| http://purl.uniprot.org/citations/17273978 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17273978 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/17273978 | http://www.w3.org/2000/01/rdf-schema#comment | "We reevaluated a previously reported family with an X-linked mental retardation syndrome and attempted to identify the underlying genetic defect. Screening of candidate genes in a 10-Mb region on Xq25 implicated CUL4B as the causative gene. CUL4B encodes a scaffold protein that organizes a cullin-RING (really interesting new gene) ubiquitin ligase (E3) complex in ubiquitylation. A base substitution, c.1564C-->T, converted a codon for arginine into a premature termination codon, p.R388X, and rendered the truncated peptide completely devoid of the C-terminal catalytic domain. The nonsense mutation also results in nonsense-mediated mRNA decay in patients. In peripheral leukocytes of obligate carriers, a strong selection against cells expressing the mutant allele results in an extremely skewed X-chromosome inactivation pattern. Our findings point to the functional significance of CUL4B in cognition and in other aspects of human development."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.org/dc/terms/identifier | "doi:10.1086/512489"xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.org/dc/terms/identifier | "doi:10.1086/512489"xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Chen B."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Chen B."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Gong Y."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Gong Y."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Guo Y."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Guo Y."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Liu Q."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Liu Q."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Li J."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Li J."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Guo C."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Guo C."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Shao C."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Shao C."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Zhang X."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Zhang X."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Zhou H."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Zhou H."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Wei J."xsd:string |
| http://purl.uniprot.org/citations/17273978 | http://purl.uniprot.org/core/author | "Wei J."xsd:string |