| http://purl.uniprot.org/citations/8589725 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8589725 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8589725 | http://www.w3.org/2000/01/rdf-schema#comment | "The TGF-beta superfamily comprises a number of functionally diverse growth factors/signalling molecules (1) which elicit their response upon binding to serine-threonine kinase receptors (2). We recently reported the isolation and characterization of two new members of the family, designated cartilage-derived morphogenetic protein (CDMP) 1 and 2 (ref. 3) which are closely related to the sub-family of bone morphogenetic proteins. CDMP-1 is predominantly expressed at sites of skeletal morphogenesis (3), and we now show that a mutation in hCDMP-1 is associated with a recessive human chondrodysplasia (acromesomelic chondrodysplasia, Hunter-Thompson type (4,5)). The disorder, characterized by skeletal abnormalities restricted to the limbs andlimb joints, is phenotypically similar to murine brachypodism (bp) which is due to mutations in growth/differentiation factor-5 (Gdf-5) (6), the mouse homologue of hCDMP-1. Affected individuals are homozygous for a 22-bp (tandem-duplication) frameshift mutation in the mature region of CDMP-1. The resulting phenotype provides direct evidence for the involvement of CDMP-1 in human skeletal development and represents the first human disorder attributable to a mutation in a TGF-beta superfamily member."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0396-315"xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0396-315"xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Lin K."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Lin K."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Luyten F.P."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Luyten F.P."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Thomas J.T."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Thomas J.T."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Camargo M."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Camargo M."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Cervenka J."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Cervenka J."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Nandedkar M."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/author | "Nandedkar M."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/date | "1996"xsd:gYear |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/name | "Nat. Genet."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/pages | "315-317"xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/pages | "315-317"xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/title | "A human chondrodysplasia due to a mutation in a TGF-beta superfamily member."xsd:string |
| http://purl.uniprot.org/citations/8589725 | http://purl.uniprot.org/core/title | "A human chondrodysplasia due to a mutation in a TGF-beta superfamily member."xsd:string |