| http://purl.uniprot.org/citations/24855271 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24855271 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24855271 | http://www.w3.org/2000/01/rdf-schema#comment | "Cushing's syndrome is caused by excess cortisol production from the adrenocortical gland. In corticotropin-independent Cushing's syndrome, the excess cortisol production is primarily attributed to an adrenocortical adenoma, in which the underlying molecular pathogenesis has been poorly understood. We report a hotspot mutation (L206R) in PRKACA, which encodes the catalytic subunit of cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA), in more than 50% of cases with adrenocortical adenomas associated with corticotropin-independent Cushing's syndrome. The L206R PRKACA mutant abolished its binding to the regulatory subunit of PKA (PRKAR1A) that inhibits catalytic activity of PRKACA, leading to constitutive, cAMP-independent PKA activation. These results highlight the major role of cAMP-independent activation of cAMP/PKA signaling by somatic mutations in corticotropin-independent Cushing's syndrome, providing insights into the diagnosis and therapeutics of this syndrome."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.1252328"xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.org/dc/terms/identifier | "doi:10.1126/science.1252328"xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Aoki K."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Aoki K."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Kataoka K."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Kataoka K."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Nagata Y."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Nagata Y."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Fukayama M."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Fukayama M."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Sato Y."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Sato Y."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Suzuki H."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Suzuki H."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Ogawa S."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Ogawa S."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Tanaka H."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Tanaka H."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Yoshida K."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Yoshida K."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Nureki O."xsd:string |
| http://purl.uniprot.org/citations/24855271 | http://purl.uniprot.org/core/author | "Nureki O."xsd:string |