3129 lines
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Entry
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- *614144 - B9 DOMAIN-CONTAINING PROTEIN 1; B9D1
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- OMIM
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<p>
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<span class="h4">*614144</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</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/614144">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000108641;t=ENST00000261499" 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=27077" 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=614144" 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=ENSG00000108641;t=ENST00000261499" 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_001321214,NM_001321215,NM_001321216,NM_001321217,NM_001321218,NM_001321219,NM_001330149,NM_001368769,NM_015681,XM_005256610,XM_047435750,XM_047435751,XM_047435752,XM_047435753,XM_047435754,XM_047435755,XM_047435756" 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_015681" 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=614144" 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://www.proteinatlas.org/search/B9D1" 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/5668705,7661536,12804173,63089706,74725691,119571263,119571264,119571265,119571266,119571267,194375754,194387524,530410254,1007390291,1007390538,1007390838,1007390848,1007391404,1007393355,1054287451,1580257406,2217311113,2217311115,2217311117,2217311119,2217311121,2217311123,2217311126,2462554450,2462554452,2462554454,2462554456,2462554458,2462554460,2462554462,2462554464" 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/Q9UPM9" 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=27077" 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=ENSG00000108641;t=ENST00000261499" 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=B9D1" 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=B9D1" 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+27077" 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/B9D1" 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:27077" 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/27077" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr17&hgg_gene=ENST00000261499.11&hgg_start=19334695&hgg_end=19377913&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24123" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:24123" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614144[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=614144[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/B9D1/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/ENSG00000108641" 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=B9D1" 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=B9D1" 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=B9D1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=B9D1&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/PA162377328" 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:24123" 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/FBgn0038342.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:1351471" 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/B9D1#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:1351471" 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/27077/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=27077" 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=WBGene00019364;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-050522-467" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=B9D1&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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614144
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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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B9 DOMAIN-CONTAINING PROTEIN 1; B9D1
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</span>
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</h3>
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</div>
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<div>
|
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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MKS1-RELATED PROTEIN 1; MKSR1
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</span>
|
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</h4>
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</div>
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</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=B9D1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">B9D1</a></em></strong>
|
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/17/294?start=-3&limit=10&highlight=294">17p11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr17:19334695-19377913&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">17:19,334,695-19,377,913</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</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>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
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<a href="/clinicalSynopsis/table?mimNumber=614209,617120" 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>
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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>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/17/294?start=-3&limit=10&highlight=294">
|
|
17p11.2
|
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</a>
|
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</span>
|
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</td>
|
|
|
|
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<td>
|
|
<span class="mim-font">
|
|
?Meckel syndrome 9
|
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|
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<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614209"> 614209 </a>
|
|
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Joubert syndrome 27
|
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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/617120"> 617120 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
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<p>B9D1 belongs to a small family of proteins that also includes B9D2 (<a href="/entry/611951">611951</a>) and MKS1 (<a href="/entry/609883">609883</a>), and all 3 B9 domain-containing proteins associate with basal bodies and primary cilia in mammalian cells (<a href="#1" class="mim-tip-reference" title="Bialas, N. J., Inglis, P. N., Li, C., Robinson, J. F., Parker, J. D. K., Healey, M. P., Davis, E. E., Inglis, C. D., Toivonen, T., Cottell, D. C., Blacque, O. E., Quarmby, L. M., Katsanis, N., Leroux, M. R. <strong>Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.</strong> J. Cell Sci. 122: 611-624, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19208769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19208769</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19208769[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/10.1242/jcs.028621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19208769">Bialas et al., 2009</a>). These proteins localize to the transition zone complex that functions within the cilium (<a href="#3" class="mim-tip-reference" title="Dowdle, W. E., Robinson, J. F., Kneist, A., Sirerol-Piquer, M. S., Frints, S. G. M., Corbit, K. C., Zaghloul, N. A., van Lijnschoten, G., Mulders, L., Verver, D. E., Zerres, K., Reed, R. R., Attie-Bitach, T., Johnson, C. A., Garcia-Verdugo, J. M., Katsanis, N., Bergmann, C., Reiter, J. F. <strong>Disruption of a ciliary B9 protein complex causes Meckel syndrome.