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Entry
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- *177075 - MAF bZIP TRANSCRIPTION FACTOR; MAF
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*177075</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</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/177075">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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="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=ENSG00000178573;t=ENST00000326043" 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=4094" 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=177075" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000178573;t=ENST00000326043" 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_001031804,NM_005360,XM_017023233,XM_017023234,XM_017023235,XM_024450279,XR_001751902,XR_002957802,XR_002957803,XR_002957804" 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_005360" 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=177075" 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=01518&isoform_id=01518_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/MAF" 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/3335148,3335150,3335152,5453736,25990896,27464836,51858457,73427806,223590080,1034594604,1034594606,1034594608,1370468459,2462549004,2462549006,2462549008" 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/O75444" 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=4094" 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=ENSG00000178573;t=ENST00000326043" 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=MAF" 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=MAF" 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+4094" 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/MAF" 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:4094" 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/4094" 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=chr16&hgg_gene=ENST00000649926.1&hgg_start=79202622&hgg_end=79600737&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=177075[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=177075[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://www.deciphergenomics.org/gene/MAF/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000178573" 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=MAF" 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=MAF" 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=MAF" 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="http://www.LOVD.nl/MAF" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=MAF&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/PA30534" 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:6776" 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/FBgn0000964.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:96909" 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/MAF#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:96909" 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/4094/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=4094" 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=WBGene00077521;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-010605-2" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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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:4094" 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=MAF&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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177075
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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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MAF bZIP TRANSCRIPTION FACTOR; MAF
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</span>
|
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</h3>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG<br />
|
|
PROTOONCOGENE MAF
|
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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">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=MAF" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MAF</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>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/16/667?start=-3&limit=10&highlight=667">16q23.2</a>
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr16:79202622-79600737&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'})">16:79,202,622-79,600,737</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
|
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Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=601088,610202" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/667?start=-3&limit=10&highlight=667">
|
|
16q23.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Ayme-Gripp syndrome
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/601088"> 601088 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Cataract 21, multiple types
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/610202"> 610202 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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|
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</span>
|
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</td>
|
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</tr>
|
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<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;">
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<p>MAF encodes a transcription factor involved in T-helper-2 (Th2) cell differentiation. MAF is also required for efficient development of Th17 cells, and it controls transcription of the gene encoding interleukin-4 (IL4; <a href="/entry/147780">147780</a>) in CD4 (<a href="/entry/186940">186940</a>)-positive follicular helper T cells (summary by <a href="#17" class="mim-tip-reference" title="Ranzani, V., Rossetti, G., Panzeri, I., Arrigoni, A., Bonnal, R. J. P., Curti, S., Gruarin, P., Provasi, E., Sugliano, E., Marconi, M., De Francesco, R., Geginat, J., Bodega, B., Abrignani, S., Pagani, M. <strong>The long intergenic noncoding RNA landscape of human lymphocytes highlights the regulation of T cell differentiation by linc-MAF-4.</strong> Nature Immun. 16: 318-325, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25621826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25621826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25621826[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/ni.3093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25621826">Ranzani et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25621826" 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="#15" class="mim-tip-reference" title="Nishizawa, M., Kataoka, K., Goto, N., Fujiwara, K. T., Kawai, S. <strong>v-maf, a viral oncogene that encodes a 'leucine zipper' motif.</strong> Proc. Nat. Acad. Sci. 86: 7711-7715, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2554284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2554284</a>] [<a href="https://doi.org/10.1073/pnas.86.20.7711" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2554284">Nishizawa et al. (1989)</a> identified in the human genome a cellular analog of v-maf which was isolated from the provirus of the avian musculoaponeurotic fibrosarcoma virus AS42. The deduced amino acid sequence of the v-maf gene product contains a leucine zipper motif similar to that found in a number of DNA-binding proteins, including the gene products of the FOS (<a href="/entry/164810">164810</a>), JUN (<a href="/entry/165160">165160</a>), and MYC (<a href="/entry/190080">190080</a>) oncogenes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2554284" 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="Ring, B. Z., Cordes, S. P., Overbeek, P. A., Barsh, G. S. <strong>Regulation of mouse lens fiber cell development and differentiation by the Maf gene.</strong> Development 127: 307-317, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10603348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10603348</a>] [<a href="https://doi.org/10.1242/dev.127.2.307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10603348">Ring et al. (2000)</a> cloned mouse Maf, which encodes a deduced 370-amino acid protein. In situ hybridization and X-gal staining of mouse embryos revealed widespread Maf expression, including in perichondrium of axial and appendicular skeleton, forebrain, kidney, and developing eye. Maf expression was first detected in eye between embryonic days 10.5 and 11, when posterior cells of the lens vesicle begin to differentiate into elongated primary lens fiber cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10603348" 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>By screening for genes expressed in mouse nervous system, <a href="#23" class="mim-tip-reference" title="Wende, H., Lechner, S. G., Cheret, C., Bourane, S., Kolanczyk, M. E., Pattyn, A., Reuter, K., Munier, F. L., Carroll, P., Lewin, G. R., Birchmeier, C. <strong>The transcription factor c-Maf controls touch receptor development and function.</strong> Science 335: 1373-1376, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22345400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22345400</a>] [<a href="https://doi.org/10.1126/science.1214314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22345400">Wende et al. (2012)</a> found that Maf was expressed in neurons of rapidly-adapting mechanoreceptors of the lumbar dorsal root ganglia (DRG). Maf expression started around embryonic day 11. Immunohistochemical analysis revealed similar MAF expression in human DRG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22345400" 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="Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others. <strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong> Am. J. Hum. Genet. 96: 816-825, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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/10.1016/j.ajhg.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25865493">Niceta et al. (2015)</a> performed immunohistochemical analysis of mouse embryos and confirmed previously reported widespread Maf staining in the lens, dorsal spinal cord, dorsal root ganglia, skin, kidney, hypertrophic chondrocytes of vertebrae, rib and limb cartilage, and the cartilage primordium of the basioccipital bone. <a href="#14" class="mim-tip-reference" title="Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others. <strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong> Am. J. Hum. Genet. 96: 816-825, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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/10.1016/j.ajhg.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25865493">Niceta et al. (2015)</a> detected a specific and strong signal in cochlear cells of E14.5 embryos. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25865493" 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>Through the use of a cDNA probe for in situ hybridization, <a href="#24" class="mim-tip-reference" title="Yoshida, M. C., Nishizawa, M., Kataoka, K., Goto, N., Fujiwara, K. T., Kawai, S. <strong>Localization of the human MAF protooncogene on chromosome 16 to bands q22-q23. (Abstract)</strong> Cytogenet. Cell Genet. 58: 2003 only, 1991."None>Yoshida et al. (1991)</a> localized the MAF gene to chromosome 16q22-q23. <a href="#8" class="mim-tip-reference" title="Jamieson, R. V., Perveen, R., Kerr, B., Carette, M., Yardley, J., Heon, E., Wirth, M. G., van Heyningen, V., Donnai, D., Munier, F., Black, G. C. M. <strong>Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.</strong> Hum. Molec. Genet. 11: 33-42, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11772997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11772997</a>] [<a href="https://doi.org/10.1093/hmg/11.1.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11772997">Jamieson et al. (2002)</a> reported that the MAF gene maps to chromosome 16q23.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11772997" 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="#3" class="mim-tip-reference" title="Blank, V., Andrews, N. C. <strong>The Maf transcription factors: regulators of differentiation.</strong> Trends Biochem. Sci. 22: 437-441, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9397686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9397686</a>] [<a href="https://doi.org/10.1016/s0968-0004(97)01105-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9397686">Blank and Andrews (1997)</a> reviewed the MAF transcription factors, a unique subclass of basic-leucine zipper transcription (bZIP) factors. Members of the MAF family appear to play important roles in the regulation of differentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9397686" 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>Minimal change nephrotic syndrome (MCNS), also known as lipoid nephrosis, is a glomerular disease characterized by heavy proteinuria that remits with abatement of cell-mediated immunity. <a href="#21" class="mim-tip-reference" title="Shalhoub, R. J. <strong>Pathogenesis of lipoid nephrosis: a disorder of T-cell function.</strong> Lancet 304: 556-560, 1974. Note: Originally Volume 2.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4140273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4140273</a>] [<a href="https://doi.org/10.1016/s0140-6736(74)91880-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4140273">Shalhoub (1974)</a> postulated that MCNS results from abnormal T-cell activation. By subtractive cloning and differential screening analyses using MCNS patient T lymphocytes, <a href="#19" class="mim-tip-reference" title="Sahali, D., Pawlak, A., Valanciute, A., Grimbert, P., Lang, P., Remy, P., Bensman, A., Guellaen, G. <strong>A novel approach to investigation of the pathogenesis of active minimal-change nephrotic syndrome using subtracted cDNA library screening.</strong> J. Am. Soc. Nephrol. 13: 1238-1247, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11961011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11961011</a>] [<a href="https://doi.org/10.1681/ASN.V1351238" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11961011">Sahali et al. (2002)</a> identified a number of genes differentially regulated in MCNS. The findings suggested that MCNS relapse might be associated with a Th2 response, in part due to downregulation of IL12RB2 (<a href="/entry/601642">601642</a>), a Th1-associated cytokine receptor, and selective recruitment of MAF, which promotes Th2 responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4140273+11961011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Aziz, A., Soucie, E., Sarrazin, S., Sieweke, M. H. <strong>MafB/c-Maf deficiency enables self-renewal of differentiated functional macrophages.</strong> Science 326: 867-871, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19892988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19892988</a>] [<a href="https://doi.org/10.1126/science.1176056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19892988">Aziz et al. (2009)</a> reported that combined deficiency for the transcription factors MafB and c-Maf enables extended expansion of mature monocytes and macrophages in culture without loss of differentiated phenotype and function. Upon transplantation, the expanded cells are nontumorigenic and contribute to functional macrophage populations in vivo. Small hairpin RNA inactivation showed that continuous proliferation of MafB/c-Maf-deficient macrophages requires concomitant upregulation of 2 pluripotent stem cell-inducing factors, KLF4 (<a href="/entry/602253">602253</a>) and c-Myc. <a href="#2" class="mim-tip-reference" title="Aziz, A., Soucie, E., Sarrazin, S., Sieweke, M. H. <strong>MafB/c-Maf deficiency enables self-renewal of differentiated functional macrophages.