation may also be referred to as L11P. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 PACHYONYCHIA CONGENITA 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT17, SER97DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121912478,
|
|
|
|
|
|
|
|
ClinVar: RCV000015701, RCV000255904, RCV002494801
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with sporadic pachyonychia congenita (PC2; 167210), Terrinoni et al. (2001) reported a deletion of 3 nucleotides at position 289 of the KRT17 gene (289delCCT), predicting deletion of serine-97 (S97del) in the 1A domain. This mutation may also be referred to as S13del. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 PACHYONYCHIA CONGENITA 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT17, LEU99PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28933089,
|
|
|
|
|
|
|
|
ClinVar: RCV000015702, RCV000056523
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with pachyonychia congenita (PC2; 167210), Terrinoni et al. (2001) identified a leu99-to-pro (L99P) mutation in the 1A domain of the KRT17 protein, resulting from a c.296T-C transition. This mutation may also be referred to as L15P. </p><p>In an affected father, daughter, and granddaughter from a large 5-generation Asian family with pachyonychia congenita, Kanda et al. (2009) sequenced the KRT6B (148042) and KRT17 genes and identified heterozygosity for the previously reported L99P mutation in the KRT17 gene (148069.0013). The mutation was not found in 50 control individuals. Genetic analysis of cystic tissue from the proband and her father showed the L99P mutation in 1 allele, as seen in the family's peripheral blood. There was no evidence for loss of heterozygosity or second-hit mutations, and the authors concluded that the cysts in PC2 are benign, and their formation does not require a complete functional loss of keratin. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 PACHYONYCHIA CONGENITA 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
KRT17, VAL102MET
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs59977263,
|
|
|
|
|
|
|
|
ClinVar: RCV000015703, RCV000056524
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 19-year-old Japanese man with pachyonychia congenita (PC2; 167210), Hashiguchi et al. (2002) identified heterozygosity for a de novo 452G-A (GTG to ATG) transition in the KRT17 gene, resulting in a val102-to-met (V102M) substitution within the highly conserved helix initiation motif 1A domain. The mutation was not found in 50 Japanese controls. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Celebi, J. T., Tanzi, E. L., Yao, Y. J., Michael, E. J., Peacocke, M.
|
|
<strong>Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2.</strong>
|
|
J. Invest. Derm. 113: 848-850, 1999.
|
|
|
|
|
|
[PubMed: 10571744]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1523-1747.1999.00762.x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Clementi, M., Cardin de Stefani, E., Dei Rossi, C., Avventi, V., Tenconi, R.
|
|
<strong>Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome.</strong>
|
|
Brit. J. Derm. 114: 367-370, 1986.
|
|
|
|
|
|
[PubMed: 3954955]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2133.1986.tb02829.x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Covello, S. P., Smith, F. J. D., Sillevis Smitt, J. H., Paller, A. S., Munro, C. S., Jonkman, M. F., Uitto, J., McLean, W. H. I.
|
|
<strong>Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.</strong>
|
|
Brit. J. Derm. 139: 475-480, 1998.
|
|
|
|
|
|
[PubMed: 9767294]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1365-2133.1998.02413.x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
DePianto, D., Kerns, M. L., Dlugosz, A. A., Coulombe, P. A.
|
|
<strong>Keratin 17 promotes epithelial proliferation and tumor growth by polarizing the immune response in skin.</strong>
|
|
Nature Genet. 42: 910-914, 2010.
|
|
|
|
|
|
[PubMed: 20871598]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng.665]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hashiguchi, T., Yotsumoto, S., Shimada, H., Terasaki, K., Setoyama, M., Kobayashi, K., Saheki, T., Kanzaki, T.
|
|
<strong>A novel point mutation in the keratin 17 gene in a Japanese case of pachyonychia congenita type 2. (Letter)</strong>
|
|
J. Invest. Derm. 118: 545-547, 2002.
|
|
|
|
|
|
[PubMed: 11874497]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.0022-202x.2001.01701.x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kanda, M., Natsuga, K., Nishie, W., Akiyama, M., Nagasaki, A., Shimizu, T., Shimizu, H.
|
|
<strong>Morphological and genetic analysis of steatocystoma multiplex in an Asian family with pachyonychia congenita type 2 harbouring a KRT17 missense mutation.</strong>
|
|
Brit. J. Derm. 160: 465-468, 2009.
|
|
|
|
|
|
[PubMed: 19120334]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1365-2133.2008.08983.x]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kim, S., Wong, P., Coulombe, P. A.
|
|
<strong>A keratin cytoskeletal protein regulates protein synthesis and epithelial cell growth.</strong>
|
|
Nature 441: 362-365, 2006.
|
|
|
|
|
|
[PubMed: 16710422]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature04659]
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McGowan, K. M., Tong, X., Colucci-Guyon, E., Langa, F., Babinet, C., Coulombe, P. A.
|
|
<strong>Keratin 17 null mice exhibit age- and strain-dependent alopecia.</strong>
|
|
Genes Dev. 16: 1412-1422, 2002.
|
|
|
|
|
|
[PubMed: 12050118]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/gad.979502]
|
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|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., Navsaria, H. A., Leigh, I. M., Strachan, T., Kunkeler, L., Munro, C. S.
|
|
<strong>Keratin 16 and keratin 17 mutations cause pachyonychia congenita.</strong>
|
|
Nature Genet. 9: 273-278, 1995.
|
|
|
|
|
|
[PubMed: 7539673]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0395-273]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Munro, C. S., Carter, S., Bryce, S., Hall, M., Rees, J. L., Kunkeler, L., Stephenson, A., Strachan, T.
|
|
<strong>A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.</strong>
|
|
J. Med. Genet. 31: 675-678, 1994.
|
|
|
|
|
|
[PubMed: 7529318]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.31.9.675]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, F. J. D., Coleman, C. M., Bayoumy, N. M., Tenconi, R., Nelson, J., David, A., McLean, W. H. I.
|
|
<strong>Novel keratin 17 mutations in pachyonychia congenita type 2.</strong>
|
|
J. Invest. Derm. 116: 806-808, 2001.
|
|
|
|
|
|
[PubMed: 11348474]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1523-1747.2001.01335.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Smith, F. J. D., Corden, L. D., Rugg, E. L., Ratnavel, R., Leigh, I. M., Moss, C., Tidman, M. J., Hohl, D., Huber, M., Kunkeler, L., Munro, C. S., Lane, E. B., McLean, W. H. I.
|
|
<strong>Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.</strong>
|
|
J. Invest. Derm. 108: 220-223, 1997.
|
|
|
|
|
|
[PubMed: 9008238]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/1523-1747.ep12335315]
|
|
|
|
|
|
</p>
|
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</li>
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Takeo, M., Chou, W. C., Sun, Q., Lee, W., Rabbani, P., Loomis, C., Taketo, M. M., Ito, M.
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