</strong> Am. J. Hum. Genet. 89: 94-110, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 589 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763481[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.2011.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21763481">Dowdle et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19208769+21763481" 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 searching for genes encoding B9 domain-containing proteins, <a href="#1" class="mim-tip-reference" title="Bialas, N. J., Inglis, P. N., Li, C., Robinson, J. F., Parker, J. D. K., Healey, M. P., Davis, E. E., Inglis, C. D., Toivonen, T., Cottell, D. C., Blacque, O. E., Quarmby, L. M., Katsanis, N., Leroux, M. R. <strong>Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.</strong> J. Cell Sci. 122: 611-624, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19208769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19208769</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19208769[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/10.1242/jcs.028621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19208769">Bialas et al. (2009)</a> identified B9D1. The deduced protein consists of little more than the approximately 115-amino acid B9 domain. Epitope- or fluorescence-tagged B9D1, B9D2, and MKS1 localized to ciliary axonemes and basal bodies of transfected ciliated mouse IMCD3 cells and to centrosomes of nonciliated IMCD3 cells. In C. elegans, the mks1, mksr1, and mksr2 genes were expressed in the transition zone at the base of sensory cilia, which corresponds to mammalian basal body only. Database analysis revealed orthologs of B9D1, B9D2, and MKS1 in the vast majority of ciliated species, but not in nonciliated organisms. The 3 B9 domain-containing proteins appeared to be evolutionarily ancient, and the duplications resulting in the 3 protein clades preceded speciation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19208769" 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="#1" class="mim-tip-reference" title="Bialas, N. J., Inglis, P. N., Li, C., Robinson, J. F., Parker, J. D. K., Healey, M. P., Davis, E. E., Inglis, C. D., Toivonen, T., Cottell, D. C., Blacque, O. E., Quarmby, L. M., Katsanis, N., Leroux, M. R. <strong>Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.</strong> J. Cell Sci. 122: 611-624, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19208769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19208769</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19208769[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/10.1242/jcs.028621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19208769">Bialas et al. (2009)</a> found that disruption of Mksr1 or Mksr2 genes via RNA interference in IMCD3 cells reduced the number of ciliated cells compared with control cultures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19208769" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Williams, C. L., Li, C., Kida, K., Inglis, P. N., Mohan, S., Semenec, L., Bialas, N. J., Stupay, R. M., Chen, N., Blacque, O. E., Yoder, B. K., Leroux, M. R. <strong>MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.</strong> J. Cell. Biol. 192: 1023-1041, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21422230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21422230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21422230[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/10.1083/jcb.201012116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21422230">Williams et al. (2011)</a> showed that the conserved proteins Mks1 (<a href="/entry/609883">609883</a>), Mksr1 (B9D1), Mksr2 (B9D2), Tmem67 (<a href="/entry/609884">609884</a>), Rpgrip1l (<a href="/entry/610937">610937</a>), Cc2d2a (<a href="/entry/612013">612013</a>), Nphp1 (<a href="/entry/607100">607100</a>), and Nphp4 (<a href="/entry/607215">607215</a>), functioned at an early stage of ciliogenesis in C. elegans. These 8 proteins localized to the ciliary transition zone and established attachments between the basal body and transition zone membrane. They also provided a docking site that restricted vesicle fusion to vesicles containing ciliary proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21422230" 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 tandem affinity purification and mass spectrometry to isolate proteins that purified with B9d1 in mouse IMCD3 cells and embryonic fibroblasts, <a href="#2" class="mim-tip-reference" title="Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S. <strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong> Nature Cell Biol. 14: 61-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>] [<a href="https://doi.org/10.1038/ncb2410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22179047">Chih et al. (2012)</a> identified several components of the B9d1-containing ciliary complex, including Tmem231 (<a href="/entry/614949">614949</a>), Tmem17 (<a href="/entry/614950">614950</a>), B9d2 (<a href="/entry/611951">611951</a>), Tctn1 (<a href="/entry/609863">609863</a>), Tctn2 (<a href="/entry/613846">613846</a>), Mks1, Ahi1 (<a href="/entry/608894">608894</a>), Cc2d2a, and Kctd10 (<a href="/entry/613421">613421</a>). Knockdown of B9d1, Tmem231, Tmem17, or Cc2d2a via small interfering RNA had a modest effect on cilia formation, but significantly reduced the amount of the somatostatin receptor Sstr3 (<a href="/entry/182453">182453</a>) that localized to cilia. Knockdown of B9d1, Tmem231, Tmem17, or Cc2d2a also interfered with sonic hedgehog signaling (see SHH, <a href="/entry/600725">600725</a>) by preventing the movement of Smo (SMOH; <a href="/entry/601500">601500</a>) into the ciliary membrane. Knockout of B9d1 and Tmem231 resulted in delayed ciliogenesis and cilia growth due to absence of diffusion barrier formation. <a href="#2" class="mim-tip-reference" title="Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S. <strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong> Nature Cell Biol. 14: 61-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>] [<a href="https://doi.org/10.1038/ncb2410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22179047">Chih et al. (2012)</a> concluded that formation of a diffusion barrier by the B9d1 complex is required for the formation and retention of cilia components. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" 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="#1" class="mim-tip-reference" title="Bialas, N. J., Inglis, P. N., Li, C., Robinson, J. F., Parker, J. D. K., Healey, M. P., Davis, E. E., Inglis, C. D., Toivonen, T., Cottell, D. C., Blacque, O. E., Quarmby, L. M., Katsanis, N., Leroux, M. R. <strong>Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.</strong> J. Cell Sci. 122: 611-624, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19208769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19208769</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19208769[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/10.1242/jcs.028621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19208769">Bialas et al. (2009)</a> stated that the B9D1 gene maps to chromosome 17p11.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19208769" 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><strong><em>Meckel Syndrome 9</em></strong></p><p>