</strong> Science 326: 867-871, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19892988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19892988</a>] [<a href="https://doi.org/10.1126/science.1176056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19892988">Aziz et al. (2009)</a> concluded that MafB/c-Maf deficiency renders self-renewal compatible with terminal differentiation. It thus appears possible to amplify functional differentiated cells without malignant transformation or stem cell intermediates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19892988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Sato, K., Miyoshi, F., Yokota, K., Araki, Y., Asanuma, Y., Akiyama, Y., Yoh, K., Takahashi, S., Aburatani, H., Mimura, T. <strong>Marked induction of c-Maf protein during Th17 cell differentiation and its implication in memory Th cell development.</strong> J. Biol. Chem. 286: 14963-14971, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21402704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21402704</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21402704[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/10.1074/jbc.M111.218867" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21402704">Sato et al. (2011)</a> reported that Maf was highly expressed in mouse Th2 and Th17 cells, whereas Gata3 (<a href="/entry/131320">131320</a>) was only expressed in Th2 cells. Luciferase analysis showed that Maf induced Il23r (<a href="/entry/607562">607562</a>) promoter activity, likely via binding to a MAF recognition element (MARE) within the promoter. <a href="#20" class="mim-tip-reference" title="Sato, K., Miyoshi, F., Yokota, K., Araki, Y., Asanuma, Y., Akiyama, Y., Yoh, K., Takahashi, S., Aburatani, H., Mimura, T. <strong>Marked induction of c-Maf protein during Th17 cell differentiation and its implication in memory Th cell development.</strong> J. Biol. Chem. 286: 14963-14971, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21402704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21402704</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21402704[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/10.1074/jbc.M111.218867" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21402704">Sato et al. (2011)</a> concluded that MAF is a versatile transcription factor that is involved in the development and/or maintenance of memory Th cells, particularly Th17 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21402704" 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>MFTRR (<a href="/entry/616264">616264</a>) is a chromatin-associated long intergenic noncoding RNA (lincRNA) specific to CD4-positive Th1 cells. <a href="#17" class="mim-tip-reference" title="Ranzani, V., Rossetti, G., Panzeri, I., Arrigoni, A., Bonnal, R. J. P., Curti, S., Gruarin, P., Provasi, E., Sugliano, E., Marconi, M., De Francesco, R., Geginat, J., Bodega, B., Abrignani, S., Pagani, M. <strong>The long intergenic noncoding RNA landscape of human lymphocytes highlights the regulation of T cell differentiation by linc-MAF-4.</strong> Nature Immun. 16: 318-325, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25621826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25621826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25621826[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/ni.3093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25621826">Ranzani et al. (2015)</a> found that expression of the neighboring genes MAF and MFTRR was inversely correlated, with Th1 cells showing high expression of MFTRR and low expression of MAF, and Th2 and Th17 cells showing low expression of MFTRR and high expression of MAF. Knockdown of MAFTRR via small interfering RNA in activated CD4-positive naive T cells led to increased MAF expression. Th2 cells showed increased RNA polymerase II binding and increased abundance of histone trimethylated at lys4 in the MAF promoter region compared with Th1 cells. RNA immunoprecipitation analysis detected interaction of MFTRR with the chromatin modifiers EZH2 (<a href="/entry/601573">601573</a>) and LSD1 (KDM1A; <a href="/entry/609132">609132</a>). Knockdown of MFTRR was associated with reduced abundance of EZH2 and LSD1 and decreased EZH2 enzyme activity at the MAF promoter. <a href="#17" class="mim-tip-reference" title="Ranzani, V., Rossetti, G., Panzeri, I., Arrigoni, A., Bonnal, R. J. P., Curti, S., Gruarin, P., Provasi, E., Sugliano, E., Marconi, M., De Francesco, R., Geginat, J., Bodega, B., Abrignani, S., Pagani, M. <strong>The long intergenic noncoding RNA landscape of human lymphocytes highlights the regulation of T cell differentiation by linc-MAF-4.</strong> Nature Immun. 16: 318-325, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25621826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25621826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25621826[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/ni.3093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25621826">Ranzani et al. (2015)</a> concluded that there is a long-distance interaction between the genomic regions of MFTRR and MAF, with MFTRR acting as a scaffold to recruit EZH2 and LSD1 and to modulate EZH2 enzyme activity at the MAF promoter, thus regulating MAF transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25621826" 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 RNA and protein expression profiling at single-cell resolution in mouse cells, <a href="#4" class="mim-tip-reference" title="Chihara, N., Madi, A., Kondo, T., Zhang, H., Acharya, N., Singer, M., Nyman, J., Marjanovic, N. D., Kowalczyk, M. S., Wang, C., Kurtulus, S., Law, T., and 9 others. <strong>Induction and transcriptional regulation of the co-inhibitory gene module in T cells.</strong> Nature 558: 454-459, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29899446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29899446</a>] [<a href="https://doi.org/10.1038/s41586-018-0206-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29899446">Chihara et al. (2018)</a> identified a module of coinhibitory receptors that includes not only several known coinhibitory receptors but many novel surface receptors. <a href="#4" class="mim-tip-reference" title="Chihara, N., Madi, A., Kondo, T., Zhang, H., Acharya, N., Singer, M., Nyman, J., Marjanovic, N. D., Kowalczyk, M. S., Wang, C., Kurtulus, S., Law, T., and 9 others. <strong>Induction and transcriptional regulation of the co-inhibitory gene module in T cells.</strong> Nature 558: 454-459, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29899446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29899446</a>] [<a href="https://doi.org/10.1038/s41586-018-0206-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29899446">Chihara et al. (2018)</a> functionally validated 2 novel coinhibitory receptors, activated protein C receptor (PROCR; <a href="/entry/600646">600646</a>) and podoplanin (PDPN; <a href="/entry/608863">608863</a>). The module of coinhibitory receptors is coexpressed in both CD4+ and CD8+ T cells and is part of a larger coinhibitory gene program that is shared by nonresponsive T cells in several physiologic contexts and is driven by the immunoregulatory cytokine IL27 (<a href="/entry/608273">608273</a>). Computational analysis identified the transcription factors PRDM1 (<a href="/entry/603423">603423</a>) and c-MAF as cooperative regulators of the coinhibitory module, and this was validated experimentally. This molecular circuit underlies the coexpression of coinhibitory receptors in T cells and identifies regulators of T cell function with the potential to control autoimmunity and tumor immunity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29899446" 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="Jamieson, R. V., Perveen, R., Kerr, B., Carette, M., Yardley, J., Heon, E., Wirth, M. G., van Heyningen, V., Donnai, D., Munier, F., Black, G. C. M. <strong>Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.</strong> Hum. Molec. Genet. 11: 33-42, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11772997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11772997</a>] [<a href="https://doi.org/10.1093/hmg/11.1.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11772997">Jamieson et al. (2002)</a> identified a family where ocular developmental abnormalities cosegregated with a translocation, t(5;16)(p15.3;q23.2), in both balanced and unbalanced forms. Cloning the 16q23.2 breakpoint demonstrated that it transected the genomic-control domain of MAF. The 16q23.2 breakpoint also transected the common fragile site FRA16D (see <a href="/entry/605131">605131</a>), providing a molecular demonstration of a germline break in a common fragile site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11772997" 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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Through mutation screening of a panel of patients with hereditary congenital cataract, <a href="#8" class="mim-tip-reference" title="Jamieson, R. V., Perveen, R., Kerr, B., Carette, M., Yardley, J., Heon, E., Wirth, M. G., van Heyningen, V., Donnai, D., Munier, F., Black, G. C. M. <strong>Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.</strong> Hum. Molec. Genet. 11: 33-42, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11772997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11772997</a>] [<a href="https://doi.org/10.1093/hmg/11.1.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11772997">Jamieson et al. (2002)</a> identified a mutation in the MAF gene (<a href="#0001">177075.0001</a>) in a 3-generation family with autosomal dominant juvenile-onset pulverulent cataract (CTRCT21; <a href="/entry/610202">610202</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11772997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 3-generation family with cerulean congenital cataract, <a href="#22" class="mim-tip-reference" title="Vanita, V., Singh, D., Robinson, P. N., Sperling, K., Singh, J. R. <strong>A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family.</strong> Am. J. Med. Genet. 140A: 558-566, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470690</a>] [<a href="https://doi.org/10.1002/ajmg.a.31126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470690">Vanita et al. (2006)</a> sequenced the MAF gene and identified a heterozygous missense mutation in the MAF gene (<a href="#0002">177075.0002</a>) that cosegregated with the disease. The mutation was not found in 106 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16470690" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 families and 1 sporadic patient with cataract and microcornea, <a href="#6" class="mim-tip-reference" title="Hansen, L., Eiberg, H., Rosenberg, T. <strong>Novel MAF mutation in a family with congenital cataract-microcornea syndrome.</strong> Molec. Vision 13: 2019-2022, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17982426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17982426</a>]" pmid="17982426">Hansen et al. (2007)</a> analyzed 13 lens-expressed cataract genes and identified heterozygosity for a missense mutation in the MAF gene (R299S; <a href="#0003">177075.0003</a>) in 1 family. <a href="#6" class="mim-tip-reference" title="Hansen, L., Eiberg, H., Rosenberg, T. <strong>Novel MAF mutation in a family with congenital cataract-microcornea syndrome.</strong> Molec. Vision 13: 2019-2022, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17982426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17982426</a>]" pmid="17982426">Hansen et al. (2007)</a> noted that all 3 of the reported cataract-associated MAF mutations are located in the basic region of the DNA-binding domain in alpha-helix-3, suggestive of a mutational hotspot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17982426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a 3-generation Japanese family who had congenital cataract with or without microcornea, <a href="#13" class="mim-tip-reference" title="Narumi, Y., Nishina, S., Tokimitsu, M., Aoki, Y., Kosaki, R., Wakui, K., Azuma, N., Murata, T., Takada, F., Fukushima, Y., Kosho, T. <strong>Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.</strong> Am. J. Med. Genet. 164A: 1272-1276, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24664492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24664492</a>] [<a href="https://doi.org/10.1002/ajmg.a.36433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24664492">Narumi et al. (2014)</a> performed whole-exome sequencing and identified a heterozygous missense mutation in the MAF gene (Q303P; <a href="#0004">177075.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24664492" 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>Ayme-Gripp Syndrome</em></strong></p><p>
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In 8 unrelated patients with congenital cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies (Ayme-Gripp syndrome; <a href="/entry/601088">601088</a>), <a href="#14" class="mim-tip-reference" title="Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others. <strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong> Am. J. Hum. Genet. 96: 816-825, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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/10.1016/j.ajhg.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25865493">Niceta et al. (2015)</a> identified heterozygosity for de novo missense mutations in the MAF gene (see, e.g., <a href="#0005">177075.0005</a>-<a href="#0010">177075.0010</a>). Functional analyses demonstrated that all Ayme-Gripp-associated mutants accumulated in cells as unphosphorylated proteins, in sharp contrast to cells expressing wildtype MAF or the cataract-associated R288P mutant (<a href="#0001">177075.0001</a>), in which the phosphorylated protein dominated and unphosphorylated MAF was barely detectable. In a zebrafish model, <a href="#14" class="mim-tip-reference" title="Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others. <strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong> Am. J. Hum. Genet. 96: 816-825, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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/10.1016/j.ajhg.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25865493">Niceta et al. (2015)</a> used measurement of the optic tectum as a surrogate for brain volume, reduction in which correlates with neurodevelopmental defects in humans. They found that Ayme-Gripp-associated mutations caused a statistically significant reduction in the size of the optic tectum, compared to wildtype MAF or the R288P mutant, which did not induce appreciable brain volume differences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25865493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By generating healthy mice overexpressing mouse Maf in immature and mature T cells, <a href="#7" class="mim-tip-reference" title="Ho, I.-C., Lo, D., Glimcher, L. H. <strong>c-maf promotes T helper cell type 2 (Th2) and attenuates Th1 differentiation by both interleukin 4-dependent and -independent mechanisms.</strong> J. Exp. Med. 188: 1859-1866, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9815263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9815263</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9815263[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1084/jem.188.10.1859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9815263">Ho et al. (1998)</a> confirmed that Maf transactivates expression of Il4. Levels of serum IgE and IgG1, but not Ifng (<a href="/entry/147570">147570</a>)-dependent IgG2a, were higher in transgenic mice than in their wildtype littermates. Splenocytes derived from Maf-transgenic mice, in a gene dose-dependent manner, differentiated into Th2 cells, whereas wildtype splenocytes under the same conditions became Th1 cells. Splenocytes from Maf-transgenic mice lacking Il4 failed to undergo Th2 differentiation, but they could differentiate into Th1 cells. Maf overexpression alone was insufficient to induce Il4 production by normal Th1 cells. <a href="#7" class="mim-tip-reference" title="Ho, I.-C., Lo, D., Glimcher, L. H. <strong>c-maf promotes T helper cell type 2 (Th2) and attenuates Th1 differentiation by both interleukin 4-dependent and -independent mechanisms.