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Entry
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- *611951 - B9 DOMAIN-CONTAINING PROTEIN 2; B9D2
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- OMIM
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<p>
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<span class="h4">*611951</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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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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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/611951">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000123810;t=ENST00000243578" 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=80776" 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=611951" 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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<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=ENSG00000123810;t=ENST00000243578" 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_030578,XM_011527349,XM_011527350" 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_030578" 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=611951" 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 id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=14613&isoform_id=14613_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/B9D2" 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/13278768,13325251,119577438,221222440,226371646,768011284,768011290,2462567909,2462567911" 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/Q9BPU9" 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=80776" 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=ENSG00000123810;t=ENST00000243578" 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=B9D2" 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=B9D2" 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+80776" 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/B9D2" 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:80776" 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/80776" 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=chr19&hgg_gene=ENST00000243578.8&hgg_start=41354417&hgg_end=41364149&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/genes/HGNC:28636" 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=611951[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=611951[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000123810" 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=B9D2" 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=B9D2" 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=B9D2" 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=B9D2&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/PA162377347" 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:28636" 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/FBgn0261683.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:2387643" 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/B9D2#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:2387643" 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/80776/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=80776" 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=WBGene00021416;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-040718-90" 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=B9D2&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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611951
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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 2; B9D2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
STUMPY, MOUSE, HOMOLOG OF<br />
|
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MKS1-RELATED PROTEIN 2; MKSR2<br />
|
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INVOLVED IN CILIA STABILITY 1; ICIS1
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=B9D2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">B9D2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/19/727?start=-3&limit=10&highlight=727">19q13.2</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:41354417-41364149&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'})">19:41,354,417-41,364,149</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>
|
|
<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>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
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Location
|
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</th>
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<th>
|
|
Phenotype
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
|
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>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/727?start=-3&limit=10&highlight=727">
|
|
19q13.2
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
?Meckel syndrome 10
|
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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>
|
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</span>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614175"> 614175 </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">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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|
|
|
|
|
</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Joubert syndrome 34
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/614175"> 614175 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<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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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/611951" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611951" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
|
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<br />
|
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</div>
