3458 lines
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Entry
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- *165220 - GLI FAMILY ZINC FINGER 1; GLI1
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- OMIM
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<p>
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<span class="h4">*165220</span>
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<br />
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<strong>Table of Contents</strong>
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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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<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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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/165220">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<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=ENSG00000111087;t=ENST00000228682" 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=2735" 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=165220" 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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<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=ENSG00000111087;t=ENST00000228682" 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_001160045,NM_001167609,NM_005269,XM_011538189,XM_011538190" 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_005269" 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=165220" 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=01311&isoform_id=01311_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/GLI1" 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/31768,121323,4885279,15278121,20152843,119617419,172052579,194388502,229892345,260181513,263190680,538774570,538774574,767973851,767973853,2462531327,2462531329" 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/P08151" 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=2735" 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=ENSG00000111087;t=ENST00000228682" 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=GLI1" 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=GLI1" 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+2735" 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/GLI1" 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:2735" 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/2735" 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=chr12&hgg_gene=ENST00000228682.7&hgg_start=57459785&hgg_end=57472268&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=165220[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=165220[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/ENSG00000111087" 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=GLI1" 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=GLI1" 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=GLI1" 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=GLI1&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/PA28720" 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:4317" 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://flybase.org/reports/FBgn0004859.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:95727" 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/GLI1#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:95727" 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/2735/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=2735" 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=WBGene00006604;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><a href="https://zfin.org/ZDB-GENE-030321-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2735" 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=GLI1&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> 205135003<br />
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<strong>ICD10CM:</strong> Q69.1<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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165220
|
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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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GLI FAMILY ZINC FINGER 1; GLI1
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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">
|
|
<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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
GLIOMA-ASSOCIATED ONCOGENE HOMOLOG<br />
|
|
ONCOGENE GLI; GLI
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=GLI1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">GLI1</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/12/540?start=-3&limit=10&highlight=540">12q13.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:57459785-57472268&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'})">12:57,459,785-57,472,268</a> </span>
|
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</em>
|
|
</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>
|
|
<br />
|
|
</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>
|
|
</div>
|
|
<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=618123,174400" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
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|
</th>
|
|
<th>
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|
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">
|
|
<a href="/geneMap/12/540?start=-3&limit=10&highlight=540">
|
|
12q13.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Polydactyly, postaxial, type A8
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/618123"> 618123 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<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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|
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Polydactyly, preaxial I
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/174400"> 174400 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
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</tbody>
|
|
</table>
|
|
</div>
|
|
</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/165220" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/165220" 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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<p><a href="#8" class="mim-tip-reference" title="Kinzler, K. W., Bigner, S. H., Bigner, D. D., Trent, J. M., Law, M. L., O'Brien, S. J., Wong, A. J., Vogelstein, B. <strong>Identification of an amplified, highly expressed gene in a human glioma.</strong> Science 236: 70-73, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3563490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3563490</a>] [<a href="https://doi.org/10.1126/science.3563490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3563490">Kinzler et al. (1987)</a> identified a gene, which they called glioma-associated oncogene (GLI), that is amplified more than 50-fold in a malignant glioma. The gene was expressed at high levels in the original tumor and its derived cell line. <a href="#9" class="mim-tip-reference" title="Kinzler, K. W., Ruppert, J. M., Bigner, S. H., Vogelstein, B. <strong>The GLI gene is a member of the Kruppel family of zinc finger proteins.</strong> Nature 332: 371-374, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2832761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2832761</a>] [<a href="https://doi.org/10.1038/332371a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2832761">Kinzler et al. (1988)</a> extended this work by cloning the GLI complementary DNA. Analysis of the nucleotide sequence demonstrated that the gene contains 5 repeats of the DNA-binding consensus sequence (zinc finger). The zinc fingers contain sequence elements that place the GLI gene product among the Kruppel (Kr) family of zinc finger proteins (see <a href="/entry/165230">165230</a>). (The German word 'Kruppel' means 'cripple' or 'dwarf.') The Drosophila gene is a member of the gap class of segmentation genes; thoracic and anterior abdominal segments fail to form in Kr mutant embryos. Kr encodes a chromatin-associated phosphoprotein that contains 5 zinc fingers with a consensus sequence connecting the histidine of 1 finger to the cysteine of the next. Conservation of the contiguous stretch of nucleotides encoding this H-C link allowed cloning of Kruppel-related genes from D. melanogaster, mouse, and frog, by hybridization with Kr cDNA at low stringency. Each of these Kr family members were shown to be expressed in embryonic cells, suggesting a role for them in normal development. Northern analysis revealed that GLI is expressed in embryonal carcinoma cells but not in most adult tissue. A fragile site of the folic acid type has been described at 12q13. In addition, translocations involving this region of chromosome 12 have been described in myxoid liposarcoma (<a href="/entry/151900">151900</a>) and salivary gland tumors. Southern blot analysis with probes for INT1 (<a href="/entry/164820">164820</a>) and IGF1 (<a href="/entry/147440">147440</a>), both of which are located on chromosome 12, showed that these genes are not amplified in the malignant glioma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2832761+3563490" 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="#8" class="mim-tip-reference" title="Kinzler, K. W., Bigner, S. H., Bigner, D. D., Trent, J. M., Law, M. L., O'Brien, S. J., Wong, A. J., Vogelstein, B. <strong>Identification of an amplified, highly expressed gene in a human glioma.