</strong> J. Exp. Med. 188: 1859-1866, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9815263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9815263</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9815263[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1084/jem.188.10.1859" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9815263">Ho et al. (1998)</a> concluded that overexpression of MAF skews the Th response to a Th2 type via IL4-dependent and -independent mechanisms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9815263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Kim, J. I., Li, T., Ho, I. C., Grusby, M. J., Glimcher, L. H. <strong>Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development.</strong> Proc. Nat. Acad. Sci. 96: 3781-3785, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10097114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10097114</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10097114[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.96.7.3781" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10097114">Kim et al. (1999)</a> demonstrated that the homozygous null mutant Maf mouse embryo exhibits defective lens formation and microphthalmia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10097114" 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="Ring, B. Z., Cordes, S. P., Overbeek, P. A., Barsh, G. S. <strong>Regulation of mouse lens fiber cell development and differentiation by the Maf gene.</strong> Development 127: 307-317, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10603348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10603348</a>] [<a href="https://doi.org/10.1242/dev.127.2.307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10603348">Ring et al. (2000)</a> found that Maf -/- mouse embryos exhibited a slightly foreshortened head and abnormal lens development, and that nearly all died within a few hours of birth. The 1 surviving animal exhibited microphthalmia, followed by cutaneous closure of the ocular chamber. Fiber cell differentiation and elongation ceased by embryonic day 12.5 in Maf -/- lens, with persistence of a hollow lens vesicle and absence of alpha-crystallin (see CRYAA; <a href="/entry/123580">123580</a>) expression. Cells at the equatorial zone of the lens withdrew from the cell cycle and began to express fiber cell-specific proteins, but they failed to elongate and differentiate normally. After embryonic day 16.5, the mutant vesicle became progressively deformed. <a href="#18" class="mim-tip-reference" title="Ring, B. Z., Cordes, S. P., Overbeek, P. A., Barsh, G. S. <strong>Regulation of mouse lens fiber cell development and differentiation by the Maf gene.</strong> Development 127: 307-317, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10603348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10603348</a>] [<a href="https://doi.org/10.1242/dev.127.2.307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10603348">Ring et al. (2000)</a> identified functional MAF-binding sites in the promoter regions of mouse alpha-A-crystallin (CRYAA), mouse beta-B2 crystallin (CRYBB2; <a href="/entry/123620">123620</a>), and human beta-A4-crystallin (CRYBA4; <a href="/entry/123631">123631</a>). They concluded that Maf deficiency causes a profound defect in early maturation of primary and secondary lens fiber cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10603348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Lyon, M. F., Jamieson, R. V., Perveen, R., Glenister, P. H., Griffiths, R., Boyd, Y., Glimcher, L. H., Favor, J., Munier, F. L., Black, G. C. M. <strong>A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding.</strong> Hum. Molec. Genet. 12: 585-594, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12620964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12620964</a>]" pmid="12620964">Lyon et al. (2003)</a> reported a mouse mutant which in the heterozygous state exhibits mild pulverulent cataract named 'opaque flecks in lens' (Ofl). The mutant was shown to be allelic with a knockout of Maf. Homozygotes for Ofl and for Maf null mutations were similar except for the addition of renal tubular nephritis in surviving Ofl homozygotes. Sequencing identified the mutation as a 1803G-A transition, leading to an arg291-to-gln (R291Q) substitution in the basic region of the DNA-binding domain. Since mice heterozygous for Maf knockouts showed no cataracts, the authors suggested that the Ofl R291Q mutant protein may have a dominant effect. The mutation also resulted in a selective alteration in DNA binding affinities to target oligonucleotides containing variations in core CRE and TRE elements. The authors hypothesized that arginine-291 may be important for core element binding and suggested that the mutant protein may exert a differential downstream effect among its binding targets. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12620964" 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>By ethylnitrosourea (ENU) mutagenesis, <a href="#16" class="mim-tip-reference" title="Perveen, R., Favor, J., Jamieson, R. V., Ray, D. W., Black, G. C. M. <strong>A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.</strong> Hum. Molec. Genet. 16: 1030-1038, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17374726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17374726</a>] [<a href="https://doi.org/10.1093/hmg/ddm048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17374726">Perveen et al. (2007)</a> identified a semidominant mouse c-Maf mutation, resulting in a asp90-to-val (D90V) substitution at a highly conserved residue within the N-terminal minimal transactivation domain (MTD). The phenotype of D90V homozygotes was isolated cataract. Functional analysis revealed that the D90V mutation results in increased promoter activation and enhances p300 (<a href="/entry/602700">602700</a>) recruitment in a cell type-dependent manner. <a href="#16" class="mim-tip-reference" title="Perveen, R., Favor, J., Jamieson, R. V., Ray, D. W., Black, G. C. M. <strong>A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.</strong> Hum. Molec. Genet. 16: 1030-1038, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17374726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17374726</a>] [<a href="https://doi.org/10.1093/hmg/ddm048" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17374726">Perveen et al. (2007)</a> observed similar enhancement of p300 interaction with the S50T mutation in the MTD of the NRL gene (<a href="/entry/162080#0001">162080.0001</a>), which suggests a common mechanism of action. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17374726" 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="#23" class="mim-tip-reference" title="Wende, H., Lechner, S. G., Cheret, C., Bourane, S., Kolanczyk, M. E., Pattyn, A., Reuter, K., Munier, F. L., Carroll, P., Lewin, G. R., Birchmeier, C. <strong>The transcription factor c-Maf controls touch receptor development and function.</strong> Science 335: 1373-1376, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22345400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22345400</a>] [<a href="https://doi.org/10.1126/science.1214314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22345400">Wende et al. (2012)</a> found that conditional knockout of Maf in mouse DRG cells disrupted the architecture and function of several rapidly adapting mechanoreceptor subtypes. Pacinian corpuscles, specialized to detect high-frequency vibrations, were severely atrophied, with loss of innervating axons. In vitro skin-saphenous nerve preparations of Maf-knockout mice revealed abnormal fire response to mechanical stimuli. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22345400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121917735 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917735;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/rs121917735?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=rs121917735" 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=rs121917735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 5 affected members of a 3-generation family with autosomal dominant juvenile-onset cataract (CTRCT21; <a href="/entry/610202">610202</a>), <a href="#8" class="mim-tip-reference" title="Jamieson, R. V., Perveen, R., Kerr, B., Carette, M., Yardley, J., Heon, E., Wirth, M. G., van Heyningen, V., Donnai, D., Munier, F., Black, G. C. M. <strong>Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.</strong> Hum. Molec. Genet. 11: 33-42, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11772997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11772997</a>] [<a href="https://doi.org/10.1093/hmg/11.1.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11772997">Jamieson et al. (2002)</a> identified a 1670G-C transversion in the MAF gene, resulting in an arg288-to-pro (R288P) substitution in the basic region of the DNA-binding domain of MAF, predicted to cause an abnormal helical conformation. The cataracts were cortical pulverulent opacities in a lamellar distribution. Nuclear pulverulent opacities were present in 2 cases. Later progression with posterior subcapsular opacification necessitated surgery in adult life. Two of the 5 affected individuals had microcornea, and 1 also had bilateral iris colobomas. The mutation was not found in 217 other subjects with a range of eye anomalies or in 496 normal control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11772997" 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="#23" class="mim-tip-reference" title="Wende, H., Lechner, S. G., Cheret, C., Bourane, S., Kolanczyk, M. E., Pattyn, A., Reuter, K., Munier, F. L., Carroll, P., Lewin, G. R., Birchmeier, C. <strong>The transcription factor c-Maf controls touch receptor development and function.</strong> Science 335: 1373-1376, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22345400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22345400</a>] [<a href="https://doi.org/10.1126/science.1214314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22345400">Wende et al. (2012)</a> tested vibrotactile acuity over a wide range of frequencies in 4 affected members of the family originally studied by <a href="#8" class="mim-tip-reference" title="Jamieson, R. V., Perveen, R., Kerr, B., Carette, M., Yardley, J., Heon, E., Wirth, M. G., van Heyningen, V., Donnai, D., Munier, F., Black, G. C. M. <strong>Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.</strong> Hum. Molec. Genet. 11: 33-42, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11772997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11772997</a>] [<a href="https://doi.org/10.1093/hmg/11.1.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11772997">Jamieson et al. (2002)</a>. The authors found that the skin of individuals with the R288P substitution displayed reduced acuity to high-frequency vibration compared to normal controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11772997+22345400" 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">rs121917736 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917736;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=rs121917736" 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=rs121917736" 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=RCV000014137" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000014137" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000014137</a>
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<p>In 12 affected members of a 3-generation family with congenital cerulean cataract, 6 of whom also had microcornea (CTRCT21; <a href="/entry/610202">610202</a>), <a href="#22" class="mim-tip-reference" title="Vanita, V., Singh, D., Robinson, P. N., Sperling, K., Singh, J. R. <strong>A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family.</strong> Am. J. Med. Genet. 140A: 558-566, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470690</a>] [<a href="https://doi.org/10.1002/ajmg.a.31126" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470690">Vanita et al. (2006)</a> identified heterozygosity for an 890A-G transition in the MAF gene, resulting in the replacement of a highly conserved lys297 with arg (K297R) in a basic region of the DNA-binding domain of the protein. The mutation was not found in 106 unrelated controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16470690" 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">rs786205221 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205221;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=rs786205221" 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=rs786205221" 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=RCV000170458 OR RCV002223802" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170458, RCV002223802" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170458...</a>
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<p>In 4 affected members spanning 3 generations of a family (CCMC0112) with cataract and microcornea (CTRCT21; <a href="/entry/610202">610202</a>), <a href="#6" class="mim-tip-reference" title="Hansen, L., Eiberg, H., Rosenberg, T. <strong>Novel MAF mutation in a family with congenital cataract-microcornea syndrome.</strong> Molec. Vision 13: 2019-2022, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17982426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17982426</a>]" pmid="17982426">Hansen et al. (2007)</a> identified heterozygosity for a c.895C-A transversion in exon 1 of the MAF gene, resulting in an arg299-to-ser (R299S) substitution at a highly conserved residue within the alpha-helix-3 of the regulatory domain, predicted to destroy the basic region of the DNA-binding domain of the MAF leucine zipper. The mutation, which segregated with disease in the family, was not found in 152 controls. Affected individuals were diagnosed with posterior polar, nuclear lamellar, and nuclear stellate cataracts, and 1 patient also had unilateral iris coloboma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17982426" 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 CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA</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">rs786205222 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786205222;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=rs786205222" 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=rs786205222" 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=RCV000170459" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000170459" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000170459</a>
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<p>In 6 affected members of a 3-generation Japanese family with cataract with or without microcornea (CTRCT21; <a href="/entry/610202">610202</a>), <a href="#13" class="mim-tip-reference" title="Narumi, Y., Nishina, S., Tokimitsu, M., Aoki, Y., Kosaki, R., Wakui, K., Azuma, N., Murata, T., Takada, F., Fukushima, Y., Kosho, T. <strong>Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.</strong> Am. J. Med. Genet. 164A: 1272-1276, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24664492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24664492</a>] [<a href="https://doi.org/10.1002/ajmg.a.36433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24664492">Narumi et al. (2014)</a> identified heterozygosity for a c.908A-C transversion in the MAF gene, resulting in a gln303-to-pro (Q303P) substitution at a highly conserved residue in the basic region. (<a href="#13" class="mim-tip-reference" title="Narumi, Y., Nishina, S., Tokimitsu, M., Aoki, Y., Kosaki, R., Wakui, K., Azuma, N., Murata, T., Takada, F., Fukushima, Y., Kosho, T. <strong>Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.</strong> Am. J. Med. Genet. 164A: 1272-1276, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24664492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24664492</a>] [<a href="https://doi.org/10.1002/ajmg.a.36433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24664492">Narumi et al. (2014)</a> reported the mutation as Q303L in the abstract and on p. 1274 but as Q303P elsewhere.) The mutation, which segregated with disease in the family, was not found in 200 Japanese control alleles or in the NHLBI Exome Sequencing Project database. Affected individuals had lamellar, anterior polar, nuclear, and anterior subcapsular cataracts; additional ocular features included microcornea in 3 patients, as well as iris coloboma, mild macular hypoplasia, and retinal detachment in 1 patient each. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24664492" 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="0005" class="mim-anchor"></a>