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<p>B9D2 belongs to a small family of proteins that also includes B9D1 (<a href="/entry/614144">614144</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="#2" 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>Using RACE-PCR, <a href="#5" class="mim-tip-reference" title="Ponsard, C., Skowron-Zwarg, M., Seltzer, V., Perret, E., Gallinger, J., Fisch, C., Dupuis-Williams, P., Caruso, N., Middendorp, S., Tournier, F. <strong>Identification of ICIS-1, a new protein involved in ciliary stability.</strong> Front. Biosci. 12: 1661-1669, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17127412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17127412</a>] [<a href="https://doi.org/10.2741/2178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17127412">Ponsard et al. (2007)</a> cloned B9D2, which they called ICIS1, from human nasal epithelial cell cDNA. The predicted 175-amino acid protein contains a C2 domain and shares significant similarity with EPPB9 (B9D1). Northern blot analysis showed ubiquitous expression of a major 1.0-kb transcript and a minor 2.5-kb transcript in human tissues. ICIS1 orthologs are present in species containing cilia or flagella but are absent in nonciliated species, such as A. thaliana. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17127412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Town, T., Breunig, J. J., Sarkisian, M. R., Spilianakis, C., Ayoub, A. E., Liu, X., Ferrandino, A. F., Gallagher, A. R., Li, M. O., Rakic, P., Flavell, R. A. <strong>The stumpy gene is required for mammalian ciliogenesis.</strong> Proc. Nat. Acad. Sci. 105: 2853-2858, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18287022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18287022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18287022[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0712385105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18287022">Town et al. (2008)</a> cloned mouse B9d2, which they called stumpy. The deduced 175-amino acid protein contains an N-terminal B9/C2 calcium/lipid-binding region. RT-PCR of mouse tissues detected widespread stumpy expression, with highest levels in thymus and skeletal muscle. In situ hybridization showed stumpy expression throughout early postnatal mouse brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18287022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By searching for genes encoding B9 domain-containing proteins, <a href="#2" 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 B9D2. 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="#5" class="mim-tip-reference" title="Ponsard, C., Skowron-Zwarg, M., Seltzer, V., Perret, E., Gallinger, J., Fisch, C., Dupuis-Williams, P., Caruso, N., Middendorp, S., Tournier, F. <strong>Identification of ICIS-1, a new protein involved in ciliary stability.</strong> Front. Biosci. 12: 1661-1669, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17127412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17127412</a>] [<a href="https://doi.org/10.2741/2178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17127412">Ponsard et al. (2007)</a> determined that the B9D2 gene contains 4 exons, the first of which is noncoding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17127412" 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 genomic sequence analysis, <a href="#5" class="mim-tip-reference" title="Ponsard, C., Skowron-Zwarg, M., Seltzer, V., Perret, E., Gallinger, J., Fisch, C., Dupuis-Williams, P., Caruso, N., Middendorp, S., Tournier, F. <strong>Identification of ICIS-1, a new protein involved in ciliary stability.</strong> Front. Biosci. 12: 1661-1669, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17127412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17127412</a>] [<a href="https://doi.org/10.2741/2178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17127412">Ponsard et al. (2007)</a> determined that the B9D2 gene is located within the promoter region of the TGFB1 gene (<a href="/entry/190180">190180</a>) in human, mouse, and rat. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17127412" 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="#4" class="mim-tip-reference" title="Hartz, P. A. <strong>Personal Communication.</strong> Baltimore, Md. 4/14/2008."None>Hartz (2008)</a> mapped the B9D2 gene to chromosome 19q13.2 based on an alignment of the B9D2 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC004157" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC004157</a>) with the genomic sequence (build 36.1).</p><p><a href="#2" 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 B9D2 gene maps to chromosome 19q13.2. <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><p><a href="#7" class="mim-tip-reference" title="Town, T., Breunig, J. J., Sarkisian, M. R., Spilianakis, C., Ayoub, A. E., Liu, X., Ferrandino, A. F., Gallagher, A. R., Li, M. O., Rakic, P., Flavell, R. A. <strong>The stumpy gene is required for mammalian ciliogenesis.</strong> Proc. Nat. Acad. Sci. 105: 2853-2858, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18287022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18287022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18287022[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0712385105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18287022">Town et al. (2008)</a> mapped the mouse B9d2 gene to chromosome 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18287022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using Northern blot analysis, <a href="#5" class="mim-tip-reference" title="Ponsard, C., Skowron-Zwarg, M., Seltzer, V., Perret, E., Gallinger, J., Fisch, C., Dupuis-Williams, P., Caruso, N., Middendorp, S., Tournier, F. <strong>Identification of ICIS-1, a new protein involved in ciliary stability.</strong> Front. Biosci. 12: 1661-1669, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17127412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17127412</a>] [<a href="https://doi.org/10.2741/2178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17127412">Ponsard et al. (2007)</a> showed that human ICIS1 was differentially expressed during mucociliary differentiation, with expression correlating with the proportion of ciliated cells. Knockdown analysis in Paramecium tetraurelia showed that the Icis1 ortholog was involved with cilia stability or formation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17127412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Town, T., Breunig, J. J., Sarkisian, M. R., Spilianakis, C., Ayoub, A. E., Liu, X., Ferrandino, A. F., Gallagher, A. R., Li, M. O., Rakic, P., Flavell, R. A. <strong>The stumpy gene is required for mammalian ciliogenesis.</strong> Proc. Nat. Acad. Sci. 105: 2853-2858, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18287022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18287022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18287022[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0712385105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18287022">Town et al. (2008)</a> found that mouse stumpy colocalized with ciliary basal bodies, physically interacted with gamma-tubulin (see TUBG1; <a href="/entry/191135">191135</a>), and was present along ciliary axonemes in transfected HeLa cells and canine kidney cells, suggesting that stumpy plays a role in ciliary axoneme extension. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18287022" 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="#8" 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><a href="#2" 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>