</strong> Science 236: 70-73, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3563490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3563490</a>] [<a href="https://doi.org/10.1126/science.3563490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3563490">Kinzler et al. (1987)</a> localized the GLI gene to 12q13-q14.3 by Southern blot analysis of hybrid cell DNA and by in situ hybridization. By in situ hybridization, <a href="#2" class="mim-tip-reference" title="Arheden, K., Ronne, M., Mandahl, N., Heim, S., Kinzler, K. W., Vogelstein, B., Mitelman, F. <strong>In situ hybridization localizes the human putative oncogene GLI to chromosome subbands 12q13.3-14.1.</strong> Hum. Genet. 82: 1-2, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2497059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2497059</a>] [<a href="https://doi.org/10.1007/BF00288260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2497059">Arheden et al. (1989)</a> localized the GLI1 gene to 12q13.3-q14.1. By in situ hybridization, <a href="#5" class="mim-tip-reference" title="Dal Cin, P., Turc-Carel, C., Sandberg, A. A., Van den Berghe, H. <strong>More precise localization of GLI gene by in situ hybridization. (Abstract)</strong> Cytogenet. Cell Genet. 51: 982-983, 1989."None>Dal Cin et al. (1989)</a> narrowed the assignment of GLI1 to the distal part of band 12q13 (12q13.2 or 12q13.3). The corresponding gene is located on mouse chromosome 10 (<a href="#7" class="mim-tip-reference" title="Justice, M. J., Siracusa, L. D., Gilbert, D. J., Heisterkamp, N., Groffen, J., Chada, K., Silan, C. M., Copeland, N. G., Jenkins, N. A. <strong>A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross.</strong> Genetics 125: 855-866, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975791</a>] [<a href="https://doi.org/10.1093/genetics/125.4.855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1975791">Justice et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1975791+3563490+2497059" 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="#4" class="mim-tip-reference" title="Chung, R. Y., Seizinger, B. R. <strong>Molecular genetics of neurological tumours.</strong> J. Med. Genet. 29: 361-367, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1320124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1320124</a>] [<a href="https://doi.org/10.1136/jmg.29.6.361" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1320124">Chung and Seizinger (1992)</a> reviewed the molecular genetics of neurologic tumors, including the role of the GLI oncogene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1320124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using confocal microscopy, immunoprecipitation, and luciferase reporter analysis, <a href="#10" class="mim-tip-reference" title="Kogerman, P., Grimm, T., Kogerman, L., Krause, D., Unden, A. B., Sandstedt, B., Toftgard, R., Zaphiropoulos, P. G. <strong>Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of GLI-1.</strong> Nature Cell Biol. 1: 312-319, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10559945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10559945</a>] [<a href="https://doi.org/10.1038/13031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10559945">Kogerman et al. (1999)</a> demonstrated that a centrally located leucine-rich CRM1 (<a href="/entry/602559">602559</a>)-dependent nuclear export signal causes the 1,106-amino acid GLI1 protein to be retained in the cytoplasm, where it is colocalized with SUFU (<a href="/entry/607035">607035</a>). SUFU inhibits the transcriptional activity of GLI1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10559945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Ahn, S., Joyner, A. L. <strong>In vivo analysis of quiescent adult neural stem cells responding to Sonic hedgehog.</strong> Nature 437: 894-897, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16208373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16208373</a>] [<a href="https://doi.org/10.1038/nature03994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16208373">Ahn and Joyner (2005)</a> adopted an in vivo genetic fate-mapping strategy using Gli1 as a sensitive readout of Sonic hedgehog (Shh; <a href="/entry/600725">600725</a>) activity to systematically mark and follow the fate of Shh-responding cells in the adult mouse forebrain. They showed that initially, only a small population of cells (including both quiescent neural stem cells and transit-amplifying cells) responds to Shh in regions undergoing neurogenesis. This population subsequently expands markedly to continuously provide new neurons in the forebrain. <a href="#1" class="mim-tip-reference" title="Ahn, S., Joyner, A. L. <strong>In vivo analysis of quiescent adult neural stem cells responding to Sonic hedgehog.</strong> Nature 437: 894-897, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16208373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16208373</a>] [<a href="https://doi.org/10.1038/nature03994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16208373">Ahn and Joyner (2005)</a> concluded that their study of the behavior of quiescent neural stem cells provides in vivo evidence that they can self-renew for over a year and generate multiple cell types. Furthermore, <a href="#1" class="mim-tip-reference" title="Ahn, S., Joyner, A. L. <strong>In vivo analysis of quiescent adult neural stem cells responding to Sonic hedgehog.</strong> Nature 437: 894-897, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16208373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16208373</a>] [<a href="https://doi.org/10.1038/nature03994" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16208373">Ahn and Joyner (2005)</a> showed that the neural stem cell niches in the subventricular zone and dentate gyrus are established sequentially and not until late embryonic stages. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16208373" 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>Basal cell carcinoma (<a href="/entry/604451">604451</a>) is the most prevalent cancer in the Western world and it is showing a rapid increase in incidence. Activation of the SHH/Patched (PTCH; <a href="/entry/601309">601309</a>) signaling pathway because of PTCH1 inactivation is a key event in sporadic and familial basal cell carcinoma development and is associated with transcriptional activation of several target genes, including PTCH1 itself. These changes are analogous to the situation in Drosophila where hedgehog activates the zinc finger transcription factor Cubitus interruptus, leading to increased transcription of target genes. <a href="#12" class="mim-tip-reference" title="Nilsson, M., Unden, A. B., Krause, D., Malmqwist, U., Raza, K., Zaphiropoulos, P. G., Toftgard, R. <strong>Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1.</strong> Proc. Nat. Acad. Sci. 97: 3438-3443, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10725363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10725363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10725363[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.97.7.3438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10725363">Nilsson et al. (2000)</a> showed that mice ectopically expressing the human Cubitus interruptus homolog GLI1 in the skin developed tumors closely resembling human basal cell carcinomas as well as other hair follicle-derived neoplasias, such as trichoepitheliomas (<a href="/entry/601606">601606</a>), cylindromas (<a href="/entry/132700">132700</a>), and trichoblastomas. Examination of the tumors revealed wildtype p53 (<a href="/entry/191170">191170</a>) and HRAS (<a href="/entry/190020">190020</a>) genes. These findings firmly established that increased GLI1 expression is central and probably sufficient for tumor development and suggested that GLI1-induced tumor development does not depend on additional p53 or HRAS mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10725363" 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="Peng, T., Tian, Y., Boogerd, C. J., Lu, M. M., Kadzik, R. S., Stewart, K. M., Evans, S. M., Morrisey, E. E. <strong>Coordination of heart and lung co-development by a multipotent cardiopulmonary progenitor.