FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023377460> ?p ?o ?g. }

• W2023377460 endingPage "398" @default.
• W2023377460 startingPage "393" @default.
• W2023377460 abstract "To search for association with environmental factors and to determine SQSTM1/p62 mutations prevalence in French families with Paget's disease of bone (PDB).Unrelated patients with a confirmed diagnosis of PDB were recruited in three Rheumatology departments and informed consent obtained. First- and second-degree relatives of each index case had a physical examination, blood taken for DNA extraction and biochemical measurements, and a whole-body bone scan. Exons 7 and 8 and exon-intron boundaries of SQSTM1/p62 (p62) gene were PCR-amplified before sequencing. Haplotype carriers of the p62(P392L) mutation were determined. Comparisons between PDB patients and healthy relatives were performed.We investigated 18 families consisting of 83 individuals: 20 patients with known PDB, three relatives with newly-diagnosed PDB and 60 healthy relatives. Index cases and/or relatives with Dupuytren's disease were found in eight (44.4%) out of the 18 families. Forty-three percent of PDB patients were former or current tobacco users versus 18% of healthy relatives (P=0.02; OR=3.37 (1.04-11.09)). Five index cases (27.8%) were carriers of SQSTM1/p62 mutations: three p62(P392L) mutations, one p62(P392L/A390X) double mutation and one p62(A390X) mutation. The p62(P392L) mutation was carried by haplotype 2 in all four index cases.Accurate phenotypic assessment of PDB patients' relatives allowed for diagnosing PDB in three asymptomatic relatives. There was evidence for an aggregation of Dupuytren's disease in PDB families (not associated with SQSTM1/p62 mutation), and for an association between PDB and tobacco use. Half of PDB familial forms carried a SQSTM1/p62 mutation, p62(P392L) mutation being the most frequent." @default.
• W2023377460 created "2016-06-24" @default.
• W2023377460 creator A5005235245 @default.
• W2023377460 creator A5029567719 @default.
• W2023377460 creator A5032907896 @default.
• W2023377460 creator A5036923699 @default.
• W2023377460 creator A5053105872 @default.
• W2023377460 creator A5064441744 @default.
• W2023377460 creator A5066087926 @default.
• W2023377460 creator A5080860504 @default.
• W2023377460 creator A5082113937 @default.
• W2023377460 creator A5090077269 @default.
• W2023377460 date "2012-07-01" @default.
• W2023377460 modified "2023-09-30" @default.
• W2023377460 title "Epidemiogenetic study of French families with Paget's disease of bone" @default.
• W2023377460 cites W1503343605 @default.
• W2023377460 cites W1965055436 @default.
• W2023377460 cites W1977718828 @default.
• W2023377460 cites W1978546979 @default.
• W2023377460 cites W1982955812 @default.
• W2023377460 cites W1983216602 @default.
• W2023377460 cites W1992175021 @default.
• W2023377460 cites W2002492097 @default.
• W2023377460 cites W2002902770 @default.
• W2023377460 cites W2011308707 @default.
• W2023377460 cites W2016084217 @default.
• W2023377460 cites W2016415830 @default.
• W2023377460 cites W2019364582 @default.
• W2023377460 cites W2021883084 @default.
• W2023377460 cites W2025951915 @default.
• W2023377460 cites W2026541346 @default.
• W2023377460 cites W2027514925 @default.
• W2023377460 cites W2029631894 @default.
• W2023377460 cites W2033605938 @default.
• W2023377460 cites W2059557215 @default.
• W2023377460 cites W2060303119 @default.
• W2023377460 cites W2060382991 @default.
• W2023377460 cites W2060800163 @default.
• W2023377460 cites W2060995025 @default.
• W2023377460 cites W2063250755 @default.
• W2023377460 cites W2063993421 @default.
• W2023377460 cites W2075952681 @default.
• W2023377460 cites W2091461220 @default.
• W2023377460 cites W2096849496 @default.
• W2023377460 cites W2107114877 @default.
• W2023377460 cites W2116217447 @default.
• W2023377460 cites W2123291668 @default.
• W2023377460 cites W2151334165 @default.
• W2023377460 cites W2154593412 @default.
• W2023377460 cites W2169195257 @default.
• W2023377460 cites W4236985816 @default.
• W2023377460 cites W4367720748 @default.
• W2023377460 doi "https://doi.org/10.1016/j.jbspin.2011.07.005" @default.
• W2023377460 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21962384" @default.
• W2023377460 hasPublicationYear "2012" @default.
• W2023377460 type Work @default.
• W2023377460 sameAs 2023377460 @default.
• W2023377460 citedByCount "31" @default.
• W2023377460 countsByYear W20233774602012 @default.
• W2023377460 countsByYear W20233774602013 @default.
• W2023377460 countsByYear W20233774602014 @default.
• W2023377460 countsByYear W20233774602015 @default.
• W2023377460 countsByYear W20233774602016 @default.
• W2023377460 countsByYear W20233774602017 @default.
• W2023377460 countsByYear W20233774602018 @default.
• W2023377460 countsByYear W20233774602019 @default.
• W2023377460 countsByYear W20233774602021 @default.
• W2023377460 countsByYear W20233774602022 @default.
• W2023377460 countsByYear W20233774602023 @default.
• W2023377460 crossrefType "journal-article" @default.
• W2023377460 hasAuthorship W2023377460A5005235245 @default.
• W2023377460 hasAuthorship W2023377460A5029567719 @default.
• W2023377460 hasAuthorship W2023377460A5032907896 @default.
• W2023377460 hasAuthorship W2023377460A5036923699 @default.
• W2023377460 hasAuthorship W2023377460A5053105872 @default.
• W2023377460 hasAuthorship W2023377460A5064441744 @default.
• W2023377460 hasAuthorship W2023377460A5066087926 @default.
• W2023377460 hasAuthorship W2023377460A5080860504 @default.
• W2023377460 hasAuthorship W2023377460A5082113937 @default.
• W2023377460 hasAuthorship W2023377460A5090077269 @default.
• W2023377460 hasConcept C104317684 @default.
• W2023377460 hasConcept C126322002 @default.
• W2023377460 hasConcept C135763542 @default.
• W2023377460 hasConcept C197754878 @default.
• W2023377460 hasConcept C2776154862 @default.
• W2023377460 hasConcept C2777910003 @default.
• W2023377460 hasConcept C2779134260 @default.
• W2023377460 hasConcept C36823959 @default.
• W2023377460 hasConcept C501734568 @default.
• W2023377460 hasConcept C54355233 @default.
• W2023377460 hasConcept C55493867 @default.
• W2023377460 hasConcept C65556437 @default.
• W2023377460 hasConcept C71924100 @default.
• W2023377460 hasConcept C86803240 @default.
• W2023377460 hasConcept C90924648 @default.
• W2023377460 hasConceptScore W2023377460C104317684 @default.
• W2023377460 hasConceptScore W2023377460C126322002 @default.
• W2023377460 hasConceptScore W2023377460C135763542 @default.

• next