3246 lines
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Entry
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- *604175 - RIBOSOMAL PROTEIN L11; RPL11
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- OMIM
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<p>
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<span class="h4">*604175</span>
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<br />
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<strong>Table of Contents</strong>
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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="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/604175">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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<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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<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=ENSG00000142676;t=ENST00000643754" 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=6135" 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=604175" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000142676;t=ENST00000643754" 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_000975,NM_001199802" 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_000975" 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=604175" 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=10364&isoform_id=10364_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/RPL11" 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/495126,3115334,4432750,4433197,14719845,15431290,17512001,19851919,51702795,59896138,119615473,119615474,189053137,315221152" 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/P62913" 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 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=6135" 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=ENSG00000142676;t=ENST00000643754" 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=RPL11" 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=RPL11" 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+6135" 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/RPL11" 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:6135" 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/6135" 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=chr1&hgg_gene=ENST00000643754.2&hgg_start=23691779&hgg_end=23696835&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/rpl11" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604175[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=604175[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/ENSG00000142676" 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.gwascentral.org/search?q=RPL11" 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=RPL11" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.dbagenes.unito.it/home.php?select_db=RPL11" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=RPL11&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/PA34664" 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:10301" 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/FBgn0013325.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:1914275" 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/RPL11#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:1914275" 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/6135/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=6135" 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="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00004422;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00004422 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00004423;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00004423 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-040625-147" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6135" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=RPL11&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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604175
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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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RIBOSOMAL PROTEIN L11; RPL11
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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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<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=RPL11" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RPL11</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>
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Cytogenetic location: <a href="/geneMap/1/275?start=-3&limit=10&highlight=275">1p36.11</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:23691779-23696835&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'})">1:23,691,779-23,696,835</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<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>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
|
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<a href="/geneMap/1/275?start=-3&limit=10&highlight=275">
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1p36.11
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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">
|
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Diamond-Blackfan anemia 7
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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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<a href="/entry/612562"> 612562 </a>
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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="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/604175" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/604175" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
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|