</strong> Nature 500: 589-592, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23873040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23873040</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23873040[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/nature12358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23873040">Peng et al. (2013)</a> identified a population of multipotent cardiopulmonary mesoderm progenitors (CPPs) within the posterior pole of the heart that are marked by the expression of Wnt2 (<a href="/entry/147870">147870</a>), Gli1, and Isl1 (<a href="/entry/600366">600366</a>). <a href="#14" class="mim-tip-reference" title="Peng, T., Tian, Y., Boogerd, C. J., Lu, M. M., Kadzik, R. S., Stewart, K. M., Evans, S. M., Morrisey, E. E. <strong>Coordination of heart and lung co-development by a multipotent cardiopulmonary progenitor.</strong> Nature 500: 589-592, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23873040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23873040</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23873040[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/nature12358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23873040">Peng et al. (2013)</a> showed that CPPs arise from cardiac progenitors before lung development. Lineage tracing and clonal analysis demonstrates that CPPs generate the mesoderm lineages within the cardiac inflow tract and lung, including cardiomyocytes, pulmonary vascular and airway smooth muscle, proximal vascular endothelium, and pericyte-like cells. CPPs are regulated by hedgehog expression from the foregut endoderm, which is required for connection of the pulmonary vasculature to the heart. <a href="#14" class="mim-tip-reference" title="Peng, T., Tian, Y., Boogerd, C. J., Lu, M. M., Kadzik, R. S., Stewart, K. M., Evans, S. M., Morrisey, E. E. <strong>Coordination of heart and lung co-development by a multipotent cardiopulmonary progenitor.</strong> Nature 500: 589-592, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23873040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23873040</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23873040[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/nature12358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23873040">Peng et al. (2013)</a> concluded that taken together, their studies identified a novel population of multipotent cardiopulmonary progenitors that coordinates heart and lung codevelopment that is required for adaptation to terrestrial existence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23873040" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Zahreddine, H. A., Culjkovic-Kraljacic, B., Assouline, S., Gendron, P., Romeo, A. A., Morris, S. J., Cormack, G., Jaquith, J. B., Cerchietti, L., Cocolakis, E., Amri, A., Bergeron, J., Leber, B., Becker, M. W., Pei, S., Jordan, C. T., Miller, W. H., Jr., Borden, K. L. B. <strong>The sonic hedgehog factor GLI1 imparts drug resistance through inducible glucuronidation.</strong> Nature 511: 90-93, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24870236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24870236</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24870236[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/nature13283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24870236">Zahreddine et al. (2014)</a> identified a novel form of drug resistance to ribavirin and Ara-C, and observed that the GLI1 and UGT1A (see <a href="/entry/191740">191740</a>) families of enzymes are elevated in resistant cells. UGT1As add glucuronic acid to many drugs, modifying their activity in diverse tissues. GLI1 alone is sufficient to drive UGT1A-dependent glucuronidation of ribavirin and Ara-C, and thus drug resistance. Resistance is overcome by genetic or pharmacologic inhibition of GLI1, revealing a potential strategy to overcome drug resistance in some patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24870236" 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="#16" class="mim-tip-reference" title="Samanta, J., Grund, E. M., Silva, H. M., Lafaille, J. J., Fishell, G., Salzer, J. L. <strong>Inhibition of Gli1 mobilizes endogenous neural stem cells for remyelination.</strong> Nature 526: 448-452, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26416758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26416758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26416758[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/nature14957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26416758">Samanta et al. (2015)</a> characterized the contribution to remyelination of a subset of adult neural stem cells, identified by their expression of Gli1. <a href="#16" class="mim-tip-reference" title="Samanta, J., Grund, E. M., Silva, H. M., Lafaille, J. J., Fishell, G., Salzer, J. L. <strong>Inhibition of Gli1 mobilizes endogenous neural stem cells for remyelination.</strong> Nature 526: 448-452, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26416758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26416758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26416758[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/nature14957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26416758">Samanta et al. (2015)</a> showed that these cells are recruited from the subventricular zone to populate demyelinated lesions in the forebrain but never enter healthy white matter tracts. Unexpectedly, recruitment of this pool of neural stem cells, and their differentiation into oligodendrocytes, is significantly enhanced by genetic or pharmacologic inhibition of Gli1. Importantly, complete inhibition of canonical hedgehog signaling (see SHH, <a href="/entry/600725">600725</a>) was ineffective, indicating that the role of Gli1 both in augmenting hedgehog signaling and in retarding myelination is specialized. <a href="#16" class="mim-tip-reference" title="Samanta, J., Grund, E. M., Silva, H. M., Lafaille, J. J., Fishell, G., Salzer, J. L. <strong>Inhibition of Gli1 mobilizes endogenous neural stem cells for remyelination.</strong> Nature 526: 448-452, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26416758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26416758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26416758[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/nature14957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26416758">Samanta et al. (2015)</a> found that inhibition of Gli1 improves the functional outcome in a relapsing/remitting model of experimental autoimmune encephalomyelitis and is neuroprotective. The authors suggested that endogenous neural stem cells can be mobilized for the repair of demyelinated lesions by inhibiting Gli1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26416758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Degirmenci, B., Valenta, T., Dimitrieva, S., Hausmann, G., Basler, K. <strong>GLI1-expressing mesenchymal cells form the essential Wnt-secreting niche for colon stem cells.</strong> Nature 558: 449-453, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29875413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29875413</a>] [<a href="https://doi.org/10.1038/s41586-018-0190-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29875413">Degirmenci et al. (2018)</a> showed that subepithelial mesenchymal GLI1-expressing cells constitute the Wnt-producing stem cell niche in the colon, required to maintain epithelial homeostasis. Blocking Wnt secretion from GLI1-expressing cells prevents colonic stem cell renewal in mice: the stem cells are lost and, as a consequence, the integrity of the colonic epithelium is corrupted, leading to death. GLI1-expressing cells also play an important role in the maintenance of the small intestine, where they serve as a reserve Wnt source that becomes critical when Wnt secretion from epithelial cells is prevented. <a href="#6" class="mim-tip-reference" title="Degirmenci, B., Valenta, T., Dimitrieva, S., Hausmann, G., Basler, K. <strong>GLI1-expressing mesenchymal cells form the essential Wnt-secreting niche for colon stem cells.</strong> Nature 558: 449-453, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29875413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29875413</a>] [<a href="https://doi.org/10.1038/s41586-018-0190-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29875413">Degirmenci et al. (2018)</a> suggested a mechanism by which the stem cell niche is adjusted to meet the needs of the intestine via adaptive changes in the number of mesenchymal GLI1-expressing cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29875413" 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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In 8 patients from 3 unrelated families with postaxial polydactyly of the hands and/or feet (PAPA8; <a href="/entry/618123">618123</a>), <a href="#13" class="mim-tip-reference" title="Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L. <strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong> Hum. Molec. Genet. 26: 4556-4571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973407</a>] [<a href="https://doi.org/10.1093/hmg/ddx335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973407">Palencia-Campos et al. (2017)</a> identified homozygosity for nonsense mutations in the GLI1 gene (<a href="#0001">165220.0001</a>-<a href="#0003">165220.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Preaxial Polydactyly I</em></strong></p><p>
