| http://purl.uniprot.org/citations/21651393 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21651393 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21651393 | http://www.w3.org/2000/01/rdf-schema#comment | "The skeletal dysplasia characteristic of acrodysostosis resembles the Albright's hereditary osteodystrophy seen in patients with pseudohypoparathyroidism type 1a, but defects in the α-stimulatory subunit of the G-protein (GNAS), the cause of pseudohypoparathyroidism type 1a, are not present in patients with acrodysostosis. We report a germ-line mutation in the gene encoding PRKAR1A, the cyclic AMP (cAMP)-dependent regulatory subunit of protein kinase A, in three unrelated patients with acrodysostosis and resistance to multiple hormones. The mutated subunit impairs the protein kinase A response to stimulation by cAMP; this explains our patients' hormone resistance and the similarities of their skeletal abnormalities with those observed in patients with pseudohypoparathyroidism type 1a."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.org/dc/terms/identifier | "doi:10.1056/nejmoa1012717"xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.org/dc/terms/identifier | "doi:10.1056/nejmoa1012717"xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Clauser E."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Clauser E."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Linglart A."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Linglart A."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Bougneres P."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Bougneres P."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Pinto G."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Pinto G."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Chanson P."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Chanson P."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Gunes Y."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Gunes Y."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Auzan C."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Auzan C."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Cancel M."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Cancel M."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Couvineau A."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Couvineau A."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Menguy C."xsd:string |
| http://purl.uniprot.org/citations/21651393 | http://purl.uniprot.org/core/author | "Menguy C."xsd:string |