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In 2 fetuses with Meckel syndrome-10 (MKS10; <a href="/entry/614175">614175</a>), <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> identified a homozygous mutation in the B9D2 gene (S101R; <a href="#0001">611951.0001</a>). The proband was from a larger cohort of 96 unrelated MKS patients. Immunoprecipitation studies showed that the mutant S101R protein failed to interact with MKS1, although it retained its ability to interact with B9D1. The results indicated that a complex of B9 proteins cooperate to support mammalian ciliogenesis and ciliary protein localization. Disruption of any of the members of this complex can result in Meckel syndrome. <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>In an Indian fetus with Meckel syndrome, <a href="#6" class="mim-tip-reference" title="Radhakrishnan, P., Nayak, S. S., Shukla, A., Lindstrand, A., Girisha, K. M. <strong>Meckel syndrome: clinical and mutation profile in six fetuses.</strong> Clin. Genet. 96: 560-565, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31411728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31411728</a>] [<a href="https://doi.org/10.1111/cge.13623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31411728">Radhakrishnan et al. (2019)</a> identified homozygosity for a missense mutation in the B9D2 gene (H5Q; <a href="#0005">611951.0005</a>) that segregated with disease in the family and was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31411728" 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 34</em></strong></p><p>
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In 2 unrelated patients with Joubert syndrome (JBTS34; see <a href="/entry/614175">614175</a>), <a href="#1" class="mim-tip-reference" title="Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O'Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., and 17 others. <strong>Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</strong> J. Med. Genet. 52: 514-522, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26092869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26092869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26092869[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/10.1136/jmedgenet-2015-103087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26092869">Bachmann-Gagescu et al. (2015)</a> identified homozygous or compound heterozygous mutations in the B9D2 gene (<a href="#0002">611951.0002</a>-<a href="#0004">611951.0004</a>). The mutations were identified by sequencing 27 candidate genes in 428 affected individuals from 363 families by molecular inversion probe targeted capture followed by next-generation sequencing. No functional studies of the variants were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26092869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Town, T., Breunig, J. J., Sarkisian, M. R., Spilianakis, C., Ayoub, A. E., Liu, X., Ferrandino, A. F., Gallagher, A. R., Li, M. O., Rakic, P., Flavell, R. A. <strong>The stumpy gene is required for mammalian ciliogenesis.</strong> Proc. Nat. Acad. Sci. 105: 2853-2858, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18287022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18287022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18287022[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0712385105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18287022">Town et al. (2008)</a> found that conditional loss of stumpy in mouse brain and kidney resulted in perinatal hydrocephalus (see <a href="/entry/236600">236600</a>) and severe polycystic kidney disease (see <a href="/entry/173900">173900</a>), respectively. Cilia in stumpy mutant brain and kidney cells were absent or markedly deformed, resulting in defective flow of cerebrospinal fluid. Stumpy mutant mice had a deletion of exon 4 of stumpy and exon 1 of the adjacent gene, Tgfb1 (<a href="/entry/190180">190180</a>), resulting in expression of an in-frame chimeric stumpy/Tgfb1 mRNA. However, <a href="#7" class="mim-tip-reference" title="Town, T., Breunig, J. J., Sarkisian, M. R., Spilianakis, C., Ayoub, A. E., Liu, X., Ferrandino, A. F., Gallagher, A. R., Li, M. O., Rakic, P., Flavell, R. A. <strong>The stumpy gene is required for mammalian ciliogenesis.</strong> Proc. Nat. Acad. Sci. 105: 2853-2858, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18287022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18287022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18287022[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0712385105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18287022">Town et al. (2008)</a> demonstrated that stumpy deficiency rather than Tgfb1 disruption caused the phenotype of stumpy mutant mice. They concluded that stumpy is essential for ciliogenesis and suggested that it may be involved in the pathogenesis of congenital hydrocephalus and polycystic kidney disease in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18287022" 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="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 domain 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, 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 morpholino suppression of B9d2 in zebrafish resulted in dosage-dependent ciliary phenotypes, including shortened body axes, mediolaterally elongated somites, and notochord imperfections. The defects could be rescued by expression of wildtype human B9D2 mRNA. <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>
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<p>In 2 fetuses with Meckel syndrome type 10 (MKS10; <a href="/entry/614175">614175</a>) who were born in a consanguineous family from Surinam with an Indian-Pakistani background, <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> identified a homozygous 301A-C transversion in the B9D2 gene, resulting in a ser101-to-arg (S101R) substitution in a highly conserved residue within the B9 domain. The mutation was not detected in 688 control chromosomes. Studies of zebrafish knockouts showed that wildtype human B9D2 could rescue dosage-dependent ciliary defects, whereas the S101R mutant could not, consistent with its being a loss-of-function allele. The mutant allele localized properly to the basal body, but immunoprecipitation studies showed that the mutant S101R protein failed to interact with MKS1 (<a href="/entry/609883">609883</a>), although it retained its ability to interact with B9D1 (<a href="/entry/614144">614144</a>). The results indicated that a complex of B9 proteins cooperate to support mammalian ciliogenesis and ciliary protein localization. Disruption of any of the members of this complex can result in Meckel syndrome. The fetuses reported by <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> had occipital encephalocele, postaxial polydactyly of the hands and feet, renal cysts, and hepatic ductal plate malformations; 1 fetus had anencephaly. <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>