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In a consanguineous Pakistani family in which 2 cousins exhibited bilateral preaxial polydactyly of the hands (PPD1; <a href="/entry/174400">174400</a>), <a href="#17" class="mim-tip-reference" title="Ullah, A., Umair, M., Majeed, A. I., Abdullah, Jan, A., Ahmad, W. <strong>A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.</strong> Clin. Genet. 95: 540-541, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30620395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30620395</a>] [<a href="https://doi.org/10.1111/cge.13495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30620395">Ullah et al. (2019)</a> identified homozygosity for a missense mutation in the GLI1 gene (L506Q; <a href="#0004">165220.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30620395" 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>The secreted glycoprotein Sonic hedgehog (SHH) is thought to act as an endodermal signal that controls hindgut patterning and lung growth. In mice, 3 zinc finger transcription factors, Gli1, Gli2, and Gli3, have been implicated in the transduction of Shh signal. <a href="#11" class="mim-tip-reference" title="Motoyama, J., Liu, J., Mo, R., Ding, Q., Post, M., Hui, C. <strong>Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus.</strong> Nature Genet. 20: 54-57, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731531</a>] [<a href="https://doi.org/10.1038/1711" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9731531">Motoyama et al. (1998)</a> found that mutant mice lacking Gli2 function exhibit foregut defects, including stenosis of the esophagus and trachea, as well as hypoplasia and lobulation defects of the lung. A reduction of 50% in the gene dosage of Gli3 (<a href="/entry/165240">165240</a>) in a Gli2-/- background resulted in esophageal atresia with tracheoesophageal fistula and a severe disruption of lung development. Mutant mice lacking both Gli2 and Gli3 function did not form esophagus, trachea, or lung. These results indicated that Gli2 and Gli3 possess specific and overlapping functions in Shh signaling during foregut development, and suggested that mutations in GLI genes may be involved in human foregut malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731531" 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">rs1309855392 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1309855392;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=rs1309855392" 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=rs1309855392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 affected individuals (patients 1 and 2) from a large multiply consanguineous Turkish pedigree with postaxial polydactyly of the hands and/or feet (PAPA8; <a href="/entry/618123">618123</a>), <a href="#13" class="mim-tip-reference" title="Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L. <strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong> Hum. Molec. Genet. 26: 4556-4571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973407</a>] [<a href="https://doi.org/10.1093/hmg/ddx335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973407">Palencia-Campos et al. (2017)</a> identified homozygosity for a c.2340G-A transition (c.2340G-A, NM_005269.2) in the last exon of the GLI1 gene, resulting in a trp780-to-ter (W780X) substitution and a protein lacking the transactivation domain. The proband had hexadactyly of the hands and feet, whereas the affected distant relative had hexadactyly only of the hands. Another distant relative with hand involvement (patient 3) was heterozygous for the mutation, which he inherited from his unaffected mother, and an older relative with a history of hand involvement that was surgically corrected in infancy did not carry the mutation. The authors suggested that patient 3 might carry hypomorphic variants in another gene, or that mutation in a different gene might be responsible for the phenotype in patients 3 and 4. Functional analysis in cell cultures and in vivo assays revealed severely impaired transcriptional activity of the W780X mutant compared to wildtype. In addition, reduced expression of the GLI1 target PTCH1 (<a href="/entry/601309">601309</a>) was observed in patient fibroblasts after chemical induction of the hedgehog (see <a href="/entry/600725">600725</a>) pathway. The variant was not found in dbSNP, ExAC, EVS, gnomAD, 1000 Genomes Project, or Kaviar databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973407" 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 2 brothers (patients 5 and 6) from a consanguineous Turkish family with postaxial polydactyly of the hands and feet (PAPA8; <a href="/entry/618123">618123</a>), <a href="#13" class="mim-tip-reference" title="Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L. <strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong> Hum. Molec. Genet. 26: 4556-4571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973407</a>] [<a href="https://doi.org/10.1093/hmg/ddx335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973407">Palencia-Campos et al. (2017)</a> identified homozygosity for a c.1930C-T transition (c.1930C-T, NM_005269.2) in the last exon of the GLI1 gene, resulting in a gln644-to-ter (Q644X) substitution and a protein lacking the transactivation domain. The mutation was present in heterozygosity in 2 more brothers, 1 who exhibited postminimi polydactyly of the left hand and 1 who was unaffected, and another brother without polydactyly did not carry the mutation. The variant was not found in dbSNP, ExAC, EVS, gnomAD, 1000 Genomes Project, or Kaviar databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 POLYDACTYLY, POSTAXIAL, TYPE A8</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs748321474 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs748321474;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/rs748321474?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=rs748321474" 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=rs748321474" 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=RCV000680279" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000680279" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000680279</a>
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<p>In 4 affected individuals from 2 sibships of a consanguineous Pakistani pedigree (patients 7 to 10) with postaxial polydactyly of the feet (PAPA8; <a href="/entry/618123">618123</a>), 1 of whom also had postaxial polydactyly of the left hand, <a href="#13" class="mim-tip-reference" title="Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L. <strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong> Hum. Molec. Genet. 26: 4556-4571, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973407</a>] [<a href="https://doi.org/10.1093/hmg/ddx335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28973407">Palencia-Campos et al. (2017)</a> identified homozygosity for a c.337C-T transition (c.337C-T, NM_005269.2) in exon 3 of the GLI1 gene, resulting in an arg113-to-ter (R113X) substitution, predicted to be subject to nonsense-mediated decay. The unaffected parents and an unaffected sib were heterozygous for the mutation. The variant was found in 1 of 246,242 alleles in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 POLYDACTYLY, PREAXIAL I (1 family)</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs753690500 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs753690500;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/rs753690500?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=rs753690500" 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=rs753690500" 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=RCV000770752 OR RCV004817987" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000770752, RCV004817987" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000770752...</a>