<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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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The mammalian ribosome is composed of 4 RNA species (see <a href="/entry/180450">180450</a>) and approximately 80 different proteins (see <a href="/entry/180466">180466</a>), including RPL11 (<a href="#8" class="mim-tip-reference" title="Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C. <strong>A map of 75 human ribosomal protein genes.</strong> Genome Res. 8: 509-523, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>] [<a href="https://doi.org/10.1101/gr.8.5.509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582194">Kenmochi et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582194" 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 PCR, <a href="#9" class="mim-tip-reference" title="Mishin, V. P., Filipenko, M. L., Muravlev, A. I., Karpova, G. G., Mertvetsov, N. P. <strong>Cloning and determination of the primary structure of DNA complementary to the mRNA of human ribosomal protein L11.</strong> Bioorg. Khim. 21: 158-160, 1995. Note: Article in Russian.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7748210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7748210</a>]" pmid="7748210">Mishin et al. (1995)</a> isolated a human placenta cDNA encoding RPL11. The deduced RPL11 protein has 178 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7748210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., and 17 others. <strong>The ribosomal basis of Diamond-Blackfan anemia: mutation and database update.</strong> Hum. Mutat. 31: 1269-1279, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20960466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20960466</a>] [<a href="https://doi.org/10.1002/humu.21383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20960466">Boria et al. (2010)</a> stated that the RPL11 gene contains 6 exons spanning 4.6 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20960466" 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 somatic cell hybrid and radiation hybrid mapping analyses, <a href="#8" class="mim-tip-reference" title="Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C. <strong>A map of 75 human ribosomal protein genes.</strong> Genome Res. 8: 509-523, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>] [<a href="https://doi.org/10.1101/gr.8.5.509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582194">Kenmochi et al. (1998)</a> mapped the human RPL11 gene to chromosome 1p. <a href="#7" class="mim-tip-reference" title="Graphodatsky, A. S., Vorobieva, N. V., Filipenko, M. L., Voronina, E. V., Frengen, E., Prydz, H. <strong>Assignment of the L11 ribosomal protein gene (RPL11) to human chromosome 1p36.1-p35 by in situ hybridization.</strong> Cytogenet. Cell Genet. 84: 97-98, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10343117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10343117</a>] [<a href="https://doi.org/10.1159/000015228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10343117">Graphodatsky et al. (1999)</a> localized the RPL11 gene to chromosome 1p36.1-p35 using FISH. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10343117+9582194" 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>Impeding ribosomal biogenesis generates ribosomal stress that activates p53 (TP53; <a href="/entry/191170">191170</a>) to stop cell growth. <a href="#2" class="mim-tip-reference" title="Dai, M.-S., Shi, D., Jin, Y., Sun, X.-X., Zhang, Y., Grossman, S. R., Lu, H. <strong>Regulation of the MDM2-p53 pathway by ribosomal protein L11 involves a post-ubiquitination mechanism.</strong> J. Biol. Chem. 281: 24304-24313, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16803902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16803902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16803902[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1074/jbc.M602596200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16803902">Dai et al. (2006)</a> stated that ribosomal proteins L5 (RPL5; <a href="/entry/603634">603634</a>), L11, and L23 (RPL23; <a href="/entry/603662">603662</a>) interact with MDM2 (<a href="/entry/164785">164785</a>) and inhibit MDM2-mediated p53 ubiquitination and degradation in response to ribosomal stress. They found that L5 and L23 inhibited MDM2 autoubiquitination and MDM2-mediated ubiquitination of p53 in human cell lines. In contrast, L11 increased the cellular level of ubiquitinated MDM2 and stabilized p53. These effects required the autoubiquitination activity of MDM2 and involved direct binding of L11 to MDM2 via its central MDM2-binding domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16803902" 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="Fumagalli, S., Di Cara, A., Neb-Gulati, A., Natt, F., Schwemberger, S., Hall, J., Babcock, G. F., Bernardi, R., Pandolfi, P. P., Thomas, G. <strong>Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction.</strong> Nature Cell Biol. 11: 501-508, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19287375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19287375</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19287375[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncb1858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19287375">Fumagalli et al. (2009)</a> showed that RPL11-mediated p53 induction in human cell lines was a general response to inhibition of 40S or 60S ribosome biogenesis and did not require nucleolar disruption. Inhibition of 40S ribosome biogenesis led to increased ribosome-free RPL11 due to derepression of the polypyrimidine tract at its 5-prime transcriptional start site (the 5-prime TOP), followed by increased RPL11 mRNA translation. <a href="#4" class="mim-tip-reference" title="Fumagalli, S., Di Cara, A., Neb-Gulati, A., Natt, F., Schwemberger, S., Hall, J., Babcock, G. F., Bernardi, R., Pandolfi, P. P., Thomas, G. <strong>Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction.</strong> Nature Cell Biol. 11: 501-508, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19287375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19287375</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19287375[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ncb1858" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19287375">Fumagalli et al. (2009)</a> hypothesized that impairment of the assembly of RPL11 into nascent 60S ribosomes allows excess RPL11 to inhibit MDM2 and stabilize p53. In contrast, when 40S ribosome biogenesis is impaired, 60S ribosome biogenesis continues, leading to translational upregulation of mRNAs with 5-prime TOPs, including that for RPL11, despite inhibition of global protein synthesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19287375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Sasaki, M., Kawahara, K., Nishio, M., Mimori, K., Kogo, R., Hamada, K., Itoh, B., Wang, J., Komatsu, Y., Yang, Y. R., Hikasa, H., Horie, Y., and 11 others. <strong>Regulation of the MDM2-P53 pathway and tumor growth by PICT1 via nucleolar RPL11.</strong> Nature Med. 17: 944-951, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21804542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21804542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nm.2392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21804542">Sasaki et al. (2011)</a> found that conditional deletion of Pict1 (GLTSCR2; <a href="/entry/605691">605691</a>) expression in mouse embryonic stem (ES) cells inhibited cell growth due to cell cycle arrest and enhanced apoptosis. Mass spectrometric analysis of peptides that immunoprecipitated with epitope-tagged PICT1 in transfected 293T cells showed that PICT1 interacted with RPL11. Knockdown of Pict1 in mouse ES cells resulted in translocation of Rpl11 from the nucleolus to the nucleoplasm, permitting its interaction with Mdm2 and inhibition of p53 ubiquitination. <a href="#10" class="mim-tip-reference" title="Sasaki, M., Kawahara, K., Nishio, M., Mimori, K., Kogo, R., Hamada, K., Itoh, B., Wang, J., Komatsu, Y., Yang, Y. R., Hikasa, H., Horie, Y., and 11 others. <strong>Regulation of the MDM2-P53 pathway and tumor growth by PICT1 via nucleolar RPL11.