| http://purl.uniprot.org/citations/23785305 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23785305 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23785305 | http://www.w3.org/2000/01/rdf-schema#comment | "Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ACC. A heterozygous Arg-to-His missense mutation (p.R930H) in the ribosomal GTPase BMS1 is identified in ACC that is associated with a delay in 18S rRNA maturation, consistent with a role of BMS1 in processing of pre-rRNAs of the small ribosomal subunit. Mutations that affect ribosomal function can result in a cell cycle defect and ACC skin fibroblasts with the BMS1 p.R930H mutation show a reduced cell proliferation rate due to a p21-mediated G1/S phase transition delay. Unbiased comparative global transcript and proteomic analyses of ACC fibroblasts with this mutation confirm a central role of increased p21 levels for the ACC phenotype, which are associated with downregulation of heterogenous nuclear ribonucleoproteins (hnRNPs) and serine/arginine-rich splicing factors (SRSFs). Functional enrichment analysis of the proteomic data confirmed a defect in RNA post-transcriptional modification as the top-ranked cellular process altered in ACC fibroblasts. The data provide a novel link between BMS1, the cell cycle, and skin morphogenesis."xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pgen.1003573"xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pgen.1003573"xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/author | "Marneros A.G."xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/author | "Marneros A.G."xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/name | "PLoS Genet."xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/name | "PLoS Genet."xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/pages | "E1003573"xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/pages | "E1003573"xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/title | "BMS1 is mutated in aplasia cutis congenita."xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/title | "BMS1 is mutated in aplasia cutis congenita."xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/volume | "9"xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://purl.uniprot.org/core/volume | "9"xsd:string |
| http://purl.uniprot.org/citations/23785305 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23785305 |
| http://purl.uniprot.org/citations/23785305 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23785305 |
| http://purl.uniprot.org/citations/23785305 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/23785305 |
| http://purl.uniprot.org/citations/23785305 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/23785305 |
| http://purl.uniprot.org/uniprot/Q14692 | http://purl.uniprot.org/core/citation | http://purl.uniprot.org/citations/23785305 |
| http://purl.uniprot.org/uniprot/Q14692#attribution-D6BA8BA4ACE280F4ADF9B9035763A0B4 | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/23785305 |
| http://purl.uniprot.org/uniprot/#_Q14692-citation-23785305 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23785305 |