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<strong>.0005 AYME-GRIPP SYNDROME</strong>
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MAF, SER54LEU (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502766;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502766</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs727502766 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502766;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=rs727502766" 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=rs727502766" 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=RCV000149902 OR RCV003153434 OR RCV004754316" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149902, RCV003153434, RCV004754316" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149902...</a>
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<p>In 2 unrelated women with Ayme-Gripp syndrome (AYGRP; <a href="/entry/601088">601088</a>), 1 of whom was originally reported by <a href="#1" class="mim-tip-reference" title="Ayme, S., Philip, N. <strong>Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.</strong> Clin. Dysmorph. 5: 55-60, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8867660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8867660</a>] [<a href="https://doi.org/10.1097/00019605-199601000-00008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8867660">Ayme and Philip (1996)</a>, <a href="#14" class="mim-tip-reference" title="Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others. <strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong> Am. J. Hum. Genet. 96: 816-825, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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/10.1016/j.ajhg.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25865493">Niceta et al. (2015)</a> identified heterozygosity for a de novo c.161C-T transition (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502766;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502766</a>) in the MAF gene, resulting in a ser54-to-leu (S54L) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. The mutation was not found in any of the parents. In 1 of the probands, the variant was documented in skin fibroblasts as well as hair bulb and buccal epithelial cell specimens, supporting the germline nature of the mutation. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the S54L mutant accumulated as unphosphorylated protein, in contrast to cells expressing wildtype MAF, in which unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype, and treatment with cyclohexamide confirmed that the half-life of wildtype MAF was much shorter than that of the S54L mutant. Gene expression profiling analyses revealed that approximately 6% of genes in patient fibroblasts were expressed differentially compared to control fibroblasts, with an overrepresentation of genes associated with developmental programs and cellular processes. In a zebrafish model, the S54L mutation caused significant reduction in the size of the optic tectum compared to wildtype MAF, which did not induce appreciable brain volume differences. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25865493+8867660" 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="0006" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>.0006 AYME-GRIPP SYNDROME</strong>
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MAF, THR58ALA (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502767;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502767</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs727502767 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502767;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=rs727502767" 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=rs727502767" 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=RCV000149903" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149903" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149903</a>
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<p>In a 27-year-old woman with Ayme-Gripp syndrome (AYGRP; <a href="/entry/601088">601088</a>), originally reported by <a href="#5" class="mim-tip-reference" title="Gripp, K. W., Nicholson, L., Scott, C. I., Jr. <strong>Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.</strong> Am. J. Med. Genet. 61: 382-386, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834052</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8834052">Gripp et al. (1996)</a>, <a href="#14" class="mim-tip-reference" title="Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others. <strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong> Am. J. Hum. Genet. 96: 816-825, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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/10.1016/j.ajhg.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25865493">Niceta et al. (2015)</a> identified heterozygosity for a de novo c.172A-G transition (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502767;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502767</a>) in the MAF gene, resulting in a thr58-to-ala (T58A) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. The mutation, which was not found in her parents, was documented in patient buccal epithelial cells, supporting the germline nature of the mutation. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the T58A mutant accumulated as unphosphorylated protein, in contrast to cells expressing wildtype MAF, in which unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype, and treatment with cyclohexamide confirmed that the half-life of wildtype MAF was much shorter than that of the T58A mutant. In a zebrafish model, the T58A mutation caused significant reduction in the size of the optic tectum compared to wildtype MAF, which did not induce appreciable brain volume differences. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25865493+8834052" 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="0007" class="mim-anchor"></a>
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<strong>.0007 AYME-GRIPP SYNDROME</strong>
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MAF, THR58ILE (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502769;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502769</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs727502769 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502769;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=rs727502769" 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=rs727502769" 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=RCV000149904 OR RCV000254853" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149904, RCV000254853" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149904...</a>
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<p>In a Japanese boy with Ayme-Gripp syndrome (AYGRP; <a href="/entry/601088">601088</a>), originally reported by <a href="#12" class="mim-tip-reference" title="Nakane, T., Mizobe, N., Hayashibe, H., Nakazawa, S. <strong>A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis.</strong> Clin. Dysmorph. 11: 195-198, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12072800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12072800</a>] [<a href="https://doi.org/10.1097/00019605-200207000-00009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12072800">Nakane et al. (2002)</a>, <a href="#14" class="mim-tip-reference" title="Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others. <strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong> Am. J. Hum. Genet. 96: 816-825, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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/10.1016/j.ajhg.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25865493">Niceta et al. (2015)</a> identified heterozygosity for a c.173C-T transition (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502769;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502769</a>) in the MAF gene, resulting in a thr58-to-ile (T58I) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. Parental DNA was unavailable for study. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the T58I mutant accumulated as unphosphorylated protein, in contrast to cells expressing wildtype MAF, in which unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25865493+12072800" 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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MAF, PRO59HIS (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502770;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502770</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs727502770 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502770;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=rs727502770" 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=rs727502770" 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=RCV000149905" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149905" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149905</a>
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<p>In a girl with Ayme-Gripp syndrome (AYGRP; <a href="/entry/601088">601088</a>), originally reported by <a href="#9" class="mim-tip-reference" title="Keppler-Noreuil, K., Welch, J., Baker-Lange, K. <strong>Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases.</strong> Am. J. Med. Genet. 143A: 2581-2587, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935251</a>] [<a href="https://doi.org/10.1002/ajmg.a.31990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17935251">Keppler-Noreuil et al. (2007)</a>, <a href="#14" class="mim-tip-reference" title="Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others. <strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong> Am. J. Hum. Genet. 96: 816-825, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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/10.1016/j.ajhg.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25865493">Niceta et al. (2015)</a> identified heterozygosity for a de novo c.176C-A transversion (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502770;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502770</a>) in the MAF gene, resulting in a pro59-to-his (P59H) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. The mutation was not found in her parents. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the P59H mutant accumulated as unphosphorylated protein, in contrast to cells expressing wildtype MAF, in which the phosphorylated protein dominated and unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25865493+17935251" 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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MAF, PRO59LEU (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502770;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502770</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs727502770 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502770;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=rs727502770" 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=rs727502770" 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=RCV000149906" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149906" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149906</a>
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<p>In a 5-year-old girl with Ayme-Gripp syndrome (AYGRP; <a href="/entry/601088">601088</a>), <a href="#14" class="mim-tip-reference" title="Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others. <strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong> Am. J. Hum. Genet. 96: 816-825, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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/10.1016/j.ajhg.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25865493">Niceta et al. (2015)</a> identified heterozygosity for a de novo c.176C-T transition (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502770;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502770</a>) in the MAF gene, resulting in a pro59-to-leu (P59L) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. The mutation was not found in her parents. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the P59L mutant accumulated as unphosphorylated protein, in contrast to cells expressing wildtype MAF, in which unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype, and treatment with cyclohexamide confirmed that the half-life of wildtype MAF was much shorter than that of the P59L mutant. In a zebrafish model, the P59L mutation caused significant reduction in the size of the optic tectum compared to wildtype MAF, which did not induce appreciable brain volume differences. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25865493" 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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MAF, PRO69ARG (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502768;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502768</a>)
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs727502768 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502768;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=rs727502768" 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=rs727502768" 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=RCV000149908 OR RCV000413144" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000149908, RCV000413144" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000149908...</a>
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<p>In a 33-year-old man with Ayme-Gripp syndrome (AYGRP; <a href="/entry/601088">601088</a>), originally reported by <a href="#5" class="mim-tip-reference" title="Gripp, K. W., Nicholson, L., Scott, C. I., Jr. <strong>Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.</strong> Am. J. Med. Genet. 61: 382-386, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834052</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8834052">Gripp et al. (1996)</a>, <a href="#14" class="mim-tip-reference" title="Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others. <strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong> Am. J. Hum. Genet. 96: 816-825, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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/10.1016/j.ajhg.2015.03.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25865493">Niceta et al. (2015)</a> identified heterozygosity for a de novo c.206C-G transversion (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs727502768;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs727502768</a>) in the MAF gene, resulting in a pro69-to-arg (P69R) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. The mutation, which was not found in his parents, was documented in patient epithelial cells and fibroblasts, supporting the germline nature of the mutation. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the P69R mutant showed only partial phosphorylation in contrast to cells expressing wildtype MAF, in which unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype, and treatment with cyclohexamide confirmed that the half-life of wildtype MAF was shorter than that of the P69R mutant. Gene expression profiling analyses revealed that approximately 6% of genes in patient fibroblasts were expressed differentially compared to control fibroblasts, with an overrepresentation of genes associated with developmental programs and cellular processes. In a zebrafish model, the P69R mutation caused significant reduction in the size of the optic tectum compared to wildtype MAF, which did not induce appreciable brain volume differences. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25865493+8834052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Ayme, S., Philip, N.