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<a href="#4" class="mim-tip-reference" title="Hopp, K., Heyer, C. M., Hommerding, C. J., Henke, S. A., Sundsbak, J. L., Patel, S., Patel, P., Consugar, M. B., Czarnecki, P. G., Gliem, T. J., Torres, V. E., Rossetti, S., Harris, P. C. <strong>B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.</strong> Hum. Molec. Genet. 20: 2524-2534, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21493627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21493627</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21493627[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/10.1093/hmg/ddr151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21493627">Hopp et al. (2011)</a> performed exon-enriched next-generation sequencing of 31 ciliopathy genes in 12 pedigrees with Meckel syndrome in which mutations in known genes causing this disorder were not found. One fetal index case was found to carry a splice donor site mutation in the B9D1 gene (505+2T-C; <a href="#0001">614144.0001</a>), which was inherited from the father. Array CGH showed that the second mutation was a 1.71-Mb de novo deletion (<a href="#0002">614144.0002</a>) at chromosome 17p11.1, eliminating the entire B9D1 locus and 18 other genes. Immunofluorescence analysis revealed a significantly lower level of ciliated patient cells compared to controls, confirming a role for B9D1 in ciliogenesis. The fetus inherited from the mother an additional, likely pathogenic novel missense change (R2210C) in a second MKS gene, CEP290 (<a href="/entry/610142">610142</a>), suggesting oligogenic inheritance in this case. The form of Meckel syndrome caused by mutation in the B9D1 gene is designated MKS9 (<a href="/entry/614209">614209</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21493627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of 96 unrelated patients with Meckel syndrome, <a href="#3" class="mim-tip-reference" title="Dowdle, W. E., Robinson, J. F., Kneist, A., Sirerol-Piquer, M. S., Frints, S. G. M., Corbit, K. C., Zaghloul, N. A., van Lijnschoten, G., Mulders, L., Verver, D. E., Zerres, K., Reed, R. R., Attie-Bitach, T., Johnson, C. A., Garcia-Verdugo, J. M., Katsanis, N., Bergmann, C., Reiter, J. F. <strong>Disruption of a ciliary B9 protein complex causes Meckel syndrome.</strong> Am. J. Hum. Genet. 89: 94-110, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 589 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763481[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.2011.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21763481">Dowdle et al. (2011)</a> did not identify any pathogenic mutations in the B9D1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21763481" 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>Joubert Syndrome 27</em></strong></p><p>
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In 2 unrelated children with Joubert syndrome-27 (JBTS27; <a href="/entry/617120">617120</a>), <a href="#5" class="mim-tip-reference" title="Romani, M., Micalizzi, A., Kraoua, I., Dotti, M. T., Cavallin, M., Sztriha, L., Ruta, R., Mancini, F., Mazza, T., Castellana, S., Hanene, B., Carlucio, M. A., Darra, F., Mate, A., Zimmermann, A., Gouider-Khouja, N., Valente, E. M. <strong>Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.</strong> Orphanet J. Rare Dis. 9: 72, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886560</a>] [<a href="https://doi.org/10.1186/1750-1172-9-72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24886560">Romani et al. (2014)</a> identified biallelic mutations in the B9D1 gene (<a href="#0003">614144.0003</a>-<a href="#0005">614144.0005</a>). Functional studies of the variants and studies of patient cells were not performed. The patients were part of a group of 260 JBTS patients who were screened for mutations in ciliopathy genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24886560" 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="#1" class="mim-tip-reference" title="Bialas, N. J., Inglis, P. N., Li, C., Robinson, J. F., Parker, J. D. K., Healey, M. P., Davis, E. E., Inglis, C. D., Toivonen, T., Cottell, D. C., Blacque, O. E., Quarmby, L. M., Katsanis, N., Leroux, M. R. <strong>Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.</strong> J. Cell Sci. 122: 611-624, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19208769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19208769</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19208769[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/10.1242/jcs.028621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19208769">Bialas et al. (2009)</a> disrupted the B9 domains of C. elegans mks1, mksr1, and mksr2. In contrast to the defect found in mouse cells, C. elegans expressing single, double, or triple mks/mksr mutants showed no overt defects in ciliary structure, nor in intraflagellar transport, chemosensation, osmosensation, or lipid accumulation. However, disruption of one B9 domain-containing protein resulted in mislocalization of the others, and all possible double mks/mksr mutant combinations altered insulin signaling, leading to increased life span. The mks1/mksr1/mksr2 triple mutant did not exhibit a longevity phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19208769" 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="#3" class="mim-tip-reference" title="Dowdle, W. E., Robinson, J. F., Kneist, A., Sirerol-Piquer, M. S., Frints, S. G. M., Corbit, K. C., Zaghloul, N. A., van Lijnschoten, G., Mulders, L., Verver, D. E., Zerres, K., Reed, R. R., Attie-Bitach, T., Johnson, C. A., Garcia-Verdugo, J. M., Katsanis, N., Bergmann, C., Reiter, J. F. <strong>Disruption of a ciliary B9 protein complex causes Meckel syndrome.</strong> Am. J. Hum. Genet. 89: 94-110, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 589 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763481[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.2011.06.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21763481">Dowdle et al. (2011)</a> found that the phenotype of B9d1-null mice resembled that of Meckel syndrome (see <a href="/entry/249000">249000</a>). B9d1-null mouse mutants died at approximately embryonic day (E) 14.5. B9d1-null mouse mutants on a mixed genotypic background survived slightly longer, between E17.5 and postpartum day (P) 1. These mice showed multiple cystic kidney lesions with enlarged tubules and reduced numbers of shortened cilia compared to wildtype mice. They also showed hepatic ductal plate malformation with embryonic features, although cilia in bile ducts appeared normal. B9d1 mutants also showed preaxial polydactyly, more prominent in the hindlimbs (94%), and dextrocardia (44%), consistent with randomized heart looping. Other variable phenotypes included holoprosencephaly, microphthalmia, cleft palate, and ventricular septal defects. Embryonic nodes from mutant mice lacked almost all nodal cilia; the few that formed were short with swollen tips. Neural tubes showed proper docking of basal bodies, but failure to form axonemes. Examination of patterning and molecular signaling in the neural tube indicated a defect in hedgehog signaling. Similar to cilia in bile ducts, mouse embryonic fibroblasts showed normal ciliation, but defective hedgehog responsiveness. Mutant fibroblasts also showed a defect in ciliary localization of several proteins involved in the transition zone complex, including Smo (<a