| http://purl.uniprot.org/citations/27426734 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27426734 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27426734 | http://www.w3.org/2000/01/rdf-schema#comment | "Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. Whole-exome sequencing identified heterozygous MAP3K7 mutations in six distinct CSCF-affected individuals from four families and ranging in age from 5 to 37 years. MAP3K7 encodes transforming growth factor β (TGF-β)-activated kinase 1 (TAK1), which is involved in the mitogen-activated protein kinase (MAPK)-p38 signaling pathway. MAPK-p38 signaling was markedly altered when expression of non-canonical TGF-β-driven target genes was impaired. These findings support the loss of transcriptional control of the TGF-β-MAPK-p38 pathway in fibroblasts obtained from affected individuals. Surprisingly, although TAK1 is located at the crossroad of inflammation, immunity, and cancer, this study reports MAP3K7 mutations in a developmental disorder affecting mainly cartilage, bone, and heart."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2016.06.005"xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2016.06.005"xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Cormier-Daire V."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Cormier-Daire V."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Alibeu O."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Alibeu O."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Picard C."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Picard C."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Bonnet D."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Bonnet D."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Le Goff C."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Le Goff C."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Chrabieh M."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Chrabieh M."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Rogers C."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Rogers C."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Pinto G."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Pinto G."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Le Goff W."xsd:string |
| http://purl.uniprot.org/citations/27426734 | http://purl.uniprot.org/core/author | "Le Goff W."xsd:string |