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<p>In a consanguineous Pakistani family in which 2 cousins exhibited bilateral preaxial polydactyly of the hands (PPD1; <a href="/entry/174400">174400</a>), <a href="#17" class="mim-tip-reference" title="Ullah, A., Umair, M., Majeed, A. I., Abdullah, Jan, A., Ahmad, W. <strong>A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.</strong> Clin. Genet. 95: 540-541, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30620395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30620395</a>] [<a href="https://doi.org/10.1111/cge.13495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30620395">Ullah et al. (2019)</a> identified homozygosity for a c.1517T-A transition in the GLI1 gene, resulting in a leu506-to-gln (L506Q) substitution at a highly conserved residue. The mutation segregated fully with disease in the family and was not found in 70 unrelated Pakistani controls, but was present in heterozygosity at low frequency in the gnomAD database (allele frequency, 0.0002109). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30620395" 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="seeAlso" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>See Also:</strong>
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<a href="#Bigner1988" class="mim-tip-reference" title="Bigner, S. H., Mark, J., Burger, P. C., Mahaley, M. S., Jr., Bullard, D. E., Muhlbaier, L. H., Bigner, D. D. <strong>Specific chromosomal abnormalities in malignant human gliomas.</strong> Cancer Res. 48: 405-411, 1988.">Bigner et al. (1988)</a>; <a href="#Ruppert1988" class="mim-tip-reference" title="Ruppert, J. M., Kinzler, K. W., Wong, A. J., Bigner, S. H., Kao, F.-T., Law, M. L., Seuanez, H. N., O'Brien, S. J., Vogelstein, B. <strong>The GLI-Kruppel family of human genes.</strong> Molec. Cell. Biol. 8: 3104-3113, 1988.">Ruppert et al. (1988)</a>
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Ahn, S., Joyner, A. L.
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<strong>In vivo analysis of quiescent adult neural stem cells responding to Sonic hedgehog.</strong>
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Nature 437: 894-897, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16208373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16208373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16208373" 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/nature03994" target="_blank">Full Text</a>]
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Arheden, K., Ronne, M., Mandahl, N., Heim, S., Kinzler, K. W., Vogelstein, B., Mitelman, F.
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<strong>In situ hybridization localizes the human putative oncogene GLI to chromosome subbands 12q13.3-14.1.</strong>
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Hum. Genet. 82: 1-2, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2497059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2497059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2497059" 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/10.1007/BF00288260" target="_blank">Full Text</a>]
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Bigner, S. H., Mark, J., Burger, P. C., Mahaley, M. S., Jr., Bullard, D. E., Muhlbaier, L. H., Bigner, D. D.
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<strong>Specific chromosomal abnormalities in malignant human gliomas.</strong>
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Cancer Res. 48: 405-411, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3335011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3335011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3335011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Chung, R. Y., Seizinger, B. R.
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<strong>Molecular genetics of neurological tumours.</strong>
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J. Med. Genet. 29: 361-367, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1320124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1320124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1320124" 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.29.6.361" target="_blank">Full Text</a>]
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Dal Cin, P., Turc-Carel, C., Sandberg, A. A., Van den Berghe, H.
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<strong>More precise localization of GLI gene by in situ hybridization. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 982-983, 1989.
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Degirmenci, B., Valenta, T., Dimitrieva, S., Hausmann, G., Basler, K.
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<strong>GLI1-expressing mesenchymal cells form the essential Wnt-secreting niche for colon stem cells.</strong>
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Nature 558: 449-453, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29875413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29875413</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29875413" 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/s41586-018-0190-3" target="_blank">Full Text</a>]
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Justice, M. J., Siracusa, L. D., Gilbert, D. J., Heisterkamp, N., Groffen, J., Chada, K., Silan, C. M., Copeland, N. G., Jenkins, N. A.
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<strong>A genetic linkage map of mouse chromosome 10: localization of eighteen molecular markers using a single interspecific backcross.</strong>
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Genetics 125: 855-866, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1975791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1975791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1975791" 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/10.1093/genetics/125.4.855" target="_blank">Full Text</a>]
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<a id="Kinzler1987" class="mim-anchor"></a>
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Kinzler, K. W., Bigner, S. H., Bigner, D. D., Trent, J. M., Law, M. L., O'Brien, S. J., Wong, A. J., Vogelstein, B.
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<strong>Identification of an amplified, highly expressed gene in a human glioma.</strong>
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Science 236: 70-73, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3563490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3563490</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3563490" 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/10.1126/science.3563490" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Kinzler1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kinzler, K. W., Ruppert, J. M., Bigner, S. H., Vogelstein, B.
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<strong>The GLI gene is a member of the Kruppel family of zinc finger proteins.</strong>
|
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Nature 332: 371-374, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2832761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2832761</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2832761" 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/10.1038/332371a0" target="_blank">Full Text</a>]
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</p>
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<a id="10" class="mim-anchor"></a>
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<a id="Kogerman1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Kogerman, P., Grimm, T., Kogerman, L., Krause, D., Unden, A. B., Sandstedt, B., Toftgard, R., Zaphiropoulos, P. G.
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<strong>Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of GLI-1.</strong>
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Nature Cell Biol. 1: 312-319, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10559945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10559945</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10559945" 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/10.1038/13031" 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="Motoyama1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Motoyama, J., Liu, J., Mo, R., Ding, Q., Post, M., Hui, C.
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<strong>Essential function of Gli2 and Gli3 in the formation of lung, trachea and oesophagus.</strong>
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Nature Genet. 20: 54-57, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9731531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9731531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9731531" 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/10.1038/1711" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Nilsson2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nilsson, M., Unden, A. B., Krause, D., Malmqwist, U., Raza, K., Zaphiropoulos, P. G., Toftgard, R.