href="/entry/601500">601500</a>), Arl13b (<a href="/entry/608922">608922</a>), and ADCY3 (<a href="/entry/600291">600291</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21763481" 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="Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S. <strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong> Nature Cell Biol. 14: 61-72, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>] [<a href="https://doi.org/10.1038/ncb2410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22179047">Chih et al. (2012)</a> found that knockout of B9d1 or Tmem231 (<a href="/entry/614949">614949</a>) in mice led to lethality around embryonic day 15.5 with severe vascular defects. The phenotypes of B9d1 -/- and Tmem231 -/- mice were indistinguishable and showed signs of disrupted Shh signaling, including microphthalmia and polydactyly, and defects in patterning of the ventral spinal cord. Both B9d1 -/- and Tmem231 -/- embryos showed loss of cilia and altered Shh gene expression, including absence of Shh-positive floorplate cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" 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> rs143149764 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs143149764;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/rs143149764?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=rs143149764" 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=rs143149764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#4" class="mim-tip-reference" title="Hopp, K., Heyer, C. M., Hommerding, C. J., Henke, S. A., Sundsbak, J. L., Patel, S., Patel, P., Consugar, M. B., Czarnecki, P. G., Gliem, T. J., Torres, V. E., Rossetti, S., Harris, P. C. <strong>B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.</strong> Hum. Molec. Genet. 20: 2524-2534, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21493627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21493627</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21493627[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/10.1093/hmg/ddr151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21493627">Hopp et al. (2011)</a> reported a single fetus affected with Meckel syndrome type 9 (MKS9; <a href="/entry/614209">614209</a>) who was heterozygous for a splice site donor mutation, 505+2T-C, in B9D1, resulting in the loss of exon 4, a frameshift, and a premature stop codon (Thr82CysfsTer44) after the introduction of 44 nonconserved amino acids and a nearly complete disruption of the functional B9 domain. The mutation was inherited from the father. The other B9D1 allele was absent due to a de novo 1.71-Mb genomic deletion (<a href="#0002">614144.0002</a>), which deleted 18 other known genes. From the mother, the fetus inherited a novel, likely pathogenic heterozygous mutation in the CEP290 gene (R2210C; <a href="/entry/610142">610142</a>), which is mutant in MKS4 (<a href="/entry/611134">611134</a>), suggesting oligogenic inheritance in this case. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21493627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>For discussion of the 1.71-Mb deletion in the B9D1 gene that was found in compound heterozygous state in a patient with Meckel syndrome type 9 (MKS9; <a href="/entry/614209">614209</a>) by <a href="#4" class="mim-tip-reference" title="Hopp, K., Heyer, C. M., Hommerding, C. J., Henke, S. A., Sundsbak, J. L., Patel, S., Patel, P., Consugar, M. B., Czarnecki, P. G., Gliem, T. J., Torres, V. E., Rossetti, S., Harris, P. C. <strong>B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.</strong> Hum. Molec. Genet. 20: 2524-2534, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21493627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21493627</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21493627[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/10.1093/hmg/ddr151" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21493627">Hopp et al. (2011)</a>, see <a href="#0001">614144.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21493627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 JOUBERT SYNDROME 27</strong>
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B9D1, ARG156GLN
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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> rs886038205 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886038205;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/rs886038205?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=rs886038205" 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=rs886038205" 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=RCV000241544 OR RCV001582804 OR RCV001854947 OR RCV002251449" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000241544, RCV001582804, RCV001854947, RCV002251449" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000241544...</a>
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<p>In a 9-year-old boy (COR363) with Joubert syndrome-27 (JBTS27; <a href="/entry/617120">617120</a>), <a href="#5" class="mim-tip-reference" title="Romani, M., Micalizzi, A., Kraoua, I., Dotti, M. T., Cavallin, M., Sztriha, L., Ruta, R., Mancini, F., Mazza, T., Castellana, S., Hanene, B., Carlucio, M. A., Darra, F., Mate, A., Zimmermann, A., Gouider-Khouja, N., Valente, E. M. <strong>Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.</strong> Orphanet J. Rare Dis. 9: 72, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886560</a>] [<a href="https://doi.org/10.1186/1750-1172-9-72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24886560">Romani et al. (2014)</a> identified a homozygous c.467G-A transition (c.467G-A, NG_031885.1) in the B9D1 gene, resulting in an arg156-to-gln (R156Q) substitution at a highly conserved residue. Each unaffected parent was heterozygous for the mutation, which was not found in public databases. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24886560" 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="0004" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0004 JOUBERT SYNDROME 27</strong>
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B9D1, TYR32CYS
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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> rs771170000 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs771170000;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/rs771170000?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=rs771170000" 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=rs771170000" 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=RCV000201685 OR RCV000241546 OR RCV000778492 OR RCV004586621 OR RCV005016558" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000201685, RCV000241546, RCV000778492, RCV004586621, RCV005016558" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000201685...</a>
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<span class="mim-text-font">