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<strong>Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.</strong>
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Clin. Dysmorph. 5: 55-60, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8867660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8867660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8867660" 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/10.1097/00019605-199601000-00008" target="_blank">Full Text</a>]
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|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Aziz2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Aziz, A., Soucie, E., Sarrazin, S., Sieweke, M. H.
|
|
<strong>MafB/c-Maf deficiency enables self-renewal of differentiated functional macrophages.</strong>
|
|
Science 326: 867-871, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19892988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19892988</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19892988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.1176056" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Blank1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Blank, V., Andrews, N. C.
|
|
<strong>The Maf transcription factors: regulators of differentiation.</strong>
|
|
Trends Biochem. Sci. 22: 437-441, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9397686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9397686</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9397686" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0968-0004(97)01105-5" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Chihara2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chihara, N., Madi, A., Kondo, T., Zhang, H., Acharya, N., Singer, M., Nyman, J., Marjanovic, N. D., Kowalczyk, M. S., Wang, C., Kurtulus, S., Law, T., and 9 others.
|
|
<strong>Induction and transcriptional regulation of the co-inhibitory gene module in T cells.</strong>
|
|
Nature 558: 454-459, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29899446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29899446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29899446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/s41586-018-0206-z" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Gripp1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gripp, K. W., Nicholson, L., Scott, C. I., Jr.
|
|
<strong>Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.</strong>
|
|
Am. J. Med. Genet. 61: 382-386, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8834052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8834052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8834052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Hansen2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hansen, L., Eiberg, H., Rosenberg, T.
|
|
<strong>Novel MAF mutation in a family with congenital cataract-microcornea syndrome.</strong>
|
|
Molec. Vision 13: 2019-2022, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17982426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17982426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17982426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Ho1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ho, I.-C., Lo, D., Glimcher, L. H.
|
|
<strong>c-maf promotes T helper cell type 2 (Th2) and attenuates Th1 differentiation by both interleukin 4-dependent and -independent mechanisms.</strong>
|
|
J. Exp. Med. 188: 1859-1866, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9815263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9815263</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9815263[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=9815263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1084/jem.188.10.1859" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Jamieson2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jamieson, R. V., Perveen, R., Kerr, B., Carette, M., Yardley, J., Heon, E., Wirth, M. G., van Heyningen, V., Donnai, D., Munier, F., Black, G. C. M.
|
|
<strong>Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.</strong>
|
|
Hum. Molec. Genet. 11: 33-42, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11772997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11772997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11772997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/11.1.33" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Keppler-Noreuil2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Keppler-Noreuil, K., Welch, J., Baker-Lange, K.
|
|
<strong>Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases.</strong>
|
|
Am. J. Med. Genet. 143A: 2581-2587, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17935251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17935251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17935251" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.31990" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Kim1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kim, J. I., Li, T., Ho, I. C., Grusby, M. J., Glimcher, L. H.
|
|
<strong>Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 3781-3785, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10097114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10097114</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10097114[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=10097114" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.96.7.3781" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Lyon2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lyon, M. F., Jamieson, R. V., Perveen, R., Glenister, P. H., Griffiths, R., Boyd, Y., Glimcher, L. H., Favor, J., Munier, F. L., Black, G. C. M.
|
|
<strong>A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding.</strong>
|
|
Hum. Molec. Genet. 12: 585-594, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12620964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12620964</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12620964" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Nakane2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nakane, T., Mizobe, N., Hayashibe, H., Nakazawa, S.
|
|
<strong>A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis.</strong>
|
|
Clin. Dysmorph. 11: 195-198, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12072800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12072800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12072800" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1097/00019605-200207000-00009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Narumi2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Narumi, Y., Nishina, S., Tokimitsu, M., Aoki, Y., Kosaki, R., Wakui, K., Azuma, N., Murata, T., Takada, F., Fukushima, Y., Kosho, T.
|
|
<strong>Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.</strong>
|
|
Am. J. Med. Genet. 164A: 1272-1276, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24664492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24664492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24664492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.a.36433" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Niceta2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others.
|
|
<strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong>
|
|
Am. J. Hum. Genet. 96: 816-825, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25865493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25865493</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25865493[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=25865493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajhg.2015.03.001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Nishizawa1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nishizawa, M., Kataoka, K., Goto, N., Fujiwara, K. T., Kawai, S.
|
|
<strong>v-maf, a viral oncogene that encodes a 'leucine zipper' motif.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 7711-7715, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2554284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2554284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2554284" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.86.20.7711" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Perveen2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Perveen, R., Favor, J., Jamieson, R. V., Ray, D. W., Black, G. C. M.
|
|
<strong>A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.</strong>
|
|
Hum. Molec. Genet. 16: 1030-1038, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17374726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17374726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17374726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddm048" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Ranzani2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ranzani, V., Rossetti, G., Panzeri, I., Arrigoni, A., Bonnal, R. J. P., Curti, S., Gruarin, P., Provasi, E., Sugliano, E., Marconi, M., De Francesco, R., Geginat, J., Bodega, B., Abrignani, S., Pagani, M.
|
|
<strong>The long intergenic noncoding RNA landscape of human lymphocytes highlights the regulation of T cell differentiation by linc-MAF-4.</strong>
|
|
Nature Immun. 16: 318-325, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25621826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25621826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25621826[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=25621826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ni.3093" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Ring2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ring, B. Z., Cordes, S. P., Overbeek, P. A., Barsh, G. S.
|
|
<strong>Regulation of mouse lens fiber cell development and differentiation by the Maf gene.</strong>
|
|
Development 127: 307-317, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10603348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10603348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10603348" 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/10.1242/dev.127.2.307" target="_blank">Full Text</a>]
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</p>
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<a id="19" class="mim-anchor"></a>
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<a id="Sahali2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sahali, D., Pawlak, A., Valanciute, A., Grimbert, P., Lang, P., Remy, P., Bensman, A., Guellaen, G.
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|
<strong>A novel approach to investigation of the pathogenesis of active minimal-change nephrotic syndrome using subtracted cDNA library screening.</strong>
|
|
J. Am. Soc. Nephrol. 13: 1238-1247, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11961011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11961011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11961011" 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/10.1681/ASN.V1351238" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Sato2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sato, K., Miyoshi, F., Yokota, K., Araki, Y., Asanuma, Y., Akiyama, Y., Yoh, K., Takahashi, S., Aburatani, H., Mimura, T.
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<strong>Marked induction of c-Maf protein during Th17 cell differentiation and its implication in memory Th cell development.</strong>
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|
J. Biol. Chem. 286: 14963-14971, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21402704/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21402704</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21402704[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=21402704" 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/10.1074/jbc.M111.218867" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Shalhoub1974" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shalhoub, R. J.
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|
<strong>Pathogenesis of lipoid nephrosis: a disorder of T-cell function.</strong>
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Lancet 304: 556-560, 1974. Note: Originally Volume 2.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4140273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4140273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4140273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(74)91880-7" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Vanita2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vanita, V., Singh, D., Robinson, P. N., Sperling, K., Singh, J. R.
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<strong>A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family.</strong>
|
|
Am. J. Med. Genet. 140A: 558-566, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470690/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470690</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16470690" 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/10.1002/ajmg.a.31126" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Wende2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wende, H., Lechner, S. G., Cheret, C., Bourane, S., Kolanczyk, M. E., Pattyn, A., Reuter, K., Munier, F. L., Carroll, P., Lewin, G. R., Birchmeier, C.
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<strong>The transcription factor c-Maf controls touch receptor development and function.</strong>
|
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Science 335: 1373-1376, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22345400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22345400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22345400" 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.1214314" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Yoshida1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoshida, M. C., Nishizawa, M., Kataoka, K., Goto, N., Fujiwara, K. T., Kawai, S.
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<strong>Localization of the human MAF protooncogene on chromosome 16 to bands q22-q23. (Abstract)</strong>
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Cytogenet. Cell Genet. 58: 2003 only, 1991.
