| http://purl.uniprot.org/citations/11479597 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11479597 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/11479597 | http://www.w3.org/2000/01/rdf-schema#comment | "Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia, primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. Mutations in the genes encoding cartilage oligomeric matrix protein (COMP) and type IX collagen (COL9A2 and COL9A3) have previously been shown to cause different forms of MED (refs. 4-13). These dominant forms of MED (EDM1-3) are caused by mutations in the genes encoding structural proteins of the cartilage extracellular matrix (ECM); these proteins interact with high affinity in vitro. A recessive form of MED (EDM4) has also been reported; it is caused by a mutation in the diastrophic dysplasia sulfate transporter gene (SLC26A). A genomewide screen of family with autosomal-dominant MED not linked to the EDM1-3 genes provides significant genetic evidence for a MED locus on the short arm of chromosome 2 (2p24-p23), and a search for candidate genes identified MATN3 (ref. 18), encoding matrilin-3, within the critical region. Matrilin-3 is an oligomeric protein that is present in the cartilage ECM. We have identified two different missense mutations in the exon encoding the von Willebrand factor A (vWFA) domain of matrilin-3 in two unrelated families with MED (EDM5). These are the first mutations to be identified in any of the genes encoding the matrilin family of proteins and confirm a role for matrilin-3 in the development and homeostasis of cartilage and bone."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng573"xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng573"xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Mortier G.R."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Mortier G.R."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Loughlin J."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Loughlin J."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Chapman K."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Chapman K."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Grant M.E."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Grant M.E."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Briggs M.D."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Briggs M.D."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Chapman K.L."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/author | "Chapman K.L."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/date | "2001"xsd:gYear |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/pages | "393-396"xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/pages | "393-396"xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/title | "Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia."xsd:string |
| http://purl.uniprot.org/citations/11479597 | http://purl.uniprot.org/core/title | "Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia."xsd:string |