| http://purl.uniprot.org/citations/12374763 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12374763 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12374763 | http://www.w3.org/2000/01/rdf-schema#comment | "Paget's disease of bone (PDB) is a common disorder characterized by focal abnormalities of increased and disorganized bone turnover. Genetic factors are important in the pathogenesis of PDB, and in previous studies, we and others identified a locus for familial PDB by genome-wide search on 5q35-qter (PDB3). The gene encoding sequestosome 1 (SQSTM1/p62) maps to within the PDB3 critical region, and recent studies have identified a proline-leucine amino acid change at codon 392 of SQSTM1 (P392L) in French-Canadian patients with PDB. We conducted mutation screening of positional candidate genes in the PDB3 locus in patients with PDB, and also identified mutations in the gene encoding SQSTM1 as a common cause of familial and sporadic PDB. Three different mutations were found, all affecting the highly conserved ubiquitin-binding domain. The most common mutation was the P392L change in exon 8, which was found in 13 of 68 families (19.1%). Another mutation-a T insertion that introduces a stop codon at position 396 in exon 8-was found in four (5.8%) families. A third mutation affecting the splice donor site in intron 7 was found in one (1.5%) family. The P392L mutation was also found in 15 of 168 (8.9%) of patients with sporadic PDB and 0 of 160 of age- and sex-matched controls (P<0.0001). These studies confirm that mutations affecting the ubiquitin-binding domain of SQSTM1 are a common cause of familial and sporadic Paget's disease of bone."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/11.22.2735"xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/11.22.2735"xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Ward L."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Ward L."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Van Hul W."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Van Hul W."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Mangion J."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Mangion J."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Wuyts W."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Wuyts W."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Ralston S.H."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Ralston S.H."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Cundy T."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Cundy T."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Nicholson G.C."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Nicholson G.C."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Bennett S.T."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Bennett S.T."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Daroszewska A."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Daroszewska A."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Hocking L.J."xsd:string |
| http://purl.uniprot.org/citations/12374763 | http://purl.uniprot.org/core/author | "Hocking L.J."xsd:string |