| http://purl.uniprot.org/citations/23602711 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23602711 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23602711 | http://www.w3.org/2000/01/rdf-schema#comment | "The genetic cause of GAPO syndrome, a condition characterized by growth retardation, alopecia, pseudoanodontia, and progressive visual impairment, has not previously been identified. We studied four ethnically unrelated affected individuals and identified homozygous nonsense mutations (c.262C>T [p.Arg88*] and c.505C>T [p.Arg169*]) or splicing mutations (c.1435-12A>G [p.Gly479Phefs*119]) in ANTXR1, which encodes anthrax toxin receptor 1. The nonsense mutations predictably trigger nonsense-mediated mRNA decay, resulting in the loss of ANTXR1. The transcript with the splicing mutation theoretically encodes a truncated ANTXR1 containing a neopeptide composed of 118 unique amino acids in its C terminus. GAPO syndrome's major phenotypic features, which include dental abnormalities and the accumulation of extracellular matrix, recapitulate those found in Antxr1-mutant mice and point toward an underlying defect in extracellular-matrix regulation. Thus, we propose that mutations affecting ANTXR1 function are responsible for this disease's characteristic generalized defect in extracellular-matrix homeostasis."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.03.023"xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2013.03.023"xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Brunner H.G."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Hoischen A."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Hoischen A."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Baresova V."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Baresova V."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Hartmannova H."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Hartmannova H."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Hodanova K."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Hodanova K."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Hulkova H."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Hulkova H."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Zaki M.S."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Zaki M.S."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Kmoch S."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Kmoch S."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Sovova J."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Sovova J."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Stranecky V."xsd:string |
| http://purl.uniprot.org/citations/23602711 | http://purl.uniprot.org/core/author | "Stranecky V."xsd:string |