</strong> Nature Med. 17: 944-951, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21804542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21804542[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nm.2392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21804542">Sasaki et al. (2011)</a> concluded that PICT1 is a potent regulator of the MDM2-p53 pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21804542" 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="Ebina, M., Tsuruta, F., Katoh, M. C., Kigoshi, Y., Someya, A., Chiba, T. <strong>Myeloma overexpressed 2 (Myeov2) regulates L11 subnuclear localization through Nedd8 modification.</strong> PLoS One 8: e65285, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23776465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23776465</a>] [<a href="https://doi.org/10.1371/journal.pone.0065285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23776465">Ebina et al. (2013)</a> noted that most L11 is neddylated and localizes in nucleolus. In response to nucleolar stress, L11 is deneddylated and relocates to the nucleoplasm, leading to activation of the p53 pathway. The authors found that expression of MYEOV2 (COPS9; <a href="/entry/619349">619349</a>) blocked L11 neddylation, which was mediated NEDP1 (SENP8; <a href="/entry/608659">608659</a>) independently of MYEOV2. Consequently, MYEOV2 suppressed translocation of L11 into nucleolus from nucleoplasm, upregulating p53 transcriptional activity and making cells sensitive to a variety of stresses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23776465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="/allelicVariants/604175" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604175[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121434389 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434389;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121434389" 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=rs121434389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006107 OR RCV000695992 OR RCV001588800" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006107, RCV000695992, RCV001588800" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006107...</a>
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<p>In a female patient in whom Diamond-Blackfan anemia (DBA7; <a href="/entry/612562">612562</a>) was diagnosed at 2 months of age, who also had triphalangeal thumbs, <a href="#5" class="mim-tip-reference" title="Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others. <strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong> Am. J. Hum. Genet. 83: 769-780, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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.2008.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061985">Gazda et al. (2008)</a> identified heterozygosity for a de novo 223C-T transition in exon 3 of the RPL11 gene, resulting in an arg75-to-ter (R75X) substitution. The mutation was not found in her unaffected parents or in at least 150 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061985" 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">rs1570566590 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1570566590;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1570566590" 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=rs1570566590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006108 OR RCV002354149 OR RCV003415663" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006108, RCV002354149, RCV003415663" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006108...</a>
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<p>In a female patient in whom Diamond-Blackfan anemia (DBA7; <a href="/entry/612562">612562</a>) was diagnosed at 9 months of age, who also had triphalangeal thumbs, ventricular septal defect, and a narrow pulmonary artery, <a href="#5" class="mim-tip-reference" title="Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others. <strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong> Am. J. Hum. Genet. 83: 769-780, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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.2008.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061985">Gazda et al. (2008)</a> identified heterozygosity for a 2-bp deletion (60delCT) in exon 2 of the RPL11 gene, resulting in a frameshift causing a termination sequence at codon 53. The mutation was also identified in her affected mother and grandmother, who both had associated triphalangeal thumbs, but was not found in at least 150 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 DIAMOND-BLACKFAN ANEMIA 7</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1570569083 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1570569083;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1570569083" 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=rs1570569083" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006109 OR RCV005089186" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006109, RCV005089186" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006109...</a>
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<p>In a female patient in whom Diamond-Blackfan anemia (DBA7; <a href="/entry/612562">612562</a>) was diagnosed at 2 months of age and who had no associated malformations, <a href="#5" class="mim-tip-reference" title="Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others. <strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong> Am. J. Hum. Genet. 83: 769-780, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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.2008.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061985">Gazda et al. (2008)</a> identified heterozygosity for a 3-bp deletion (482delAGG) in exon 5 of the RPL11 gene, resulting in deletion of glu161 (E161del). The mutation was identified in her affected mother, who also had no associated malformations, but was not found in at least 150 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061985" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 DIAMOND-BLACKFAN ANEMIA 7</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs151155897 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs151155897;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs151155897" 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=rs151155897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000006110 OR RCV001216188" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000006110, RCV001216188" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000006110...</a>