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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> rs757863670 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs757863670;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/rs757863670?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=rs757863670" 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=rs757863670" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient (UW309-3) with Joubert syndrome (JBTS34; see <a href="/entry/614175">614175</a>), <a href="#1" class="mim-tip-reference" title="Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O'Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., and 17 others. <strong>Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</strong> J. Med. Genet. 52: 514-522, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26092869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26092869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26092869[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/10.1136/jmedgenet-2015-103087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26092869">Bachmann-Gagescu et al. (2015)</a> identified homozygosity for a leu36-to-pro (L36P) substitution in the B9D2 gene. The mutation was identified by sequencing 27 candidate genes in 428 affected individuals from 363 families by molecular inversion probe targeted capture followed by next-generation sequencing. No functional studies of the variant were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26092869" 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> rs750436680 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs750436680;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/rs750436680?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=rs750436680" 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=rs750436680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient (UW284-3) with Joubert syndrome (JBTS34; see <a href="/entry/614175">614175</a>), <a href="#1" class="mim-tip-reference" title="Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O'Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., and 17 others. <strong>Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</strong> J. Med. Genet. 52: 514-522, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26092869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26092869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26092869[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/10.1136/jmedgenet-2015-103087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26092869">Bachmann-Gagescu et al. (2015)</a> identified compound heterozygous mutations in the B9D2 gene: gly155-to-ser (G155S) inherited from the mother and pro74-to-ser (P74S; <a href="#0004">611951.0004</a>) inherited from the father. The mutation was identified by sequencing 27 candidate genes in 428 affected individuals from 363 families by molecular inversion probe targeted capture followed by next-generation sequencing. No functional studies of the variant were performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26092869" 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 pro74-to-ser (P74S) mutation in the B9D2 gene that was identified in compound heterozygous state in a patient with Joubert syndrome (JBST34; see <a href="/entry/614175">614175</a>) by <a href="#1" class="mim-tip-reference" title="Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O'Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., and 17 others. <strong>Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</strong> J. Med. Genet. 52: 514-522, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26092869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26092869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26092869[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/10.1136/jmedgenet-2015-103087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26092869">Bachmann-Gagescu et al. (2015)</a>, see <a href="#0003">611951.0003</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26092869" 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>.0005 MECKEL SYNDROME, TYPE 10</strong>
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<p>In an Indian fetus with Meckel syndrome (MKS10; <a href="/entry/614175">614175</a>), <a href="#6" class="mim-tip-reference" title="Radhakrishnan, P., Nayak, S. S., Shukla, A., Lindstrand, A., Girisha, K. M. <strong>Meckel syndrome: clinical and mutation profile in six fetuses.</strong> Clin. Genet. 96: 560-565, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31411728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31411728</a>] [<a href="https://doi.org/10.1111/cge.13623" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31411728">Radhakrishnan et al. (2019)</a> identified homozygosity for a c.15C-A transversion (c.15C-A, NM_030578.3) in exon 2 of the B9D2 gene, resulting in a his5-to-gln (H5Q) substitution at a highly conserved residue within the functional domain. The parents were heterozygous for the mutation, which was not found in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31411728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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</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 id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Bachmann-Gagescu2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O'Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., and 17 others.
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<strong>Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</strong>
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J. Med. Genet. 52: 514-522, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26092869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26092869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26092869[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=26092869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmedgenet-2015-103087" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="2" 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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<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: <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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</p>
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</div>
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</li>
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<li>
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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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<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>
|
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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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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Hartz2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 4/14/2008.
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</p>
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</div>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Ponsard2007" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ponsard, C., Skowron-Zwarg, M., Seltzer, V., Perret, E., Gallinger, J., Fisch, C., Dupuis-Williams, P., Caruso, N., Middendorp, S., Tournier, F.