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<strong>Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1.</strong>
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Proc. Nat. Acad. Sci. 97: 3438-3443, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10725363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10725363</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10725363[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=10725363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.97.7.3438" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Palencia-Campos2017" class="mim-anchor"></a>
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<div class="">
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Palencia-Campos, A., Ullah, A., Nevado, J., Yildirim, R., Unal, E., Ciorraga, M., Barruz, P., Chico, L., Piceci-Sparascio, F., Guida, V., De Luca, A., Kayserili, H., Ullah, I., Burmeister, M., Lapunzina, P., Ahmad, W., Morales, A. V., Ruiz-Perez, V. L.
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<strong>GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.</strong>
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Hum. Molec. Genet. 26: 4556-4571, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28973407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28973407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28973407" 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/10.1093/hmg/ddx335" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Peng2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Peng, T., Tian, Y., Boogerd, C. J., Lu, M. M., Kadzik, R. S., Stewart, K. M., Evans, S. M., Morrisey, E. E.
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<strong>Coordination of heart and lung co-development by a multipotent cardiopulmonary progenitor.</strong>
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Nature 500: 589-592, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23873040/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23873040</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23873040[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=23873040" 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/nature12358" target="_blank">Full Text</a>]
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Ruppert1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ruppert, J. M., Kinzler, K. W., Wong, A. J., Bigner, S. H., Kao, F.-T., Law, M. L., Seuanez, H. N., O'Brien, S. J., Vogelstein, B.
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<strong>The GLI-Kruppel family of human genes.</strong>
|
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Molec. Cell. Biol. 8: 3104-3113, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2850480/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2850480</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2850480" 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/10.1128/mcb.8.8.3104-3113.1988" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Samanta2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Samanta, J., Grund, E. M., Silva, H. M., Lafaille, J. J., Fishell, G., Salzer, J. L.
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<strong>Inhibition of Gli1 mobilizes endogenous neural stem cells for remyelination.</strong>
|
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Nature 526: 448-452, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26416758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26416758</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26416758[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=26416758" 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/nature14957" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Ullah2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ullah, A., Umair, M., Majeed, A. I., Abdullah, Jan, A., Ahmad, W.
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<strong>A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.</strong>
|
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Clin. Genet. 95: 540-541, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30620395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30620395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30620395" 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/cge.13495" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Zahreddine2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zahreddine, H. A., Culjkovic-Kraljacic, B., Assouline, S., Gendron, P., Romeo, A. A., Morris, S. J., Cormack, G., Jaquith, J. B., Cerchietti, L., Cocolakis, E., Amri, A., Bergeron, J., Leber, B., Becker, M. W., Pei, S., Jordan, C. T., Miller, W. H., Jr., Borden, K. L. B.
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<strong>The sonic hedgehog factor GLI1 imparts drug resistance through inducible glucuronidation.</strong>
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Nature 511: 90-93, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24870236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24870236</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24870236[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=24870236" 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/nature13283" target="_blank">Full Text</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </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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Marla J. F. O'Neill - updated : 05/02/2019
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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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Marla J. F. O'Neill - updated : 09/17/2018<br>Ada Hamosh - updated : 07/26/2018<br>Ada Hamosh - updated : 11/23/2015<br>Ada Hamosh - updated : 8/6/2014<br>Ada Hamosh - updated : 10/1/2013<br>Ada Hamosh - updated : 11/2/2005<br>Paul J. Converse - updated : 6/13/2002<br>Victor A. McKusick - updated : 4/20/2000<br>Victor A. McKusick - updated : 8/28/1998
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 9/14/1988
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alopez : 05/04/2021
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 09/06/2019<br>alopez : 05/02/2019<br>carol : 09/18/2018<br>carol : 09/17/2018<br>alopez : 07/26/2018<br>carol : 01/31/2016<br>alopez : 11/23/2015<br>alopez : 8/6/2014<br>alopez : 10/1/2013<br>terry : 10/8/2008<br>alopez : 11/2/2005<br>terry : 11/2/2005<br>carol : 6/13/2002<br>mcapotos : 5/11/2000<br>mcapotos : 5/5/2000<br>terry : 4/20/2000<br>alopez : 8/31/1998<br>terry : 8/28/1998<br>terry : 8/28/1998<br>mark : 9/15/1996<br>carol : 12/23/1992<br>carol : 6/30/1992<br>supermim : 3/16/1992<br>carol : 3/8/1992<br>carol : 10/1/1991<br>carol : 8/5/1991
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<strong>*</strong> 165220
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<h3>
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<span class="mim-font">
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GLI FAMILY ZINC FINGER 1; GLI1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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GLIOMA-ASSOCIATED ONCOGENE HOMOLOG<br />
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ONCOGENE GLI; GLI
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: GLI1</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 205135003;
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<strong>ICD10CM:</strong> Q69.1;
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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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<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: 12q13.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:57,459,785-57,472,268 </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">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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12q13.3
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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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Polydactyly, postaxial, type A8
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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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618123