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<p>In 2 male patients with Diamond-Blackfan anemia (DBA7; <a href="/entry/612562">612562</a>), who both had associated malformations, <a href="#5" class="mim-tip-reference" title="Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others. <strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong> Am. J. Hum. Genet. 83: 769-780, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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.2008.11.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19061985">Gazda et al. (2008)</a> identified heterozygosity for a G-A transition at the acceptor splice site in intron 2 (IVS2AS-1G-A) of the RPL11 gene. Associated features in 1 patient included a flat thenar muscle and small jaw, whereas the other patient had tetralogy of Fallot and bilateral grade 3 vesicoureteral reflux. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19061985" 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">rs587777119 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777119;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777119" 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=rs587777119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000087040" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087040" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087040</a>
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<p>In a 7-year-old Caucasian boy with Diamond-Blackfan anemia-7 (DBA7; <a href="/entry/612562">612562</a>), <a href="#6" class="mim-tip-reference" title="Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A. <strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong> Brit. J. Haemat. 162: 530-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23718193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23718193</a>] [<a href="https://doi.org/10.1111/bjh.12397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23718193">Gerrard et al. (2013)</a> identified a heterozygous 2-bp deletion (c.475_476delAA) in exon 5 of the RPL11 gene, resulting in a frameshift and premature termination in exon 6. The patient was diagnosed at birth and had elevated erythrocyte adenosine deaminase. He also had patent ductus arteriosus, hypoplastic thumbs, recurrent chest infections, and vitamin D deficiency. The disorder was steroid-responsive. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23718193" 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>.0006 DIAMOND-BLACKFAN ANEMIA 7</strong>
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RPL11, 1-BP DEL, 203T
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587777120 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587777120;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587777120" 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=rs587777120" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000087041" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000087041" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000087041</a>
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<p>In a 5-year-old Indian girl (patient CZ02) with Diamond-Blackfan anemia (DBA7; <a href="/entry/612562">612562</a>), <a href="#6" class="mim-tip-reference" title="Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A. <strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong> Brit. J. Haemat. 162: 530-536, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23718193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23718193</a>] [<a href="https://doi.org/10.1111/bjh.12397" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23718193">Gerrard et al. (2013)</a> identified a heterozygous 1-bp deletion (c.203delT) in exon 3 of the RPL11 gene, resulting in a frameshift and premature termination in exon 3. The patient was diagnosed at age 3 months. She had growth retardation and recurrent infections, and was transfusion-dependent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23718193" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Boria2010" class="mim-anchor"></a>
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Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., and 17 others.
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<strong>The ribosomal basis of Diamond-Blackfan anemia: mutation and database update.</strong>
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Hum. Mutat. 31: 1269-1279, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20960466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20960466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20960466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/humu.21383" target="_blank">Full Text</a>]
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<a id="Dai2006" class="mim-anchor"></a>
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Dai, M.-S., Shi, D., Jin, Y., Sun, X.-X., Zhang, Y., Grossman, S. R., Lu, H.
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<strong>Regulation of the MDM2-p53 pathway by ribosomal protein L11 involves a post-ubiquitination mechanism.</strong>
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J. Biol. Chem. 281: 24304-24313, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16803902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16803902</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16803902[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=16803902" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M602596200" target="_blank">Full Text</a>]
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<a id="Ebina2013" class="mim-anchor"></a>
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Ebina, M., Tsuruta, F., Katoh, M. C., Kigoshi, Y., Someya, A., Chiba, T.
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<strong>Myeloma overexpressed 2 (Myeov2) regulates L11 subnuclear localization through Nedd8 modification.</strong>
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PLoS One 8: e65285, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23776465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23776465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23776465" 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/10.1371/journal.pone.0065285" target="_blank">Full Text</a>]
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<a id="Fumagalli2009" class="mim-anchor"></a>
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Fumagalli, S., Di Cara, A., Neb-Gulati, A., Natt, F., Schwemberger, S., Hall, J., Babcock, G. F., Bernardi, R., Pandolfi, P. P., Thomas, G.