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|
<strong>Identification of ICIS-1, a new protein involved in ciliary stability.</strong>
|
|
Front. Biosci. 12: 1661-1669, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17127412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17127412</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17127412" 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/10.2741/2178" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Radhakrishnan2019" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Radhakrishnan, P., Nayak, S. S., Shukla, A., Lindstrand, A., Girisha, K. M.
|
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<strong>Meckel syndrome: clinical and mutation profile in six fetuses.</strong>
|
|
Clin. Genet. 96: 560-565, 2019.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31411728/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31411728</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31411728" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13623" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Town2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Town, T., Breunig, J. J., Sarkisian, M. R., Spilianakis, C., Ayoub, A. E., Liu, X., Ferrandino, A. F., Gallagher, A. R., Li, M. O., Rakic, P., Flavell, R. A.
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|
<strong>The stumpy gene is required for mammalian ciliogenesis.</strong>
|
|
Proc. Nat. Acad. Sci. 105: 2853-2858, 2008.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18287022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18287022</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18287022[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=18287022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0712385105" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" 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.
|
|
<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: <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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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="contributors" 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="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 05/12/2022
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 09/15/2021<br>Bao Lige - updated : 09/15/2021<br>Carol A. Bocchini - updated : 11/15/2017<br>Cassandra L. Kniffin - updated : 8/30/2011<br>Patricia A. Hartz - updated : 8/5/2011<br>Patricia A. Hartz - updated : 4/29/2011
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</span>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="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 : 4/14/2008
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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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 : 05/13/2022
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</span>
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 05/12/2022<br>mgross : 09/15/2021<br>mgross : 09/15/2021<br>carol : 11/16/2017<br>carol : 11/15/2017<br>carol : 11/22/2011<br>carol : 10/21/2011<br>carol : 9/2/2011<br>ckniffin : 8/30/2011<br>wwang : 8/5/2011<br>terry : 8/5/2011<br>mgross : 5/19/2011<br>terry : 4/29/2011<br>mgross : 4/14/2008
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</span>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611951
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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B9 DOMAIN-CONTAINING PROTEIN 2; B9D2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<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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STUMPY, MOUSE, HOMOLOG OF<br />
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MKS1-RELATED PROTEIN 2; MKSR2<br />
|
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INVOLVED IN CILIA STABILITY 1; ICIS1
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: B9D2</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 19q13.2
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 19:41,354,417-41,364,149 </span>
|
|
</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
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Location
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</th>
|
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<th>
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|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
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</th>
|
|
</tr>
|
|
</thead>
|
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
19q13.2
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
?Meckel syndrome 10
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614175
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</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 34
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
614175
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>B9D2 belongs to a small family of proteins that also includes B9D1 (614144) 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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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using RACE-PCR, Ponsard et al. (2007) cloned B9D2, which they called ICIS1, from human nasal epithelial cell cDNA. The predicted 175-amino acid protein contains a C2 domain and shares significant similarity with EPPB9 (B9D1). Northern blot analysis showed ubiquitous expression of a major 1.0-kb transcript and a minor 2.5-kb transcript in human tissues. ICIS1 orthologs are present in species containing cilia or flagella but are absent in nonciliated species, such as A. thaliana. </p><p>Town et al. (2008) cloned mouse B9d2, which they called stumpy. The deduced 175-amino acid protein contains an N-terminal B9/C2 calcium/lipid-binding region. RT-PCR of mouse tissues detected widespread stumpy expression, with highest levels in thymus and skeletal muscle. In situ hybridization showed stumpy expression throughout early postnatal mouse brain. </p><p>By searching for genes encoding B9 domain-containing proteins, Bialas et al. (2009) identified B9D2. 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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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ponsard et al. (2007) determined that the B9D2 gene contains 4 exons, the first of which is noncoding. </p>
