Matches in SemOpenAlex for { <https://semopenalex.org/work/W2031027318> ?p ?o ?g. }
- W2031027318 endingPage "1459" @default.
- W2031027318 startingPage "1448" @default.
- W2031027318 abstract "Osteoarthritis (OA) is the most common human joint disease, characterized by loss and/or remodeling of joint synovium, cartilage, and bone. Here, we describe a genomewide linkage analysis of patients with idiopathic hand OA who were carefully phenotyped for involvement of either or both the distal interphalangeal (DIP) joints and the first carpometacarpal (CMC1) joints. The best linkage peaks were on chromosomes 4q and 3p and on the short arm of chromosome 2. Genomewide significance was reached for a locus on chromosome 2 for patients with affected CMC1 joints (LOD = 4.97); this locus was also significant for patients with OA in both CMC1 and DIP joints (LOD = 4.44). The peak LOD score at this locus coincides with a gene, MATN3, encoding the noncollagenous cartilage extracellular matrix protein, matrilin-3. Subsequent screening of the genomic sequence revealed a missense mutation, of a conserved amino acid codon, changing threonine to methionine in the epidermal growth factor-like domain in matrilin-3. The missense mutation cosegregates with hand OA in several families. The mutation frequency is slightly more than 2% in patients with hand OA in the Icelandic population and has a relative risk of 2.1." @default.
- W2031027318 created "2016-06-24" @default.
- W2031027318 creator A5003777704 @default.
- W2031027318 creator A5007340998 @default.
- W2031027318 creator A5013497996 @default.
- W2031027318 creator A5018095378 @default.
- W2031027318 creator A5018239255 @default.
- W2031027318 creator A5045230617 @default.
- W2031027318 creator A5046786458 @default.
- W2031027318 creator A5051791381 @default.
- W2031027318 creator A5061424172 @default.
- W2031027318 creator A5061474892 @default.
- W2031027318 creator A5083470330 @default.
- W2031027318 creator A5084914057 @default.
- W2031027318 creator A5086860848 @default.
- W2031027318 date "2003-06-01" @default.
- W2031027318 modified "2023-10-01" @default.
- W2031027318 title "Genomewide Scan for Hand Osteoarthritis: A Novel Mutation in Matrilin-3" @default.
- W2031027318 cites W137432295 @default.
- W2031027318 cites W1557101715 @default.
- W2031027318 cites W1595542501 @default.
- W2031027318 cites W1969663365 @default.
- W2031027318 cites W1974784909 @default.
- W2031027318 cites W1976741643 @default.
- W2031027318 cites W1980961551 @default.
- W2031027318 cites W1985935486 @default.
- W2031027318 cites W2003479985 @default.
- W2031027318 cites W2010378227 @default.
- W2031027318 cites W2011487877 @default.
- W2031027318 cites W2015974700 @default.
- W2031027318 cites W2019899592 @default.
- W2031027318 cites W2020237866 @default.
- W2031027318 cites W2020456020 @default.
- W2031027318 cites W2028975314 @default.
- W2031027318 cites W2030148262 @default.
- W2031027318 cites W2043111550 @default.
- W2031027318 cites W2045127644 @default.
- W2031027318 cites W2048034418 @default.
- W2031027318 cites W2049178651 @default.
- W2031027318 cites W2052991119 @default.
- W2031027318 cites W2055841694 @default.
- W2031027318 cites W2061607082 @default.
- W2031027318 cites W2080738138 @default.
- W2031027318 cites W2104743461 @default.
- W2031027318 cites W2105392835 @default.
- W2031027318 cites W2107305644 @default.
- W2031027318 cites W2107871825 @default.
- W2031027318 cites W2108421907 @default.
- W2031027318 cites W2121336305 @default.
- W2031027318 cites W2121982183 @default.
- W2031027318 cites W2127814324 @default.
- W2031027318 cites W2160437131 @default.
- W2031027318 cites W2169867126 @default.
- W2031027318 cites W2316135252 @default.
- W2031027318 cites W2428824070 @default.
- W2031027318 cites W4241343866 @default.
- W2031027318 cites W4253730034 @default.
- W2031027318 cites W4300942465 @default.
- W2031027318 cites W89260215 @default.
- W2031027318 doi "https://doi.org/10.1086/375556" @default.
- W2031027318 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1180305" @default.
- W2031027318 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12736871" @default.
- W2031027318 hasPublicationYear "2003" @default.
- W2031027318 type Work @default.
- W2031027318 sameAs 2031027318 @default.
- W2031027318 citedByCount "165" @default.
- W2031027318 countsByYear W20310273182012 @default.
- W2031027318 countsByYear W20310273182013 @default.
- W2031027318 countsByYear W20310273182014 @default.
- W2031027318 countsByYear W20310273182015 @default.
- W2031027318 countsByYear W20310273182016 @default.
- W2031027318 countsByYear W20310273182017 @default.
- W2031027318 countsByYear W20310273182018 @default.
- W2031027318 countsByYear W20310273182019 @default.
- W2031027318 countsByYear W20310273182020 @default.
- W2031027318 countsByYear W20310273182021 @default.
- W2031027318 countsByYear W20310273182022 @default.
- W2031027318 countsByYear W20310273182023 @default.
- W2031027318 crossrefType "journal-article" @default.
- W2031027318 hasAuthorship W2031027318A5003777704 @default.
- W2031027318 hasAuthorship W2031027318A5007340998 @default.
- W2031027318 hasAuthorship W2031027318A5013497996 @default.
- W2031027318 hasAuthorship W2031027318A5018095378 @default.
- W2031027318 hasAuthorship W2031027318A5018239255 @default.
- W2031027318 hasAuthorship W2031027318A5045230617 @default.
- W2031027318 hasAuthorship W2031027318A5046786458 @default.
- W2031027318 hasAuthorship W2031027318A5051791381 @default.
- W2031027318 hasAuthorship W2031027318A5061424172 @default.
- W2031027318 hasAuthorship W2031027318A5061474892 @default.
- W2031027318 hasAuthorship W2031027318A5083470330 @default.
- W2031027318 hasAuthorship W2031027318A5084914057 @default.
- W2031027318 hasAuthorship W2031027318A5086860848 @default.
- W2031027318 hasBestOaLocation W20310273181 @default.
- W2031027318 hasConcept C104317684 @default.
- W2031027318 hasConcept C2908647359 @default.
- W2031027318 hasConcept C501734568 @default.
- W2031027318 hasConcept C54355233 @default.
- W2031027318 hasConcept C71924100 @default.