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<strong>Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction.</strong>
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Nature Cell Biol. 11: 501-508, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19287375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19287375</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19287375[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=19287375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ncb1858" target="_blank">Full Text</a>]
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<a id="Gazda2008" class="mim-anchor"></a>
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Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others.
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<strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong>
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Am. J. Hum. Genet. 83: 769-780, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19061985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19061985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19061985[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=19061985" 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.2008.11.004" target="_blank">Full Text</a>]
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<a id="Gerrard2013" class="mim-anchor"></a>
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Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A.
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<strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong>
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Brit. J. Haemat. 162: 530-536, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23718193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23718193</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23718193" 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/bjh.12397" target="_blank">Full Text</a>]
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<a id="Graphodatsky1999" class="mim-anchor"></a>
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Graphodatsky, A. S., Vorobieva, N. V., Filipenko, M. L., Voronina, E. V., Frengen, E., Prydz, H.
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<strong>Assignment of the L11 ribosomal protein gene (RPL11) to human chromosome 1p36.1-p35 by in situ hybridization.</strong>
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Cytogenet. Cell Genet. 84: 97-98, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10343117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10343117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10343117" 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/10.1159/000015228" target="_blank">Full Text</a>]
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Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C.
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<strong>A map of 75 human ribosomal protein genes.</strong>
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Genome Res. 8: 509-523, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1101/gr.8.5.509" target="_blank">Full Text</a>]
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Mishin, V. P., Filipenko, M. L., Muravlev, A. I., Karpova, G. G., Mertvetsov, N. P.
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<strong>Cloning and determination of the primary structure of DNA complementary to the mRNA of human ribosomal protein L11.</strong>
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Bioorg. Khim. 21: 158-160, 1995. Note: Article in Russian.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7748210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7748210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7748210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Sasaki, M., Kawahara, K., Nishio, M., Mimori, K., Kogo, R., Hamada, K., Itoh, B., Wang, J., Komatsu, Y., Yang, Y. R., Hikasa, H., Horie, Y., and 11 others.
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<strong>Regulation of the MDM2-P53 pathway and tumor growth by PICT1 via nucleolar RPL11.</strong>
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Nature Med. 17: 944-951, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21804542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21804542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21804542[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=21804542" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nm.2392" target="_blank">Full Text</a>]
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Bao Lige - updated : 05/27/2021
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Cassandra L. Kniffin - updated : 2/19/2014<br>Patricia A. Hartz - updated : 12/19/2011<br>Cassandra L. Kniffin - updated : 3/24/2011<br>Patricia A. Hartz - updated : 1/20/2010<br>Marla J. F. O'Neill - updated : 1/26/2009
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Patti M. Sherman : 9/17/1999
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/06/2018<br>carol : 02/20/2014<br>mcolton : 2/20/2014<br>ckniffin : 2/19/2014<br>mgross : 12/19/2011<br>mgross : 12/19/2011<br>terry : 12/19/2011<br>wwang : 3/24/2011<br>mgross : 1/21/2010<br>terry : 1/20/2010<br>wwang : 1/29/2009<br>terry : 1/26/2009<br>psherman : 9/21/1999<br>mgross : 9/20/1999<br>psherman : 9/17/1999
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 604175
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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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RIBOSOMAL PROTEIN L11; RPL11
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RPL11</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: 1p36.11
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:23,691,779-23,696,835 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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1p36.11
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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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Diamond-Blackfan anemia 7