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<p>In a 7-year-old girl (COR346) with Joubert syndrome-27 (JBTS27; <a href="/entry/617120">617120</a>), <a href="#5" class="mim-tip-reference" title="Romani, M., Micalizzi, A., Kraoua, I., Dotti, M. T., Cavallin, M., Sztriha, L., Ruta, R., Mancini, F., Mazza, T., Castellana, S., Hanene, B., Carlucio, M. A., Darra, F., Mate, A., Zimmermann, A., Gouider-Khouja, N., Valente, E. M. <strong>Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.</strong> Orphanet J. Rare Dis. 9: 72, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886560</a>] [<a href="https://doi.org/10.1186/1750-1172-9-72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24886560">Romani et al. (2014)</a> identified compound heterozygous mutations in the B9D1 gene: a c.95A-G transition (c.95A-G, NG_031885.1), resulting in a tyr32-to-cys (Y32C) substitution at a highly conserved residue, and a 3-bp in-frame deletion (c.520_522delGTG; <a href="#0005">614144.0005</a>), resulting in the deletion of conserved residue val174. Each unaffected parent was heterozygous for 1 of the mutations, which were not found in public databases. Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24886560" 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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<span class="mim-font">
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<strong>.0005 JOUBERT SYNDROME 27</strong>
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B9D1, 3-BP DEL 520GTG
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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> rs886038206 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs886038206;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/rs886038206?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=rs886038206" 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=rs886038206" 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=RCV000241542" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000241542" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000241542</a>
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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>For discussion of the 3-bp in-frame deletion (c.520_522delGTG, NG_031885.1) in the B9D1 gene, resulting in the deletion of conserved residue Val174, that was found in compound heterozygous state in a patient with Joubert syndrome-27 (JBTS27; <a href="/entry/617120">617120</a>), by <a href="#5" class="mim-tip-reference" title="Romani, M., Micalizzi, A., Kraoua, I., Dotti, M. T., Cavallin, M., Sztriha, L., Ruta, R., Mancini, F., Mazza, T., Castellana, S., Hanene, B., Carlucio, M. A., Darra, F., Mate, A., Zimmermann, A., Gouider-Khouja, N., Valente, E. M. <strong>Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.</strong> Orphanet J. Rare Dis. 9: 72, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886560</a>] [<a href="https://doi.org/10.1186/1750-1172-9-72" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24886560">Romani et al. (2014)</a>, see <a href="#0004">614144.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24886560" 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="references"class="mim-anchor"></a>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<a id="1" class="mim-anchor"></a>
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<a id="Bialas2009" class="mim-anchor"></a>
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<div class="">
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Bialas, N. J., Inglis, P. N., Li, C., Robinson, J. F., Parker, J. D. K., Healey, M. P., Davis, E. E., Inglis, C. D., Toivonen, T., Cottell, D. C., Blacque, O. E., Quarmby, L. M., Katsanis, N., Leroux, M. R.
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<strong>Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.</strong>
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J. Cell Sci. 122: 611-624, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19208769/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19208769</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19208769[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=19208769" 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/jcs.028621" target="_blank">Full Text</a>]
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<a id="Chih2012" class="mim-anchor"></a>
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Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S.
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<strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong>
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Nature Cell Biol. 14: 61-72, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22179047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22179047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22179047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ncb2410" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
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<a id="Dowdle2011" class="mim-anchor"></a>
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<div class="">
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Dowdle, W. E., Robinson, J. F., Kneist, A., Sirerol-Piquer, M. S., Frints, S. G. M., Corbit, K. C., Zaghloul, N. A., van Lijnschoten, G., Mulders, L., Verver, D. E., Zerres, K., Reed, R. R., Attie-Bitach, T., Johnson, C. A., Garcia-Verdugo, J. M., Katsanis, N., Bergmann, C., Reiter, J. F.
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<strong>Disruption of a ciliary B9 protein complex causes Meckel syndrome.</strong>
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Am. J. Hum. Genet. 89: 94-110, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 589 only, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21763481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21763481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21763481[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=21763481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2011.06.003" target="_blank">Full Text</a>]
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<a id="Hopp2011" class="mim-anchor"></a>
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Hopp, K., Heyer, C. M., Hommerding, C. J., Henke, S. A., Sundsbak, J. L., Patel, S., Patel, P., Consugar, M. B., Czarnecki, P. G., Gliem, T. J., Torres, V. E., Rossetti, S., Harris, P. C.
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<strong>B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.</strong>
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Hum. Molec. Genet. 20: 2524-2534, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21493627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21493627</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21493627[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=21493627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddr151" target="_blank">Full Text</a>]
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<a id="Romani2014" class="mim-anchor"></a>
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Romani, M., Micalizzi, A., Kraoua, I., Dotti, M. T., Cavallin, M., Sztriha, L., Ruta, R., Mancini, F., Mazza, T., Castellana, S., Hanene, B., Carlucio, M. A., Darra, F., Mate, A., Zimmermann, A., Gouider-Khouja, N., Valente, E. M.
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<strong>Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.</strong>
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Orphanet J. Rare Dis. 9: 72, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24886560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24886560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24886560" 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/10.1186/1750-1172-9-72" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Williams2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williams, C. L., Li, C., Kida, K., Inglis, P. N., Mohan, S., Semenec, L., Bialas, N. J., Stupay, R. M., Chen, N., Blacque, O. E., Yoder, B. K., Leroux, M. R.