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Polydactyly, preaxial I
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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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174400
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kinzler et al. (1987) identified a gene, which they called glioma-associated oncogene (GLI), that is amplified more than 50-fold in a malignant glioma. The gene was expressed at high levels in the original tumor and its derived cell line. Kinzler et al. (1988) extended this work by cloning the GLI complementary DNA. Analysis of the nucleotide sequence demonstrated that the gene contains 5 repeats of the DNA-binding consensus sequence (zinc finger). The zinc fingers contain sequence elements that place the GLI gene product among the Kruppel (Kr) family of zinc finger proteins (see 165230). (The German word 'Kruppel' means 'cripple' or 'dwarf.') The Drosophila gene is a member of the gap class of segmentation genes; thoracic and anterior abdominal segments fail to form in Kr mutant embryos. Kr encodes a chromatin-associated phosphoprotein that contains 5 zinc fingers with a consensus sequence connecting the histidine of 1 finger to the cysteine of the next. Conservation of the contiguous stretch of nucleotides encoding this H-C link allowed cloning of Kruppel-related genes from D. melanogaster, mouse, and frog, by hybridization with Kr cDNA at low stringency. Each of these Kr family members were shown to be expressed in embryonic cells, suggesting a role for them in normal development. Northern analysis revealed that GLI is expressed in embryonal carcinoma cells but not in most adult tissue. A fragile site of the folic acid type has been described at 12q13. In addition, translocations involving this region of chromosome 12 have been described in myxoid liposarcoma (151900) and salivary gland tumors. Southern blot analysis with probes for INT1 (164820) and IGF1 (147440), both of which are located on chromosome 12, showed that these genes are not amplified in the malignant glioma. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Kinzler et al. (1987) localized the GLI gene to 12q13-q14.3 by Southern blot analysis of hybrid cell DNA and by in situ hybridization. By in situ hybridization, Arheden et al. (1989) localized the GLI1 gene to 12q13.3-q14.1. By in situ hybridization, Dal Cin et al. (1989) narrowed the assignment of GLI1 to the distal part of band 12q13 (12q13.2 or 12q13.3). The corresponding gene is located on mouse chromosome 10 (Justice et al., 1990). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chung and Seizinger (1992) reviewed the molecular genetics of neurologic tumors, including the role of the GLI oncogene. </p><p>Using confocal microscopy, immunoprecipitation, and luciferase reporter analysis, Kogerman et al. (1999) demonstrated that a centrally located leucine-rich CRM1 (602559)-dependent nuclear export signal causes the 1,106-amino acid GLI1 protein to be retained in the cytoplasm, where it is colocalized with SUFU (607035). SUFU inhibits the transcriptional activity of GLI1. </p><p>Ahn and Joyner (2005) adopted an in vivo genetic fate-mapping strategy using Gli1 as a sensitive readout of Sonic hedgehog (Shh; 600725) activity to systematically mark and follow the fate of Shh-responding cells in the adult mouse forebrain. They showed that initially, only a small population of cells (including both quiescent neural stem cells and transit-amplifying cells) responds to Shh in regions undergoing neurogenesis. This population subsequently expands markedly to continuously provide new neurons in the forebrain. Ahn and Joyner (2005) concluded that their study of the behavior of quiescent neural stem cells provides in vivo evidence that they can self-renew for over a year and generate multiple cell types. Furthermore, Ahn and Joyner (2005) showed that the neural stem cell niches in the subventricular zone and dentate gyrus are established sequentially and not until late embryonic stages. </p><p>Basal cell carcinoma (604451) is the most prevalent cancer in the Western world and it is showing a rapid increase in incidence. Activation of the SHH/Patched (PTCH; 601309) signaling pathway because of PTCH1 inactivation is a key event in sporadic and familial basal cell carcinoma development and is associated with transcriptional activation of several target genes, including PTCH1 itself. These changes are analogous to the situation in Drosophila where hedgehog activates the zinc finger transcription factor Cubitus interruptus, leading to increased transcription of target genes. Nilsson et al. (2000) showed that mice ectopically expressing the human Cubitus interruptus homolog GLI1 in the skin developed tumors closely resembling human basal cell carcinomas as well as other hair follicle-derived neoplasias, such as trichoepitheliomas (601606), cylindromas (132700), and trichoblastomas. Examination of the tumors revealed wildtype p53 (191170) and HRAS (190020) genes. These findings firmly established that increased GLI1 expression is central and probably sufficient for tumor development and suggested that GLI1-induced tumor development does not depend on additional p53 or HRAS mutations. </p><p>Peng et al. (2013) identified a population of multipotent cardiopulmonary mesoderm progenitors (CPPs) within the posterior pole of the heart that are marked by the expression of Wnt2 (147870), Gli1, and Isl1 (600366). Peng et al. (2013) showed that CPPs arise from cardiac progenitors before lung development. Lineage tracing and clonal analysis demonstrates that CPPs generate the mesoderm lineages within the cardiac inflow tract and lung, including cardiomyocytes, pulmonary vascular and airway smooth muscle, proximal vascular endothelium, and pericyte-like cells. CPPs are regulated by hedgehog expression from the foregut endoderm, which is required for connection of the pulmonary vasculature to the heart. Peng et al. (2013) concluded that taken together, their studies identified a novel population of multipotent cardiopulmonary progenitors that coordinates heart and lung codevelopment that is required for adaptation to terrestrial existence. </p><p>Zahreddine et al. (2014) identified a novel form of drug resistance to ribavirin and Ara-C, and observed that the GLI1 and UGT1A (see 191740) families of enzymes are elevated in resistant cells. UGT1As add glucuronic acid to many drugs, modifying their activity in diverse tissues. GLI1 alone is sufficient to drive UGT1A-dependent glucuronidation of ribavirin and Ara-C, and thus drug resistance. Resistance is overcome by genetic or pharmacologic inhibition of GLI1, revealing a potential strategy to overcome drug resistance in some patients. </p><p>Samanta et al. (2015) characterized the contribution to remyelination of a subset of adult neural stem cells, identified by their expression of Gli1. Samanta et al. (2015) showed that these cells are recruited from the subventricular zone to populate demyelinated lesions in the forebrain but never enter healthy white matter tracts. Unexpectedly, recruitment of this pool of neural stem cells, and their differentiation into oligodendrocytes, is significantly enhanced by genetic or pharmacologic inhibition of Gli1. Importantly, complete inhibition of canonical hedgehog signaling (see SHH, 600725) was ineffective, indicating that the role of Gli1 both in augmenting hedgehog signaling and in retarding myelination is specialized. Samanta et al. (2015) found that inhibition of Gli1 improves the functional outcome in a relapsing/remitting model of experimental autoimmune encephalomyelitis and is neuroprotective. The authors suggested that endogenous neural stem cells can be mobilized for the repair of demyelinated lesions by inhibiting Gli1. </p><p>Degirmenci et al. (2018) showed that subepithelial mesenchymal GLI1-expressing cells constitute the Wnt-producing stem cell niche in the colon, required to maintain epithelial homeostasis. Blocking Wnt secretion from GLI1-expressing cells prevents colonic stem cell renewal in mice: the stem cells are lost and, as a consequence, the integrity of the colonic epithelium is corrupted, leading to death. GLI1-expressing cells also play an important role in the maintenance of the small intestine, where they serve as a reserve Wnt source that becomes critical when Wnt secretion from epithelial cells is prevented. Degirmenci et al. (2018) suggested a mechanism by which the stem cell niche is adjusted to meet the needs of the intestine via adaptive changes in the number of mesenchymal GLI1-expressing cells. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p><strong><em>Postaxial Polydactyly Type A8</em></strong></p><p>