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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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612562
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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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>The mammalian ribosome is composed of 4 RNA species (see 180450) and approximately 80 different proteins (see 180466), including RPL11 (Kenmochi et al., 1998). </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 PCR, Mishin et al. (1995) isolated a human placenta cDNA encoding RPL11. The deduced RPL11 protein has 178 amino acids. </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 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>Boria et al. (2010) stated that the RPL11 gene contains 6 exons spanning 4.6 kb. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi et al. (1998) mapped the human RPL11 gene to chromosome 1p. Graphodatsky et al. (1999) localized the RPL11 gene to chromosome 1p36.1-p35 using FISH. </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>Impeding ribosomal biogenesis generates ribosomal stress that activates p53 (TP53; 191170) to stop cell growth. Dai et al. (2006) stated that ribosomal proteins L5 (RPL5; 603634), L11, and L23 (RPL23; 603662) interact with MDM2 (164785) and inhibit MDM2-mediated p53 ubiquitination and degradation in response to ribosomal stress. They found that L5 and L23 inhibited MDM2 autoubiquitination and MDM2-mediated ubiquitination of p53 in human cell lines. In contrast, L11 increased the cellular level of ubiquitinated MDM2 and stabilized p53. These effects required the autoubiquitination activity of MDM2 and involved direct binding of L11 to MDM2 via its central MDM2-binding domain. </p><p>Fumagalli et al. (2009) showed that RPL11-mediated p53 induction in human cell lines was a general response to inhibition of 40S or 60S ribosome biogenesis and did not require nucleolar disruption. Inhibition of 40S ribosome biogenesis led to increased ribosome-free RPL11 due to derepression of the polypyrimidine tract at its 5-prime transcriptional start site (the 5-prime TOP), followed by increased RPL11 mRNA translation. Fumagalli et al. (2009) hypothesized that impairment of the assembly of RPL11 into nascent 60S ribosomes allows excess RPL11 to inhibit MDM2 and stabilize p53. In contrast, when 40S ribosome biogenesis is impaired, 60S ribosome biogenesis continues, leading to translational upregulation of mRNAs with 5-prime TOPs, including that for RPL11, despite inhibition of global protein synthesis. </p><p>Sasaki et al. (2011) found that conditional deletion of Pict1 (GLTSCR2; 605691) expression in mouse embryonic stem (ES) cells inhibited cell growth due to cell cycle arrest and enhanced apoptosis. Mass spectrometric analysis of peptides that immunoprecipitated with epitope-tagged PICT1 in transfected 293T cells showed that PICT1 interacted with RPL11. Knockdown of Pict1 in mouse ES cells resulted in translocation of Rpl11 from the nucleolus to the nucleoplasm, permitting its interaction with Mdm2 and inhibition of p53 ubiquitination. Sasaki et al. (2011) concluded that PICT1 is a potent regulator of the MDM2-p53 pathway. </p><p>Ebina et al. (2013) noted that most L11 is neddylated and localizes in nucleolus. In response to nucleolar stress, L11 is deneddylated and relocates to the nucleoplasm, leading to activation of the p53 pathway. The authors found that expression of MYEOV2 (COPS9; 619349) blocked L11 neddylation, which was mediated NEDP1 (SENP8; 608659) independently of MYEOV2. Consequently, MYEOV2 suppressed translocation of L11 into nucleolus from nucleoplasm, upregulating p53 transcriptional activity and making cells sensitive to a variety of stresses. </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>Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia (see DBA7, 612562) for mutations in 25 genes encoding ribosomal proteins and identified 11 different mutations in the RPL11 gene in 13 probands and 5 additional family members (see, e.g., 604175.0001-604175.0004). The mutations segregated with disease in multiplex families and were not found in at least 150 controls. Analysis of pre-rRNAs from lymphoblastoid cells established from DBA patients revealed accumulation of 32S and 12S pre-rRNA as well as smaller precursors of 5.8S rRNA compared to controls, indicating defective maturation of internal transcribed spacer-2 (ITS2) both at the initial endonucleolytic cleavage in the 32S pre-rRNA and during subsequent processing steps. </p><p>Gerrard et al. (2013) identified heterozygous truncating mutations in the RPL11 gene (see, e.g., 604175.0005-604175.0006) in 3 of 19 patients with DBA who were screened for mutations in 80 ribosomal protein genes. </p>
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|
</span>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>6 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DIAMOND-BLACKFAN ANEMIA 7</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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|
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RPL11, ARG75TER
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|
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<br />
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|
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SNP: rs121434389,
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|
|
ClinVar: RCV000006107, RCV000695992, RCV001588800
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient in whom Diamond-Blackfan anemia (DBA7; 612562) was diagnosed at 2 months of age, who also had triphalangeal thumbs, Gazda et al. (2008) identified heterozygosity for a de novo 223C-T transition in exon 3 of the RPL11 gene, resulting in an arg75-to-ter (R75X) substitution. The mutation was not found in her unaffected parents or in at least 150 controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 DIAMOND-BLACKFAN ANEMIA 7</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