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<strong>MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.</strong>
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J. Cell. Biol. 192: 1023-1041, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21422230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21422230</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21422230[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=21422230" 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/10.1083/jcb.201012116" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 09/22/2016
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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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Patricia A. Hartz - updated : 11/27/2012<br>George E. Tiller - updated : 9/2/2011<br>Cassandra L. Kniffin - updated : 8/30/2011
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<a id="creationDate" 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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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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Patricia A. Hartz : 8/5/2011
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/23/2016
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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ckniffin : 09/22/2016<br>ckniffin : 04/22/2015<br>carol : 3/4/2015<br>alopez : 11/27/2012<br>terry : 11/27/2012<br>carol : 11/22/2011<br>carol : 10/21/2011<br>carol : 9/2/2011<br>carol : 9/2/2011<br>terry : 9/2/2011<br>carol : 9/2/2011<br>ckniffin : 8/30/2011<br>wwang : 8/5/2011
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<span class="mim-font">
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<strong>*</strong> 614144
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<h3>
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<span class="mim-font">
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B9 DOMAIN-CONTAINING PROTEIN 1; B9D1
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</h3>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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MKS1-RELATED PROTEIN 1; MKSR1
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: B9D1</em></strong>
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<strong>
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<em>
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Cytogenetic location: 17p11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 17:19,334,695-19,377,913 </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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<strong>Gene-Phenotype Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="2">
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<span class="mim-font">
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17p11.2
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<span class="mim-font">
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?Meckel syndrome 9
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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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614209
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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Joubert syndrome 27
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</td>
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<span class="mim-font">
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617120
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<span class="mim-font">
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Autosomal recessive
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<td>
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<span class="mim-font">
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3
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>B9D1 belongs to a small family of proteins that also includes B9D2 (611951) and MKS1 (609883), and all 3 B9 domain-containing proteins associate with basal bodies and primary cilia in mammalian cells (Bialas et al., 2009). These proteins localize to the transition zone complex that functions within the cilium (Dowdle et al., 2011). </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>Cloning and Expression</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>By searching for genes encoding B9 domain-containing proteins, Bialas et al. (2009) identified B9D1. The deduced protein consists of little more than the approximately 115-amino acid B9 domain. Epitope- or fluorescence-tagged B9D1, B9D2, and MKS1 localized to ciliary axonemes and basal bodies of transfected ciliated mouse IMCD3 cells and to centrosomes of nonciliated IMCD3 cells. In C. elegans, the mks1, mksr1, and mksr2 genes were expressed in the transition zone at the base of sensory cilia, which corresponds to mammalian basal body only. Database analysis revealed orthologs of B9D1, B9D2, and MKS1 in the vast majority of ciliated species, but not in nonciliated organisms. The 3 B9 domain-containing proteins appeared to be evolutionarily ancient, and the duplications resulting in the 3 protein clades preceded speciation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bialas et al. (2009) found that disruption of Mksr1 or Mksr2 genes via RNA interference in IMCD3 cells reduced the number of ciliated cells compared with control cultures. </p><p>Williams et al. (2011) showed that the conserved proteins Mks1 (609883), Mksr1 (B9D1), Mksr2 (B9D2), Tmem67 (609884), Rpgrip1l (610937), Cc2d2a (612013), Nphp1 (607100), and Nphp4 (607215), functioned at an early stage of ciliogenesis in C. elegans. These 8 proteins localized to the ciliary transition zone and established attachments between the basal body and transition zone membrane. They also provided a docking site that restricted vesicle fusion to vesicles containing ciliary proteins. </p><p>Using tandem affinity purification and mass spectrometry to isolate proteins that purified with B9d1 in mouse IMCD3 cells and embryonic fibroblasts, Chih et al. (2012) identified several components of the B9d1-containing ciliary complex, including Tmem231 (614949), Tmem17 (614950), B9d2 (611951), Tctn1 (609863), Tctn2 (613846), Mks1, Ahi1 (608894), Cc2d2a, and Kctd10 (613421). Knockdown of B9d1, Tmem231, Tmem17, or Cc2d2a via small interfering RNA had a modest effect on cilia formation, but significantly reduced the amount of the somatostatin receptor Sstr3 (182453) that localized to cilia. Knockdown of B9d1, Tmem231, Tmem17, or Cc2d2a also interfered with sonic hedgehog signaling (see SHH, 600725) by preventing the movement of Smo (SMOH; 601500) into the ciliary membrane. Knockout of B9d1 and Tmem231 resulted in delayed ciliogenesis and cilia growth due to absence of diffusion barrier formation. Chih et al. (2012) concluded that formation of a diffusion barrier by the B9d1 complex is required for the formation and retention of cilia components. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bialas et al. (2009) stated that the B9D1 gene maps to chromosome 17p11.2. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Meckel Syndrome 9</em></strong></p><p>
|