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</span>
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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>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>By genomic sequence analysis, Ponsard et al. (2007) determined that the B9D2 gene is located within the promoter region of the TGFB1 gene (190180) in human, mouse, and rat. </p><p>Hartz (2008) mapped the B9D2 gene to chromosome 19q13.2 based on an alignment of the B9D2 sequence (GenBank BC004157) with the genomic sequence (build 36.1).</p><p>Bialas et al. (2009) stated that the B9D2 gene maps to chromosome 19q13.2. </p><p>Town et al. (2008) mapped the mouse B9d2 gene to chromosome 7. </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>Using Northern blot analysis, Ponsard et al. (2007) showed that human ICIS1 was differentially expressed during mucociliary differentiation, with expression correlating with the proportion of ciliated cells. Knockdown analysis in Paramecium tetraurelia showed that the Icis1 ortholog was involved with cilia stability or formation. </p><p>Town et al. (2008) found that mouse stumpy colocalized with ciliary basal bodies, physically interacted with gamma-tubulin (see TUBG1; 191135), and was present along ciliary axonemes in transfected HeLa cells and canine kidney cells, suggesting that stumpy plays a role in ciliary axoneme extension. </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>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>
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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 10</em></strong></p><p>
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In 2 fetuses with Meckel syndrome-10 (MKS10; 614175), Dowdle et al. (2011) identified a homozygous mutation in the B9D2 gene (S101R; 611951.0001). The proband was from a larger cohort of 96 unrelated MKS patients. Immunoprecipitation studies showed that the mutant S101R protein failed to interact with MKS1, although it retained its ability to interact with B9D1. The results indicated that a complex of B9 proteins cooperate to support mammalian ciliogenesis and ciliary protein localization. Disruption of any of the members of this complex can result in Meckel syndrome. </p><p>In an Indian fetus with Meckel syndrome, Radhakrishnan et al. (2019) identified homozygosity for a missense mutation in the B9D2 gene (H5Q; 611951.0005) that segregated with disease in the family and was not found in the gnomAD database. </p><p><strong><em>Joubert Syndrome 34</em></strong></p><p>
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In 2 unrelated patients with Joubert syndrome (JBTS34; see 614175), Bachmann-Gagescu et al. (2015) identified homozygous or compound heterozygous mutations in the B9D2 gene (611951.0002-611951.0004). The mutations were identified by sequencing 27 candidate genes in 428 affected individuals from 363 families by molecular inversion probe targeted capture followed by next-generation sequencing. No functional studies of the variants were performed. </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>Town et al. (2008) found that conditional loss of stumpy in mouse brain and kidney resulted in perinatal hydrocephalus (see 236600) and severe polycystic kidney disease (see 173900), respectively. Cilia in stumpy mutant brain and kidney cells were absent or markedly deformed, resulting in defective flow of cerebrospinal fluid. Stumpy mutant mice had a deletion of exon 4 of stumpy and exon 1 of the adjacent gene, Tgfb1 (190180), resulting in expression of an in-frame chimeric stumpy/Tgfb1 mRNA. However, Town et al. (2008) demonstrated that stumpy deficiency rather than Tgfb1 disruption caused the phenotype of stumpy mutant mice. They concluded that stumpy is essential for ciliogenesis and suggested that it may be involved in the pathogenesis of congenital hydrocephalus and polycystic kidney disease in humans. </p><p>Bialas et al. (2009) disrupted the B9 domain 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, 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 morpholino suppression of B9d2 in zebrafish resulted in dosage-dependent ciliary phenotypes, including shortened body axes, mediolaterally elongated somites, and notochord imperfections. The defects could be rescued by expression of wildtype human B9D2 mRNA. </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 10</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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B9D2, SER101ARG
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<br />
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SNP: rs1487082103,
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gnomAD: rs1487082103,
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ClinVar: RCV000023919, RCV003330400
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In 2 fetuses with Meckel syndrome type 10 (MKS10; 614175) who were born in a consanguineous family from Surinam with an Indian-Pakistani background, Dowdle et al. (2011) identified a homozygous 301A-C transversion in the B9D2 gene, resulting in a ser101-to-arg (S101R) substitution in a highly conserved residue within the B9 domain. The mutation was not detected in 688 control chromosomes. Studies of zebrafish knockouts showed that wildtype human B9D2 could rescue dosage-dependent ciliary defects, whereas the S101R mutant could not, consistent with its being a loss-of-function allele. The mutant allele localized properly to the basal body, but immunoprecipitation studies showed that the mutant S101R protein failed to interact with MKS1 (609883), although it retained its ability to interact with B9D1 (614144). The results indicated that a complex of B9 proteins cooperate to support mammalian ciliogenesis and ciliary protein localization. Disruption of any of the members of this complex can result in Meckel syndrome. The fetuses reported by Dowdle et al. (2011) had occipital encephalocele, postaxial polydactyly of the hands and feet, renal cysts, and hepatic ductal plate malformations; 1 fetus had anencephaly. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0002 JOUBERT SYNDROME 34</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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B9D2, LEU36PRO