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|
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RPL11, 2-BP DEL, 60CT
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|
|
<br />
|
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|
|
SNP: rs1570566590,
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|
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ClinVar: RCV000006108, RCV002354149, RCV003415663
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|
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</span>
|
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</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a female patient in whom Diamond-Blackfan anemia (DBA7; 612562) was diagnosed at 9 months of age, who also had triphalangeal thumbs, ventricular septal defect, and a narrow pulmonary artery, Gazda et al. (2008) identified heterozygosity for a 2-bp deletion (60delCT) in exon 2 of the RPL11 gene, resulting in a frameshift causing a termination sequence at codon 53. The mutation was also identified in her affected mother and grandmother, who both had associated triphalangeal thumbs, but was not found in at least 150 controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 DIAMOND-BLACKFAN ANEMIA 7</strong>
|
|
</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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RPL11, 3-BP DEL, 482AGG
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<br />
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SNP: rs1570569083,
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ClinVar: RCV000006109, RCV005089186
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a female patient in whom Diamond-Blackfan anemia (DBA7; 612562) was diagnosed at 2 months of age and who had no associated malformations, Gazda et al. (2008) identified heterozygosity for a 3-bp deletion (482delAGG) in exon 5 of the RPL11 gene, resulting in deletion of glu161 (E161del). The mutation was identified in her affected mother, who also had no associated malformations, but was not found in at least 150 controls. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0004 DIAMOND-BLACKFAN ANEMIA 7</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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RPL11, IVS2AS, G-A, -1
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<br />
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SNP: rs151155897,
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ClinVar: RCV000006110, RCV001216188
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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 male patients with Diamond-Blackfan anemia (DBA7; 612562), who both had associated malformations, Gazda et al. (2008) identified heterozygosity for a G-A transition at the acceptor splice site in intron 2 (IVS2AS-1G-A) of the RPL11 gene. Associated features in 1 patient included a flat thenar muscle and small jaw, whereas the other patient had tetralogy of Fallot and bilateral grade 3 vesicoureteral reflux. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>.0005 DIAMOND-BLACKFAN ANEMIA 7</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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RPL11, 2-BP DEL, 475AA
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<br />
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SNP: rs587777119,
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ClinVar: RCV000087040
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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 7-year-old Caucasian boy with Diamond-Blackfan anemia-7 (DBA7; 612562), Gerrard et al. (2013) identified a heterozygous 2-bp deletion (c.475_476delAA) in exon 5 of the RPL11 gene, resulting in a frameshift and premature termination in exon 6. The patient was diagnosed at birth and had elevated erythrocyte adenosine deaminase. He also had patent ductus arteriosus, hypoplastic thumbs, recurrent chest infections, and vitamin D deficiency. The disorder was steroid-responsive. </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>.0006 DIAMOND-BLACKFAN ANEMIA 7</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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RPL11, 1-BP DEL, 203T
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<br />
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|
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SNP: rs587777120,
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ClinVar: RCV000087041
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 5-year-old Indian girl (patient CZ02) with Diamond-Blackfan anemia (DBA7; 612562), Gerrard et al. (2013) identified a heterozygous 1-bp deletion (c.203delT) in exon 3 of the RPL11 gene, resulting in a frameshift and premature termination in exon 3. The patient was diagnosed at age 3 months. She had growth retardation and recurrent infections, and was transfusion-dependent. </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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<span class="mim-font">
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<strong>REFERENCES</strong>
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Boria, I., Garelli, E., Gazda, H. T., Aspesi, A., Quarello, P., Pavesi, E., Ferrante, D., Meerpohl, J. J., Kartal, M., Da Costa, L., Proust, A., Leblanc, T., and 17 others.
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<strong>The ribosomal basis of Diamond-Blackfan anemia: mutation and database update.</strong>
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Hum. Mutat. 31: 1269-1279, 2010.
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[PubMed: 20960466]
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[Full Text: https://doi.org/10.1002/humu.21383]
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Dai, M.-S., Shi, D., Jin, Y., Sun, X.-X., Zhang, Y., Grossman, S. R., Lu, H.