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Hopp et al. (2011) performed exon-enriched next-generation sequencing of 31 ciliopathy genes in 12 pedigrees with Meckel syndrome in which mutations in known genes causing this disorder were not found. One fetal index case was found to carry a splice donor site mutation in the B9D1 gene (505+2T-C; 614144.0001), which was inherited from the father. Array CGH showed that the second mutation was a 1.71-Mb de novo deletion (614144.0002) at chromosome 17p11.1, eliminating the entire B9D1 locus and 18 other genes. Immunofluorescence analysis revealed a significantly lower level of ciliated patient cells compared to controls, confirming a role for B9D1 in ciliogenesis. The fetus inherited from the mother an additional, likely pathogenic novel missense change (R2210C) in a second MKS gene, CEP290 (610142), suggesting oligogenic inheritance in this case. The form of Meckel syndrome caused by mutation in the B9D1 gene is designated MKS9 (614209). </p><p>In a study of 96 unrelated patients with Meckel syndrome, Dowdle et al. (2011) did not identify any pathogenic mutations in the B9D1 gene. </p><p><strong><em>Joubert Syndrome 27</em></strong></p><p>
|
|
In 2 unrelated children with Joubert syndrome-27 (JBTS27; 617120), Romani et al. (2014) identified biallelic mutations in the B9D1 gene (614144.0003-614144.0005). Functional studies of the variants and studies of patient cells were not performed. The patients were part of a group of 260 JBTS patients who were screened for mutations in ciliopathy genes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bialas et al. (2009) disrupted the B9 domains of C. elegans mks1, mksr1, and mksr2. In contrast to the defect found in mouse cells, C. elegans expressing single, double, or triple mks/mksr mutants showed no overt defects in ciliary structure, nor in intraflagellar transport, chemosensation, osmosensation, or lipid accumulation. However, disruption of one B9 domain-containing protein resulted in mislocalization of the others, and all possible double mks/mksr mutant combinations altered insulin signaling, leading to increased life span. The mks1/mksr1/mksr2 triple mutant did not exhibit a longevity phenotype. </p><p>Dowdle et al. (2011) found that the phenotype of B9d1-null mice resembled that of Meckel syndrome (see 249000). B9d1-null mouse mutants died at approximately embryonic day (E) 14.5. B9d1-null mouse mutants on a mixed genotypic background survived slightly longer, between E17.5 and postpartum day (P) 1. These mice showed multiple cystic kidney lesions with enlarged tubules and reduced numbers of shortened cilia compared to wildtype mice. They also showed hepatic ductal plate malformation with embryonic features, although cilia in bile ducts appeared normal. B9d1 mutants also showed preaxial polydactyly, more prominent in the hindlimbs (94%), and dextrocardia (44%), consistent with randomized heart looping. Other variable phenotypes included holoprosencephaly, microphthalmia, cleft palate, and ventricular septal defects. Embryonic nodes from mutant mice lacked almost all nodal cilia; the few that formed were short with swollen tips. Neural tubes showed proper docking of basal bodies, but failure to form axonemes. Examination of patterning and molecular signaling in the neural tube indicated a defect in hedgehog signaling. Similar to cilia in bile ducts, mouse embryonic fibroblasts showed normal ciliation, but defective hedgehog responsiveness. Mutant fibroblasts also showed a defect in ciliary localization of several proteins involved in the transition zone complex, including Smo (601500), Arl13b (608922), and ADCY3 (600291). </p><p>Chih et al. (2012) found that knockout of B9d1 or Tmem231 (614949) in mice led to lethality around embryonic day 15.5 with severe vascular defects. The phenotypes of B9d1 -/- and Tmem231 -/- mice were indistinguishable and showed signs of disrupted Shh signaling, including microphthalmia and polydactyly, and defects in patterning of the ventral spinal cord. Both B9d1 -/- and Tmem231 -/- embryos showed loss of cilia and altered Shh gene expression, including absence of Shh-positive floorplate cells. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<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>5 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 MECKEL SYNDROME, TYPE 9 (1 family)</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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B9D1, 505, T-C, +2
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<br />
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SNP: rs143149764,
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gnomAD: rs143149764,
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ClinVar: RCV000024098, RCV000049798, RCV000818541, RCV001270058
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<p>Hopp et al. (2011) reported a single fetus affected with Meckel syndrome type 9 (MKS9; 614209) who was heterozygous for a splice site donor mutation, 505+2T-C, in B9D1, resulting in the loss of exon 4, a frameshift, and a premature stop codon (Thr82CysfsTer44) after the introduction of 44 nonconserved amino acids and a nearly complete disruption of the functional B9 domain. The mutation was inherited from the father. The other B9D1 allele was absent due to a de novo 1.71-Mb genomic deletion (614144.0002), which deleted 18 other known genes. From the mother, the fetus inherited a novel, likely pathogenic heterozygous mutation in the CEP290 gene (R2210C; 610142), which is mutant in MKS4 (611134), suggesting oligogenic inheritance in this case. </p>
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<span class="mim-font">
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<strong>.0002 MECKEL SYNDROME, TYPE 9 (1 family)</strong>
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</h4>
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<span class="mim-text-font">
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B9D1, 1.71-MB DEL
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<br />
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ClinVar: RCV000024099
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<p>For discussion of the 1.71-Mb deletion in the B9D1 gene that was found in compound heterozygous state in a patient with Meckel syndrome type 9 (MKS9; 614209) by Hopp et al. (2011), see 614144.0001. </p>
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<strong>.0003 JOUBERT SYNDROME 27</strong>
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</h4>
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<span class="mim-text-font">
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B9D1, ARG156GLN
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<br />
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SNP: rs886038205,
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gnomAD: rs886038205,
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ClinVar: RCV000241544, RCV001582804, RCV001854947, RCV002251449
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<p>In a 9-year-old boy (COR363) with Joubert syndrome-27 (JBTS27; 617120), Romani et al. (2014) identified a homozygous c.467G-A transition (c.467G-A, NG_031885.1) in the B9D1 gene, resulting in an arg156-to-gln (R156Q) substitution at a highly conserved residue. Each unaffected parent was heterozygous for the mutation, which was not found in public databases. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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<span class="mim-font">
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<strong>.0004 JOUBERT SYNDROME 27</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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B9D1, TYR32CYS