|
|
In 8 patients from 3 unrelated families with postaxial polydactyly of the hands and/or feet (PAPA8; 618123), Palencia-Campos et al. (2017) identified homozygosity for nonsense mutations in the GLI1 gene (165220.0001-165220.0003). </p><p><strong><em>Preaxial Polydactyly I</em></strong></p><p>
|
|
In a consanguineous Pakistani family in which 2 cousins exhibited bilateral preaxial polydactyly of the hands (PPD1; 174400), Ullah et al. (2019) identified homozygosity for a missense mutation in the GLI1 gene (L506Q; 165220.0004). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The secreted glycoprotein Sonic hedgehog (SHH) is thought to act as an endodermal signal that controls hindgut patterning and lung growth. In mice, 3 zinc finger transcription factors, Gli1, Gli2, and Gli3, have been implicated in the transduction of Shh signal. Motoyama et al. (1998) found that mutant mice lacking Gli2 function exhibit foregut defects, including stenosis of the esophagus and trachea, as well as hypoplasia and lobulation defects of the lung. A reduction of 50% in the gene dosage of Gli3 (165240) in a Gli2-/- background resulted in esophageal atresia with tracheoesophageal fistula and a severe disruption of lung development. Mutant mice lacking both Gli2 and Gli3 function did not form esophagus, trachea, or lung. These results indicated that Gli2 and Gli3 possess specific and overlapping functions in Shh signaling during foregut development, and suggested that mutations in GLI genes may be involved in human foregut malformations. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>4 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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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">
|
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<strong>.0001 POLYDACTYLY, POSTAXIAL, TYPE A8</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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GLI1, TRP780TER
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<br />
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SNP: rs1309855392,
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ClinVar: RCV000680277
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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 2 affected individuals (patients 1 and 2) from a large multiply consanguineous Turkish pedigree with postaxial polydactyly of the hands and/or feet (PAPA8; 618123), Palencia-Campos et al. (2017) identified homozygosity for a c.2340G-A transition (c.2340G-A, NM_005269.2) in the last exon of the GLI1 gene, resulting in a trp780-to-ter (W780X) substitution and a protein lacking the transactivation domain. The proband had hexadactyly of the hands and feet, whereas the affected distant relative had hexadactyly only of the hands. Another distant relative with hand involvement (patient 3) was heterozygous for the mutation, which he inherited from his unaffected mother, and an older relative with a history of hand involvement that was surgically corrected in infancy did not carry the mutation. The authors suggested that patient 3 might carry hypomorphic variants in another gene, or that mutation in a different gene might be responsible for the phenotype in patients 3 and 4. Functional analysis in cell cultures and in vivo assays revealed severely impaired transcriptional activity of the W780X mutant compared to wildtype. In addition, reduced expression of the GLI1 target PTCH1 (601309) was observed in patient fibroblasts after chemical induction of the hedgehog (see 600725) pathway. The variant was not found in dbSNP, ExAC, EVS, gnomAD, 1000 Genomes Project, or Kaviar databases. </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">
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<strong>.0002 POLYDACTYLY, POSTAXIAL, TYPE A8</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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GLI1, GLN644TER
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<br />
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SNP: rs1565601979,
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ClinVar: RCV000680278
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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 2 brothers (patients 5 and 6) from a consanguineous Turkish family with postaxial polydactyly of the hands and feet (PAPA8; 618123), Palencia-Campos et al. (2017) identified homozygosity for a c.1930C-T transition (c.1930C-T, NM_005269.2) in the last exon of the GLI1 gene, resulting in a gln644-to-ter (Q644X) substitution and a protein lacking the transactivation domain. The mutation was present in heterozygosity in 2 more brothers, 1 who exhibited postminimi polydactyly of the left hand and 1 who was unaffected, and another brother without polydactyly did not carry the mutation. The variant was not found in dbSNP, ExAC, EVS, gnomAD, 1000 Genomes Project, or Kaviar databases. </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">
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<strong>.0003 POLYDACTYLY, POSTAXIAL, TYPE A8</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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GLI1, ARG113TER
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<br />
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SNP: rs748321474,
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gnomAD: rs748321474,
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ClinVar: RCV000680279
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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 4 affected individuals from 2 sibships of a consanguineous Pakistani pedigree (patients 7 to 10) with postaxial polydactyly of the feet (PAPA8; 618123), 1 of whom also had postaxial polydactyly of the left hand, Palencia-Campos et al. (2017) identified homozygosity for a c.337C-T transition (c.337C-T, NM_005269.2) in exon 3 of the GLI1 gene, resulting in an arg113-to-ter (R113X) substitution, predicted to be subject to nonsense-mediated decay. The unaffected parents and an unaffected sib were heterozygous for the mutation. The variant was found in 1 of 246,242 alleles in the gnomAD database. </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">
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<strong>.0004 POLYDACTYLY, PREAXIAL I (1 family)</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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GLI1, LEU506GLN
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<br />
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SNP: rs753690500,
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gnomAD: rs753690500,
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ClinVar: RCV000770752, RCV004817987
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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 a consanguineous Pakistani family in which 2 cousins exhibited bilateral preaxial polydactyly of the hands (PPD1; 174400), Ullah et al. (2019) identified homozygosity for a c.1517T-A transition in the GLI1 gene, resulting in a leu506-to-gln (L506Q) substitution at a highly conserved residue. The mutation segregated fully with disease in the family and was not found in 70 unrelated Pakistani controls, but was present in heterozygosity at low frequency in the gnomAD database (allele frequency, 0.0002109). </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">
|
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<strong>See Also:</strong>
|
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</span>
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</h4>
|
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<span class="mim-text-font">
|
|
Bigner et al. (1988); Ruppert et al. (1988)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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