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<strong>Regulation of the MDM2-p53 pathway by ribosomal protein L11 involves a post-ubiquitination mechanism.</strong>
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J. Biol. Chem. 281: 24304-24313, 2006.
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[PubMed: 16803902]
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[Full Text: https://doi.org/10.1074/jbc.M602596200]
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Ebina, M., Tsuruta, F., Katoh, M. C., Kigoshi, Y., Someya, A., Chiba, T.
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<strong>Myeloma overexpressed 2 (Myeov2) regulates L11 subnuclear localization through Nedd8 modification.</strong>
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PLoS One 8: e65285, 2013.
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[PubMed: 23776465]
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[Full Text: https://doi.org/10.1371/journal.pone.0065285]
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Fumagalli, S., Di Cara, A., Neb-Gulati, A., Natt, F., Schwemberger, S., Hall, J., Babcock, G. F., Bernardi, R., Pandolfi, P. P., Thomas, G.
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<strong>Absence of nucleolar disruption after impairment of 40S ribosome biogenesis reveals an rpL11-translation-dependent mechanism of p53 induction.</strong>
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Nature Cell Biol. 11: 501-508, 2009.
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[PubMed: 19287375]
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[Full Text: https://doi.org/10.1038/ncb1858]
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Gazda, H. T., Sheen, M. R., Vlachos, A., Choesmel, V., O'Donohue, M.-F., Schneider, H., Darras, N., Hasman, C., Sieff, C. A., Newburger, P. E., Ball, S. E., Niewiadomska, E., and 9 others.
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<strong>Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.</strong>
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Am. J. Hum. Genet. 83: 769-780, 2008.
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[PubMed: 19061985]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.11.004]
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Gerrard, G., Valganon, M., Foong, H. E., Kasperaviciute, D., Iskander, D., Game, L., Muller, M., Aitman, T. J., Roberts, I., de la Fuente, J., Foroni, L., Karadimitris, A.
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<strong>Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.</strong>
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Brit. J. Haemat. 162: 530-536, 2013.
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[PubMed: 23718193]
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[Full Text: https://doi.org/10.1111/bjh.12397]
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Graphodatsky, A. S., Vorobieva, N. V., Filipenko, M. L., Voronina, E. V., Frengen, E., Prydz, H.
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<strong>Assignment of the L11 ribosomal protein gene (RPL11) to human chromosome 1p36.1-p35 by in situ hybridization.</strong>
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Cytogenet. Cell Genet. 84: 97-98, 1999.
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[PubMed: 10343117]
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[Full Text: https://doi.org/10.1159/000015228]
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Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C.
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<strong>A map of 75 human ribosomal protein genes.</strong>
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Genome Res. 8: 509-523, 1998.
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[PubMed: 9582194]
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[Full Text: https://doi.org/10.1101/gr.8.5.509]
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Mishin, V. P., Filipenko, M. L., Muravlev, A. I., Karpova, G. G., Mertvetsov, N. P.
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<strong>Cloning and determination of the primary structure of DNA complementary to the mRNA of human ribosomal protein L11.</strong>
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Bioorg. Khim. 21: 158-160, 1995. Note: Article in Russian.
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[PubMed: 7748210]
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Sasaki, M., Kawahara, K., Nishio, M., Mimori, K., Kogo, R., Hamada, K., Itoh, B., Wang, J., Komatsu, Y., Yang, Y. R., Hikasa, H., Horie, Y., and 11 others.
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<strong>Regulation of the MDM2-P53 pathway and tumor growth by PICT1 via nucleolar RPL11.</strong>
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Nature Med. 17: 944-951, 2011.
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[PubMed: 21804542]
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[Full Text: https://doi.org/10.1038/nm.2392]
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Bao Lige - updated : 05/27/2021<br>Cassandra L. Kniffin - updated : 2/19/2014<br>Patricia A. Hartz - updated : 12/19/2011<br>Cassandra L. Kniffin - updated : 3/24/2011<br>Patricia A. Hartz - updated : 1/20/2010<br>Marla J. F. O'Neill - updated : 1/26/2009
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Patti M. Sherman : 9/17/1999
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