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<br />
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SNP: rs771170000,
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gnomAD: rs771170000,
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ClinVar: RCV000201685, RCV000241546, RCV000778492, RCV004586621, RCV005016558
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</span>
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<div>
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<span class="mim-text-font">
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<p>In a 7-year-old girl (COR346) with Joubert syndrome-27 (JBTS27; 617120), Romani et al. (2014) identified compound heterozygous mutations in the B9D1 gene: a c.95A-G transition (c.95A-G, NG_031885.1), resulting in a tyr32-to-cys (Y32C) substitution at a highly conserved residue, and a 3-bp in-frame deletion (c.520_522delGTG; 614144.0005), resulting in the deletion of conserved residue val174. Each unaffected parent was heterozygous for 1 of the mutations, which were not found in public databases. Functional studies of the variants and studies of patient cells were not performed. </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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<h4>
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<span class="mim-font">
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<strong>.0005 JOUBERT SYNDROME 27</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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B9D1, 3-BP DEL 520GTG
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<br />
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SNP: rs886038206,
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gnomAD: rs886038206,
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ClinVar: RCV000241542
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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>For discussion of the 3-bp in-frame deletion (c.520_522delGTG, NG_031885.1) in the B9D1 gene, resulting in the deletion of conserved residue Val174, that was found in compound heterozygous state in a patient with Joubert syndrome-27 (JBTS27; 617120), by Romani et al. (2014), see 614144.0004. </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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<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>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bialas, N. J., Inglis, P. N., Li, C., Robinson, J. F., Parker, J. D. K., Healey, M. P., Davis, E. E., Inglis, C. D., Toivonen, T., Cottell, D. C., Blacque, O. E., Quarmby, L. M., Katsanis, N., Leroux, M. R.
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|
<strong>Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.</strong>
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|
J. Cell Sci. 122: 611-624, 2009.
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[PubMed: 19208769]
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[Full Text: https://doi.org/10.1242/jcs.028621]
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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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Chih, B., Liu, P., Chinn, Y., Chalouni, C., Komuves, L. G., Hass, P. E., Sandoval, W., Peterson, A. S.
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<strong>A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.</strong>
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Nature Cell Biol. 14: 61-72, 2012.
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[PubMed: 22179047]
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[Full Text: https://doi.org/10.1038/ncb2410]
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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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Dowdle, W. E., Robinson, J. F., Kneist, A., Sirerol-Piquer, M. S., Frints, S. G. M., Corbit, K. C., Zaghloul, N. A., van Lijnschoten, G., Mulders, L., Verver, D. E., Zerres, K., Reed, R. R., Attie-Bitach, T., Johnson, C. A., Garcia-Verdugo, J. M., Katsanis, N., Bergmann, C., Reiter, J. F.
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|
<strong>Disruption of a ciliary B9 protein complex causes Meckel syndrome.</strong>
|
|
Am. J. Hum. Genet. 89: 94-110, 2011. Note: Erratum: Am. J. Hum. Genet. 89: 589 only, 2011.
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[PubMed: 21763481]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.06.003]
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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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Hopp, K., Heyer, C. M., Hommerding, C. J., Henke, S. A., Sundsbak, J. L., Patel, S., Patel, P., Consugar, M. B., Czarnecki, P. G., Gliem, T. J., Torres, V. E., Rossetti, S., Harris, P. C.
|
|
<strong>B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.</strong>
|
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Hum. Molec. Genet. 20: 2524-2534, 2011.
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[PubMed: 21493627]
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[Full Text: https://doi.org/10.1093/hmg/ddr151]
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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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Romani, M., Micalizzi, A., Kraoua, I., Dotti, M. T., Cavallin, M., Sztriha, L., Ruta, R., Mancini, F., Mazza, T., Castellana, S., Hanene, B., Carlucio, M. A., Darra, F., Mate, A., Zimmermann, A., Gouider-Khouja, N., Valente, E. M.
|
|
<strong>Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.</strong>
|
|
Orphanet J. Rare Dis. 9: 72, 2014. Note: Electronic Article.
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[PubMed: 24886560]
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[Full Text: https://doi.org/10.1186/1750-1172-9-72]
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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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Williams, C. L., Li, C., Kida, K., Inglis, P. N., Mohan, S., Semenec, L., Bialas, N. J., Stupay, R. M., Chen, N., Blacque, O. E., Yoder, B. K., Leroux, M. R.
|
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<strong>MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.</strong>
|
|
J. Cell. Biol. 192: 1023-1041, 2011.
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[PubMed: 21422230]
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[Full Text: https://doi.org/10.1083/jcb.201012116]
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</p>
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</li>
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</ol>
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<br />
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 09/22/2016<br>Patricia A. Hartz - updated : 11/27/2012<br>George E. Tiller - updated : 9/2/2011<br>Cassandra L. Kniffin - updated : 8/30/2011
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Patricia A. Hartz : 8/5/2011
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carol : 09/23/2016<br>ckniffin : 09/22/2016<br>ckniffin : 04/22/2015<br>carol : 3/4/2015<br>alopez : 11/27/2012<br>terry : 11/27/2012<br>carol : 11/22/2011<br>carol : 10/21/2011<br>carol : 9/2/2011<br>carol : 9/2/2011<br>terry : 9/2/2011<br>carol : 9/2/2011<br>ckniffin : 8/30/2011<br>wwang : 8/5/2011
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