http://purl.uniprot.org/citations/15146436 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15146436 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/15146436 | http://www.w3.org/2000/01/rdf-schema#comment | "ObjectiveTo estimate the occurrence of familial Paget's disease of bone in The Netherlands, to examine the prevalence of mutations of the sequestosome 1 gene (SQSTM1) in identified families, and to assess potential genotype-phenotype associations.MethodsWe performed a case-control study of patients with Paget's disease and a mutation analysis of the SQSTM1 gene of index patients with familial disease and of the relatives of those with a mutation. Serum alkaline phosphatase (AP) activity was assessed, and bone scintigraphy was performed.ResultsFive percent of patients had at least 1 first-degree relative with the disease, compared with 0.5% of the controls (relative risk 10; 95% confidence interval 1.3-75.6). In 38.9% of patients with familial disease, heterozygous mutations in the SQSTM1 gene were identified. These were the previously described P392L mutation, which was present in 22.2% of patients, and 3 new mutations, S399P, G425R, M404T, 9 of which were present in 3 different families. All mutations were located in the ubiquitin-associated domain of the gene. There was a relationship between serum AP activity, as a marker of the disease, and the presence or absence of the G425R and P392L mutations, the subject's age, and the presence of Paget's disease.ConclusionOur data provide further evidence of a causal role of SQSTM1 gene mutations in the pathogenesis of Paget's disease and allow the design of a strategy based on measurements of serum AP activity and age for investigating asymptomatic relatives of patients with familial Paget's disease of bone."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.org/dc/terms/identifier | "doi:10.1002/art.20224"xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.org/dc/terms/identifier | "doi:10.1002/art.20224"xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Zwinderman A.H."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Zwinderman A.H."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Papapoulos S.E."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Papapoulos S.E."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Karperien M."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Karperien M."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Kneppers A.L.J."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Kneppers A.L.J."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Dragoiescu C."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Dragoiescu C."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Eekhoff E.W.M."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Eekhoff E.W.M."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Houtsma D."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/author | "Houtsma D."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/name | "Arthritis Rheum."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/name | "Arthritis Rheum."xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/pages | "1650-1654"xsd:string |
http://purl.uniprot.org/citations/15146436 | http://purl.uniprot.org/core/pages | "1650-1654"xsd:string |