| http://purl.uniprot.org/citations/21280149 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21280149 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21280149 | http://www.w3.org/2000/01/rdf-schema#comment | "Dyggve-Melchior-Clausen syndrome (DMC), a severe autosomal recessive skeletal disorder with mental retardation, is caused by mutation of the gene encoding Dymeclin (DYM). Employing patient fibroblasts with mutations characterized at the genomic and, for the first time, transcript level, we identified profound disruption of Golgi organization as a pathogenic feature, resolved by transfection of heterologous wild-type Dymeclin. Collagen targeting appeared defective in DMC cells leading to near complete absence of cell surface collagen fibers. DMC cells have an elevated apoptotic index (P< 0.01) likely due to a stress response contingent upon Golgi-related trafficking defects. We performed spatiotemporal mapping of Dymeclin expression in zebrafish embryos and identified high levels of transcript in brain and cartilage during early development. Finally, in a chondrocyte cDNA library, we identified two novel secretion pathway proteins as Dymeclin interacting partners: GOLM1 and PPIB. Together these data identify the role of Dymeclin in secretory pathways essential to endochondral bone formation during early development."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.21413"xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.21413"xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Trembath R.C."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Trembath R.C."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Machado R.D."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Machado R.D."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Southgate L."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Southgate L."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Dafou D."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Dafou D."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Denais C."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Denais C."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Dent C.L."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Dent C.L."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Hoyle J."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/author | "Hoyle J."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/pages | "231-239"xsd:string |
| http://purl.uniprot.org/citations/21280149 | http://purl.uniprot.org/core/pages | "231-239"xsd:string |