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 08/06/2018
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 6/5/2015<br>Marla J. F. O'Neill - updated : 4/29/2015<br>Matthew B. Gross - updated : 3/13/2015<br>Paul J. Converse - updated : 3/11/2015<br>Patricia A. Hartz - updated : 4/2/2012<br>Marla J. F. O'Neill - updated : 1/20/2011<br>Ada Hamosh - updated : 12/29/2009<br>Marla J. F. O'Neill - updated : 6/21/2006<br>Paul J. Converse - updated : 5/11/2006<br>George E. Tiller - updated : 2/15/2005<br>George E. Tiller - updated : 9/6/2002<br>Victor A. McKusick - updated : 1/28/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 8/6/1991
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 10/18/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/06/2018<br>alopez : 06/16/2016<br>joanna : 2/10/2016<br>carol : 12/30/2015<br>carol : 6/5/2015<br>mcolton : 6/5/2015<br>carol : 6/5/2015<br>alopez : 5/6/2015<br>mcolton : 4/29/2015<br>mgross : 3/13/2015<br>mcolton : 3/11/2015<br>carol : 6/13/2013<br>mgross : 4/4/2012<br>terry : 4/2/2012<br>wwang : 2/2/2011<br>terry : 1/20/2011<br>alopez : 1/5/2010<br>terry : 12/29/2009<br>terry : 4/8/2009<br>wwang : 6/22/2006<br>wwang : 6/21/2006<br>terry : 6/21/2006<br>mgross : 5/11/2006<br>wwang : 2/21/2005<br>wwang : 2/17/2005<br>terry : 2/15/2005<br>cwells : 9/6/2002<br>carol : 10/27/1999<br>mark : 2/9/1998<br>mark : 2/1/1998<br>terry : 1/28/1998<br>carol : 4/14/1992<br>supermim : 3/16/1992<br>carol : 2/23/1992<br>carol : 8/6/1991
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 177075
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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MAF bZIP TRANSCRIPTION FACTOR; MAF
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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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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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V-MAF AVIAN MUSCULOAPONEUROTIC FIBROSARCOMA ONCOGENE HOMOLOG<br />
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PROTOONCOGENE MAF
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MAF</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 16q23.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 16:79,202,622-79,600,737 </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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16q23.2
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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Ayme-Gripp syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
601088
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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 dominant
|
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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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Cataract 21, multiple types
|
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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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610202
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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 dominant
|
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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>
|
|
</span>
|
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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|
<p>MAF encodes a transcription factor involved in T-helper-2 (Th2) cell differentiation. MAF is also required for efficient development of Th17 cells, and it controls transcription of the gene encoding interleukin-4 (IL4; 147780) in CD4 (186940)-positive follicular helper T cells (summary by Ranzani et al., 2015). </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>
|
|
<span class="mim-font">
|
|
<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">
|
|
<p>Nishizawa et al. (1989) identified in the human genome a cellular analog of v-maf which was isolated from the provirus of the avian musculoaponeurotic fibrosarcoma virus AS42. The deduced amino acid sequence of the v-maf gene product contains a leucine zipper motif similar to that found in a number of DNA-binding proteins, including the gene products of the FOS (164810), JUN (165160), and MYC (190080) oncogenes. </p><p>Ring et al. (2000) cloned mouse Maf, which encodes a deduced 370-amino acid protein. In situ hybridization and X-gal staining of mouse embryos revealed widespread Maf expression, including in perichondrium of axial and appendicular skeleton, forebrain, kidney, and developing eye. Maf expression was first detected in eye between embryonic days 10.5 and 11, when posterior cells of the lens vesicle begin to differentiate into elongated primary lens fiber cells. </p><p>By screening for genes expressed in mouse nervous system, Wende et al. (2012) found that Maf was expressed in neurons of rapidly-adapting mechanoreceptors of the lumbar dorsal root ganglia (DRG). Maf expression started around embryonic day 11. Immunohistochemical analysis revealed similar MAF expression in human DRG. </p><p>Niceta et al. (2015) performed immunohistochemical analysis of mouse embryos and confirmed previously reported widespread Maf staining in the lens, dorsal spinal cord, dorsal root ganglia, skin, kidney, hypertrophic chondrocytes of vertebrae, rib and limb cartilage, and the cartilage primordium of the basioccipital bone. Niceta et al. (2015) detected a specific and strong signal in cochlear cells of E14.5 embryos. </p>
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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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<span class="mim-text-font">
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<p>Through the use of a cDNA probe for in situ hybridization, Yoshida et al. (1991) localized the MAF gene to chromosome 16q22-q23. Jamieson et al. (2002) reported that the MAF gene maps to chromosome 16q23.2. </p>
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</span>
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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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<span class="mim-text-font">
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<p>Blank and Andrews (1997) reviewed the MAF transcription factors, a unique subclass of basic-leucine zipper transcription (bZIP) factors. Members of the MAF family appear to play important roles in the regulation of differentiation. </p><p>Minimal change nephrotic syndrome (MCNS), also known as lipoid nephrosis, is a glomerular disease characterized by heavy proteinuria that remits with abatement of cell-mediated immunity. Shalhoub (1974) postulated that MCNS results from abnormal T-cell activation. By subtractive cloning and differential screening analyses using MCNS patient T lymphocytes, Sahali et al. (2002) identified a number of genes differentially regulated in MCNS. The findings suggested that MCNS relapse might be associated with a Th2 response, in part due to downregulation of IL12RB2 (601642), a Th1-associated cytokine receptor, and selective recruitment of MAF, which promotes Th2 responses. </p><p>Aziz et al. (2009) reported that combined deficiency for the transcription factors MafB and c-Maf enables extended expansion of mature monocytes and macrophages in culture without loss of differentiated phenotype and function. Upon transplantation, the expanded cells are nontumorigenic and contribute to functional macrophage populations in vivo. Small hairpin RNA inactivation showed that continuous proliferation of MafB/c-Maf-deficient macrophages requires concomitant upregulation of 2 pluripotent stem cell-inducing factors, KLF4 (602253) and c-Myc. Aziz et al. (2009) concluded that MafB/c-Maf deficiency renders self-renewal compatible with terminal differentiation. It thus appears possible to amplify functional differentiated cells without malignant transformation or stem cell intermediates. </p><p>Sato et al. (2011) reported that Maf was highly expressed in mouse Th2 and Th17 cells, whereas Gata3 (131320) was only expressed in Th2 cells. Luciferase analysis showed that Maf induced Il23r (607562) promoter activity, likely via binding to a MAF recognition element (MARE) within the promoter. Sato et al. (2011) concluded that MAF is a versatile transcription factor that is involved in the development and/or maintenance of memory Th cells, particularly Th17 cells. </p><p>MFTRR (616264) is a chromatin-associated long intergenic noncoding RNA (lincRNA) specific to CD4-positive Th1 cells. Ranzani et al. (2015) found that expression of the neighboring genes MAF and MFTRR was inversely correlated, with Th1 cells showing high expression of MFTRR and low expression of MAF, and Th2 and Th17 cells showing low expression of MFTRR and high expression of MAF. Knockdown of MAFTRR via small interfering RNA in activated CD4-positive naive T cells led to increased MAF expression. Th2 cells showed increased RNA polymerase II binding and increased abundance of histone trimethylated at lys4 in the MAF promoter region compared with Th1 cells. RNA immunoprecipitation analysis detected interaction of MFTRR with the chromatin modifiers EZH2 (601573) and LSD1 (KDM1A; 609132). Knockdown of MFTRR was associated with reduced abundance of EZH2 and LSD1 and decreased EZH2 enzyme activity at the MAF promoter. Ranzani et al. (2015) concluded that there is a long-distance interaction between the genomic regions of MFTRR and MAF, with MFTRR acting as a scaffold to recruit EZH2 and LSD1 and to modulate EZH2 enzyme activity at the MAF promoter, thus regulating MAF transcription. </p><p>Using RNA and protein expression profiling at single-cell resolution in mouse cells, Chihara et al. (2018) identified a module of coinhibitory receptors that includes not only several known coinhibitory receptors but many novel surface receptors. Chihara et al. (2018) functionally validated 2 novel coinhibitory receptors, activated protein C receptor (PROCR; 600646) and podoplanin (PDPN; 608863). The module of coinhibitory receptors is coexpressed in both CD4+ and CD8+ T cells and is part of a larger coinhibitory gene program that is shared by nonresponsive T cells in several physiologic contexts and is driven by the immunoregulatory cytokine IL27 (608273). Computational analysis identified the transcription factors PRDM1 (603423) and c-MAF as cooperative regulators of the coinhibitory module, and this was validated experimentally. This molecular circuit underlies the coexpression of coinhibitory receptors in T cells and identifies regulators of T cell function with the potential to control autoimmunity and tumor immunity. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Jamieson et al. (2002) identified a family where ocular developmental abnormalities cosegregated with a translocation, t(5;16)(p15.3;q23.2), in both balanced and unbalanced forms. Cloning the 16q23.2 breakpoint demonstrated that it transected the genomic-control domain of MAF. The 16q23.2 breakpoint also transected the common fragile site FRA16D (see 605131), providing a molecular demonstration of a germline break in a common fragile site. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p><strong><em>Cataract 21, Multiple Types</em></strong></p><p>
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Through mutation screening of a panel of patients with hereditary congenital cataract, Jamieson et al. (2002) identified a mutation in the MAF gene (177075.0001) in a 3-generation family with autosomal dominant juvenile-onset pulverulent cataract (CTRCT21; 610202). </p><p>In a 3-generation family with cerulean congenital cataract, Vanita et al. (2006) sequenced the MAF gene and identified a heterozygous missense mutation in the MAF gene (177075.0002) that cosegregated with the disease. The mutation was not found in 106 unrelated controls. </p><p>In 3 families and 1 sporadic patient with cataract and microcornea, Hansen et al. (2007) analyzed 13 lens-expressed cataract genes and identified heterozygosity for a missense mutation in the MAF gene (R299S; 177075.0003) in 1 family. Hansen et al. (2007) noted that all 3 of the reported cataract-associated MAF mutations are located in the basic region of the DNA-binding domain in alpha-helix-3, suggestive of a mutational hotspot. </p><p>In affected members of a 3-generation Japanese family who had congenital cataract with or without microcornea, Narumi et al. (2014) performed whole-exome sequencing and identified a heterozygous missense mutation in the MAF gene (Q303P; 177075.0004). </p><p><strong><em>Ayme-Gripp Syndrome</em></strong></p><p>
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In 8 unrelated patients with congenital cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies (Ayme-Gripp syndrome; 601088), Niceta et al. (2015) identified heterozygosity for de novo missense mutations in the MAF gene (see, e.g., 177075.0005-177075.0010). Functional analyses demonstrated that all Ayme-Gripp-associated mutants accumulated in cells as unphosphorylated proteins, in sharp contrast to cells expressing wildtype MAF or the cataract-associated R288P mutant (177075.0001), in which the phosphorylated protein dominated and unphosphorylated MAF was barely detectable. In a zebrafish model, Niceta et al. (2015) used measurement of the optic tectum as a surrogate for brain volume, reduction in which correlates with neurodevelopmental defects in humans. They found that Ayme-Gripp-associated mutations caused a statistically significant reduction in the size of the optic tectum, compared to wildtype MAF or the R288P mutant, which did not induce appreciable brain volume differences. </p>
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</span>
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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>By generating healthy mice overexpressing mouse Maf in immature and mature T cells, Ho et al. (1998) confirmed that Maf transactivates expression of Il4. Levels of serum IgE and IgG1, but not Ifng (147570)-dependent IgG2a, were higher in transgenic mice than in their wildtype littermates. Splenocytes derived from Maf-transgenic mice, in a gene dose-dependent manner, differentiated into Th2 cells, whereas wildtype splenocytes under the same conditions became Th1 cells. Splenocytes from Maf-transgenic mice lacking Il4 failed to undergo Th2 differentiation, but they could differentiate into Th1 cells. Maf overexpression alone was insufficient to induce Il4 production by normal Th1 cells. Ho et al. (1998) concluded that overexpression of MAF skews the Th response to a Th2 type via IL4-dependent and -independent mechanisms. </p><p>Kim et al. (1999) demonstrated that the homozygous null mutant Maf mouse embryo exhibits defective lens formation and microphthalmia. </p><p>Ring et al. (2000) found that Maf -/- mouse embryos exhibited a slightly foreshortened head and abnormal lens development, and that nearly all died within a few hours of birth. The 1 surviving animal exhibited microphthalmia, followed by cutaneous closure of the ocular chamber. Fiber cell differentiation and elongation ceased by embryonic day 12.5 in Maf -/- lens, with persistence of a hollow lens vesicle and absence of alpha-crystallin (see CRYAA; 123580) expression. Cells at the equatorial zone of the lens withdrew from the cell cycle and began to express fiber cell-specific proteins, but they failed to elongate and differentiate normally. After embryonic day 16.5, the mutant vesicle became progressively deformed. Ring et al. (2000) identified functional MAF-binding sites in the promoter regions of mouse alpha-A-crystallin (CRYAA), mouse beta-B2 crystallin (CRYBB2; 123620), and human beta-A4-crystallin (CRYBA4; 123631). They concluded that Maf deficiency causes a profound defect in early maturation of primary and secondary lens fiber cells. </p><p>Lyon et al. (2003) reported a mouse mutant which in the heterozygous state exhibits mild pulverulent cataract named 'opaque flecks in lens' (Ofl). The mutant was shown to be allelic with a knockout of Maf. Homozygotes for Ofl and for Maf null mutations were similar except for the addition of renal tubular nephritis in surviving Ofl homozygotes. Sequencing identified the mutation as a 1803G-A transition, leading to an arg291-to-gln (R291Q) substitution in the basic region of the DNA-binding domain. Since mice heterozygous for Maf knockouts showed no cataracts, the authors suggested that the Ofl R291Q mutant protein may have a dominant effect. The mutation also resulted in a selective alteration in DNA binding affinities to target oligonucleotides containing variations in core CRE and TRE elements. The authors hypothesized that arginine-291 may be important for core element binding and suggested that the mutant protein may exert a differential downstream effect among its binding targets. </p><p>By ethylnitrosourea (ENU) mutagenesis, Perveen et al. (2007) identified a semidominant mouse c-Maf mutation, resulting in a asp90-to-val (D90V) substitution at a highly conserved residue within the N-terminal minimal transactivation domain (MTD). The phenotype of D90V homozygotes was isolated cataract. Functional analysis revealed that the D90V mutation results in increased promoter activation and enhances p300 (602700) recruitment in a cell type-dependent manner. Perveen et al. (2007) observed similar enhancement of p300 interaction with the S50T mutation in the MTD of the NRL gene (162080.0001), which suggests a common mechanism of action. </p><p>Wende et al. (2012) found that conditional knockout of Maf in mouse DRG cells disrupted the architecture and function of several rapidly adapting mechanoreceptor subtypes. Pacinian corpuscles, specialized to detect high-frequency vibrations, were severely atrophied, with loss of innervating axons. In vitro skin-saphenous nerve preparations of Maf-knockout mice revealed abnormal fire response to mechanical stimuli. </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>ALLELIC VARIANTS</strong>