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<br />
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SNP: rs757863670,
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gnomAD: rs757863670,
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ClinVar: RCV000201607, RCV002265682
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient (UW309-3) with Joubert syndrome (JBTS34; see 614175), Bachmann-Gagescu et al. (2015) identified homozygosity for a leu36-to-pro (L36P) substitution in the B9D2 gene. The mutation was identified by sequencing 27 candidate genes in 428 affected individuals from 363 families by molecular inversion probe targeted capture followed by next-generation sequencing. No functional studies of the variant were 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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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0003 JOUBERT SYNDROME 34</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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B9D2, GLY155SER
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<br />
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SNP: rs750436680,
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gnomAD: rs750436680,
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ClinVar: RCV000201776, RCV001844085, RCV002265681
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In a patient (UW284-3) with Joubert syndrome (JBTS34; see 614175), Bachmann-Gagescu et al. (2015) identified compound heterozygous mutations in the B9D2 gene: gly155-to-ser (G155S) inherited from the mother and pro74-to-ser (P74S; 611951.0004) inherited from the father. The mutation was identified by sequencing 27 candidate genes in 428 affected individuals from 363 families by molecular inversion probe targeted capture followed by next-generation sequencing. No functional studies of the variant were 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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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 JOUBERT SYNDROME 34</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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B9D2, PRO74SER
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<br />
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SNP: rs863225150,
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ClinVar: RCV000201694, RCV001844086, RCV002265683
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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 pro74-to-ser (P74S) mutation in the B9D2 gene that was identified in compound heterozygous state in a patient with Joubert syndrome (JBST34; see 614175) by Bachmann-Gagescu et al. (2015), see 611951.0003. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 MECKEL SYNDROME, TYPE 10</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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B9D2, HIS5GLN
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<br />
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SNP: rs1388769907,
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gnomAD: rs1388769907,
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ClinVar: RCV000993853
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an Indian fetus with Meckel syndrome (MKS10; 614175), Radhakrishnan et al. (2019) identified homozygosity for a c.15C-A transversion (c.15C-A, NM_030578.3) in exon 2 of the B9D2 gene, resulting in a his5-to-gln (H5Q) substitution at a highly conserved residue within the functional domain. The parents were heterozygous for the mutation, which was not found in the gnomAD database. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<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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Bachmann-Gagescu, R., Dempsey, J. C., Phelps, I. G., O'Roak, B. J., Knutzen, D. M., Rue, T. C., Ishak, G. E., Isabella, C. R., Gorden, N., Adkins, J., Boyle, E. A., de Lacy, N., and 17 others.
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<strong>Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.</strong>
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J. Med. Genet. 52: 514-522, 2015.
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[PubMed: 26092869]
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[Full Text: https://doi.org/10.1136/jmedgenet-2015-103087]
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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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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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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.
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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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Hartz, P. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 4/14/2008.
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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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Ponsard, C., Skowron-Zwarg, M., Seltzer, V., Perret, E., Gallinger, J., Fisch, C., Dupuis-Williams, P., Caruso, N., Middendorp, S., Tournier, F.
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<strong>Identification of ICIS-1, a new protein involved in ciliary stability.</strong>
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Radhakrishnan, P., Nayak, S. S., Shukla, A., Lindstrand, A., Girisha, K. M.
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<strong>Meckel syndrome: clinical and mutation profile in six fetuses.</strong>
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Town, T., Breunig, J. J., Sarkisian, M. R., Spilianakis, C., Ayoub, A. E., Liu, X., Ferrandino, A. F., Gallagher, A. R., Li, M. O., Rakic, P., Flavell, R. A.
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<strong>The stumpy gene is required for mammalian ciliogenesis.</strong>
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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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[PubMed: 21422230]
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[Full Text: https://doi.org/10.1083/jcb.201012116]
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