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</span>
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<strong>10 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 CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA</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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MAF, ARG288PRO
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<br />
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SNP: rs121917735,
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gnomAD: rs121917735,
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ClinVar: RCV000014136
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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 5 affected members of a 3-generation family with autosomal dominant juvenile-onset cataract (CTRCT21; 610202), Jamieson et al. (2002) identified a 1670G-C transversion in the MAF gene, resulting in an arg288-to-pro (R288P) substitution in the basic region of the DNA-binding domain of MAF, predicted to cause an abnormal helical conformation. The cataracts were cortical pulverulent opacities in a lamellar distribution. Nuclear pulverulent opacities were present in 2 cases. Later progression with posterior subcapsular opacification necessitated surgery in adult life. Two of the 5 affected individuals had microcornea, and 1 also had bilateral iris colobomas. The mutation was not found in 217 other subjects with a range of eye anomalies or in 496 normal control chromosomes. </p><p>Wende et al. (2012) tested vibrotactile acuity over a wide range of frequencies in 4 affected members of the family originally studied by Jamieson et al. (2002). The authors found that the skin of individuals with the R288P substitution displayed reduced acuity to high-frequency vibration compared to normal controls. </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 CATARACT 21, CERULEAN, WITH OR WITHOUT MICROCORNEA</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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MAF, LYS297ARG
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<br />
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SNP: rs121917736,
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ClinVar: RCV000014137
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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 12 affected members of a 3-generation family with congenital cerulean cataract, 6 of whom also had microcornea (CTRCT21; 610202), Vanita et al. (2006) identified heterozygosity for an 890A-G transition in the MAF gene, resulting in the replacement of a highly conserved lys297 with arg (K297R) in a basic region of the DNA-binding domain of the protein. The mutation was not found in 106 unrelated controls. </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 CATARACT 21, MULTIPLE TYPES, WITH MICROCORNEA</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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MAF, ARG299SER
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<br />
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SNP: rs786205221,
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ClinVar: RCV000170458, RCV002223802
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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 members spanning 3 generations of a family (CCMC0112) with cataract and microcornea (CTRCT21; 610202), Hansen et al. (2007) identified heterozygosity for a c.895C-A transversion in exon 1 of the MAF gene, resulting in an arg299-to-ser (R299S) substitution at a highly conserved residue within the alpha-helix-3 of the regulatory domain, predicted to destroy the basic region of the DNA-binding domain of the MAF leucine zipper. The mutation, which segregated with disease in the family, was not found in 152 controls. Affected individuals were diagnosed with posterior polar, nuclear lamellar, and nuclear stellate cataracts, and 1 patient also had unilateral iris coloboma. </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 CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA</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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MAF, GLN303PRO
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<br />
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SNP: rs786205222,
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ClinVar: RCV000170459
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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 6 affected members of a 3-generation Japanese family with cataract with or without microcornea (CTRCT21; 610202), Narumi et al. (2014) identified heterozygosity for a c.908A-C transversion in the MAF gene, resulting in a gln303-to-pro (Q303P) substitution at a highly conserved residue in the basic region. (Narumi et al. (2014) reported the mutation as Q303L in the abstract and on p. 1274 but as Q303P elsewhere.) The mutation, which segregated with disease in the family, was not found in 200 Japanese control alleles or in the NHLBI Exome Sequencing Project database. Affected individuals had lamellar, anterior polar, nuclear, and anterior subcapsular cataracts; additional ocular features included microcornea in 3 patients, as well as iris coloboma, mild macular hypoplasia, and retinal detachment in 1 patient each. </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>.0005 AYME-GRIPP SYNDROME</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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MAF, SER54LEU ({dbSNP rs727502766})
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<br />
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SNP: rs727502766,
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ClinVar: RCV000149902, RCV003153434, RCV004754316
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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 unrelated women with Ayme-Gripp syndrome (AYGRP; 601088), 1 of whom was originally reported by Ayme and Philip (1996), Niceta et al. (2015) identified heterozygosity for a de novo c.161C-T transition (rs727502766) in the MAF gene, resulting in a ser54-to-leu (S54L) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. The mutation was not found in any of the parents. In 1 of the probands, the variant was documented in skin fibroblasts as well as hair bulb and buccal epithelial cell specimens, supporting the germline nature of the mutation. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the S54L mutant accumulated as unphosphorylated protein, in contrast to cells expressing wildtype MAF, in which unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype, and treatment with cyclohexamide confirmed that the half-life of wildtype MAF was much shorter than that of the S54L mutant. Gene expression profiling analyses revealed that approximately 6% of genes in patient fibroblasts were expressed differentially compared to control fibroblasts, with an overrepresentation of genes associated with developmental programs and cellular processes. In a zebrafish model, the S54L mutation caused significant reduction in the size of the optic tectum compared to wildtype MAF, which did not induce appreciable brain volume differences. </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>.0006 AYME-GRIPP SYNDROME</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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MAF, THR58ALA ({dbSNP rs727502767})
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<br />
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SNP: rs727502767,
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ClinVar: RCV000149903
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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 27-year-old woman with Ayme-Gripp syndrome (AYGRP; 601088), originally reported by Gripp et al. (1996), Niceta et al. (2015) identified heterozygosity for a de novo c.172A-G transition (rs727502767) in the MAF gene, resulting in a thr58-to-ala (T58A) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. The mutation, which was not found in her parents, was documented in patient buccal epithelial cells, supporting the germline nature of the mutation. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the T58A mutant accumulated as unphosphorylated protein, in contrast to cells expressing wildtype MAF, in which unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype, and treatment with cyclohexamide confirmed that the half-life of wildtype MAF was much shorter than that of the T58A mutant. In a zebrafish model, the T58A mutation caused significant reduction in the size of the optic tectum compared to wildtype MAF, which did not induce appreciable brain volume differences. </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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0007 AYME-GRIPP SYNDROME</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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MAF, THR58ILE ({dbSNP rs727502769})
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<br />
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SNP: rs727502769,
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ClinVar: RCV000149904, RCV000254853
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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 Japanese boy with Ayme-Gripp syndrome (AYGRP; 601088), originally reported by Nakane et al. (2002), Niceta et al. (2015) identified heterozygosity for a c.173C-T transition (rs727502769) in the MAF gene, resulting in a thr58-to-ile (T58I) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. Parental DNA was unavailable for study. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the T58I mutant accumulated as unphosphorylated protein, in contrast to cells expressing wildtype MAF, in which unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype. </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>.0008 AYME-GRIPP SYNDROME</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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MAF, PRO59HIS ({dbSNP rs727502770})
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<br />
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SNP: rs727502770,
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ClinVar: RCV000149905
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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 girl with Ayme-Gripp syndrome (AYGRP; 601088), originally reported by Keppler-Noreuil et al. (2007), Niceta et al. (2015) identified heterozygosity for a de novo c.176C-A transversion (rs727502770) in the MAF gene, resulting in a pro59-to-his (P59H) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. The mutation was not found in her parents. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the P59H mutant accumulated as unphosphorylated protein, in contrast to cells expressing wildtype MAF, in which the phosphorylated protein dominated and unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype. </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>.0009 AYME-GRIPP SYNDROME</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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MAF, PRO59LEU ({dbSNP rs727502770})
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<br />
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SNP: rs727502770,
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ClinVar: RCV000149906
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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 5-year-old girl with Ayme-Gripp syndrome (AYGRP; 601088), Niceta et al. (2015) identified heterozygosity for a de novo c.176C-T transition (rs727502770) in the MAF gene, resulting in a pro59-to-leu (P59L) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. The mutation was not found in her parents. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the P59L mutant accumulated as unphosphorylated protein, in contrast to cells expressing wildtype MAF, in which unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype, and treatment with cyclohexamide confirmed that the half-life of wildtype MAF was much shorter than that of the P59L mutant. In a zebrafish model, the P59L mutation caused significant reduction in the size of the optic tectum compared to wildtype MAF, which did not induce appreciable brain volume differences. </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>.0010 AYME-GRIPP SYNDROME</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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MAF, PRO69ARG ({dbSNP rs727502768})
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<br />
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SNP: rs727502768,
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ClinVar: RCV000149908, RCV000413144
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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 33-year-old man with Ayme-Gripp syndrome (AYGRP; 601088), originally reported by Gripp et al. (1996), Niceta et al. (2015) identified heterozygosity for a de novo c.206C-G transversion (rs727502768) in the MAF gene, resulting in a pro69-to-arg (P69R) substitution at a highly conserved residue within a GSK3 phosphorylation motif in the N-terminal transactivation domain. The mutation, which was not found in his parents, was documented in patient epithelial cells and fibroblasts, supporting the germline nature of the mutation. Western blot analysis of transiently transfected COS-1 cell lysates demonstrated that the P69R mutant showed only partial phosphorylation in contrast to cells expressing wildtype MAF, in which unphosphorylated MAF was barely detectable. In addition, there were increased mutant protein levels and decreased ubiquitination compared to wildtype, and treatment with cyclohexamide confirmed that the half-life of wildtype MAF was shorter than that of the P69R mutant. Gene expression profiling analyses revealed that approximately 6% of genes in patient fibroblasts were expressed differentially compared to control fibroblasts, with an overrepresentation of genes associated with developmental programs and cellular processes. In a zebrafish model, the P69R mutation caused significant reduction in the size of the optic tectum compared to wildtype MAF, which did not induce appreciable brain volume differences. </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>REFERENCES</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ayme, S., Philip, N.
|
|
<strong>Fine-Lubinsky syndrome: a fourth patient with brachycephaly, deafness, cataract, microstomia and mental retardation.</strong>
|
|
Clin. Dysmorph. 5: 55-60, 1996.
|
|
|
|
|
|
[PubMed: 8867660]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00019605-199601000-00008]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Aziz, A., Soucie, E., Sarrazin, S., Sieweke, M. H.
|
|
<strong>MafB/c-Maf deficiency enables self-renewal of differentiated functional macrophages.</strong>
|
|
Science 326: 867-871, 2009.
|
|
|
|
|
|
[PubMed: 19892988]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1176056]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Blank, V., Andrews, N. C.
|
|
<strong>The Maf transcription factors: regulators of differentiation.</strong>
|
|
Trends Biochem. Sci. 22: 437-441, 1997.
|
|
|
|
|
|
[PubMed: 9397686]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0968-0004(97)01105-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chihara, N., Madi, A., Kondo, T., Zhang, H., Acharya, N., Singer, M., Nyman, J., Marjanovic, N. D., Kowalczyk, M. S., Wang, C., Kurtulus, S., Law, T., and 9 others.
|
|
<strong>Induction and transcriptional regulation of the co-inhibitory gene module in T cells.</strong>
|
|
Nature 558: 454-459, 2018.
|
|
|
|
|
|
[PubMed: 29899446]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/s41586-018-0206-z]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gripp, K. W., Nicholson, L., Scott, C. I., Jr.
|
|
<strong>Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation.</strong>
|
|
Am. J. Med. Genet. 61: 382-386, 1996.
|
|
|
|
|
|
[PubMed: 8834052]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hansen, L., Eiberg, H., Rosenberg, T.
|
|
<strong>Novel MAF mutation in a family with congenital cataract-microcornea syndrome.</strong>
|
|
Molec. Vision 13: 2019-2022, 2007.
|
|
|
|
|
|
[PubMed: 17982426]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ho, I.-C., Lo, D., Glimcher, L. H.
|
|
<strong>c-maf promotes T helper cell type 2 (Th2) and attenuates Th1 differentiation by both interleukin 4-dependent and -independent mechanisms.</strong>
|
|
J. Exp. Med. 188: 1859-1866, 1998.
|
|
|
|
|
|
[PubMed: 9815263]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1084/jem.188.10.1859]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jamieson, R. V., Perveen, R., Kerr, B., Carette, M., Yardley, J., Heon, E., Wirth, M. G., van Heyningen, V., Donnai, D., Munier, F., Black, G. C. M.
|
|
<strong>Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.</strong>
|
|
Hum. Molec. Genet. 11: 33-42, 2002.
|
|
|
|
|
|
[PubMed: 11772997]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/11.1.33]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Keppler-Noreuil, K., Welch, J., Baker-Lange, K.
|
|
<strong>Syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation: two additional cases.</strong>
|
|
Am. J. Med. Genet. 143A: 2581-2587, 2007.
|
|
|
|
|
|
[PubMed: 17935251]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.31990]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kim, J. I., Li, T., Ho, I. C., Grusby, M. J., Glimcher, L. H.
|
|
<strong>Requirement for the c-Maf transcription factor in crystallin gene regulation and lens development.</strong>
|
|
Proc. Nat. Acad. Sci. 96: 3781-3785, 1999.
|
|
|
|
|
|
[PubMed: 10097114]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.96.7.3781]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lyon, M. F., Jamieson, R. V., Perveen, R., Glenister, P. H., Griffiths, R., Boyd, Y., Glimcher, L. H., Favor, J., Munier, F. L., Black, G. C. M.
|
|
<strong>A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding.</strong>
|
|
Hum. Molec. Genet. 12: 585-594, 2003.
|
|
|
|
|
|
[PubMed: 12620964]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nakane, T., Mizobe, N., Hayashibe, H., Nakazawa, S.
|
|
<strong>A variant of Fine-Lubinsky syndrome: a Japanese boy with profound deafness, cataracts, mental retardation, and brachycephaly without craniosynostosis.</strong>
|
|
Clin. Dysmorph. 11: 195-198, 2002.
|
|
|
|
|
|
[PubMed: 12072800]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1097/00019605-200207000-00009]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Narumi, Y., Nishina, S., Tokimitsu, M., Aoki, Y., Kosaki, R., Wakui, K., Azuma, N., Murata, T., Takada, F., Fukushima, Y., Kosho, T.
|
|
<strong>Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.</strong>
|
|
Am. J. Med. Genet. 164A: 1272-1276, 2014.
|
|
|
|
|
|
[PubMed: 24664492]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.36433]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Niceta, M., Stellacci, E., Gripp, K. W., Zampino, G., Kousi, M., Anselmi, M., Traversa, A., Ciolfi, A., Stabley, D., Bruselles, A., Caputo, V., Cecchetti, S., and 19 others.
|
|
<strong>Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a Down syndrome-like facies.</strong>
|
|
Am. J. Hum. Genet. 96: 816-825, 2015.
|
|
|
|
|
|
[PubMed: 25865493]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2015.03.001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nishizawa, M., Kataoka, K., Goto, N., Fujiwara, K. T., Kawai, S.
|
|
<strong>v-maf, a viral oncogene that encodes a 'leucine zipper' motif.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 7711-7715, 1989.
|
|
|
|
|
|
[PubMed: 2554284]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.86.20.7711]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Perveen, R., Favor, J., Jamieson, R. V., Ray, D. W., Black, G. C. M.
|
|
<strong>A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation.</strong>
|
|
Hum. Molec. Genet. 16: 1030-1038, 2007.
|
|
|
|
|
|
[PubMed: 17374726]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddm048]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ranzani, V., Rossetti, G., Panzeri, I., Arrigoni, A., Bonnal, R. J. P., Curti, S., Gruarin, P., Provasi, E., Sugliano, E., Marconi, M., De Francesco, R., Geginat, J., Bodega, B., Abrignani, S., Pagani, M.
|
|
<strong>The long intergenic noncoding RNA landscape of human lymphocytes highlights the regulation of T cell differentiation by linc-MAF-4.</strong>
|
|
Nature Immun. 16: 318-325, 2015.
|
|
|
|
|
|
[PubMed: 25621826]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ni.3093]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ring, B. Z., Cordes, S. P., Overbeek, P. A., Barsh, G. S.
|
|
<strong>Regulation of mouse lens fiber cell development and differentiation by the Maf gene.</strong>
|
|
Development 127: 307-317, 2000.
|
|
|
|
|
|
[PubMed: 10603348]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1242/dev.127.2.307]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sahali, D., Pawlak, A., Valanciute, A., Grimbert, P., Lang, P., Remy, P., Bensman, A., Guellaen, G.
|
|
<strong>A novel approach to investigation of the pathogenesis of active minimal-change nephrotic syndrome using subtracted cDNA library screening.</strong>
|
|
J. Am. Soc. Nephrol. 13: 1238-1247, 2002.
|
|
|
|
|
|
[PubMed: 11961011]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1681/ASN.V1351238]
|
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|
|
|
</p>
|
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</li>
|
|
|
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<li>
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<p class="mim-text-font">
|
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Sato, K., Miyoshi, F., Yokota, K., Araki, Y., Asanuma, Y., Akiyama, Y., Yoh, K., Takahashi, S., Aburatani, H., Mimura, T.
|
|
<strong>Marked induction of c-Maf protein during Th17 cell differentiation and its implication in memory Th cell development.</strong>
|
|
J. Biol. Chem. 286: 14963-14971, 2011.
|
|
|
|
|
|
[PubMed: 21402704]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M111.218867]
|
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|
|
|
|
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|
|
</li>
|
|
|
|
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|
|
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Shalhoub, R. J.
|
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<strong>Pathogenesis of lipoid nephrosis: a disorder of T-cell function.</strong>
|
|
Lancet 304: 556-560, 1974. Note: Originally Volume 2.
|
|
|
|
|
|
[PubMed: 4140273]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0140-6736(74)91880-7]
|
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|
|
|
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</p>
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|
|
|
|
<li>
|
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Vanita, V., Singh, D., Robinson, P. N., Sperling, K., Singh, J. R.
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<strong>A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant 'cerulean cataract' in an Indian family.</strong>
|
|
Am. J. Med. Genet. 140A: 558-566, 2006.
|
|
|
|
|
|
[PubMed: 16470690]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.a.31126]
|
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Wende, H., Lechner, S. G., Cheret, C., Bourane, S., Kolanczyk, M. E., Pattyn, A., Reuter, K., Munier, F. L., Carroll, P., Lewin, G. R., Birchmeier, C.
|
|
<strong>The transcription factor c-Maf controls touch receptor development and function.</strong>
|
|
Science 335: 1373-1376, 2012.
|
|
|
|
|
|
[PubMed: 22345400]
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[Full Text: https://doi.org/10.1126/science.1214314]
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Yoshida, M. C., Nishizawa, M., Kataoka, K., Goto, N., Fujiwara, K. T., Kawai, S.
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<strong>Localization of the human MAF protooncogene on chromosome 16 to bands q22-q23. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 58: 2003 only, 1991.
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Ada Hamosh - updated : 08/06/2018<br>Marla J. F. O'Neill - updated : 6/5/2015<br>Marla J. F. O'Neill - updated : 4/29/2015<br>Matthew B. Gross - updated : 3/13/2015<br>Paul J. Converse - updated : 3/11/2015<br>Patricia A. Hartz - updated : 4/2/2012<br>Marla J. F. O'Neill - updated : 1/20/2011<br>Ada Hamosh - updated : 12/29/2009<br>Marla J. F. O'Neill - updated : 6/21/2006<br>Paul J. Converse - updated : 5/11/2006<br>George E. Tiller - updated : 2/15/2005<br>George E. Tiller - updated : 9/6/2002<br>Victor A. McKusick - updated : 1/28/1998
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Victor A. McKusick : 8/6/1991
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