Matches in SemOpenAlex for { <https://semopenalex.org/work/W2886769844> ?p ?o ?g. }
- W2886769844 endingPage "e137" @default.
- W2886769844 startingPage "e127" @default.
- W2886769844 abstract "Micronodular bilateral adrenal hyperplasia (MiBAH) is a rare cause of adrenal Cushing syndrome (CS). The investigations carried out on this disorder during the last two decades suggested that it could be divided into at least two entities: primary pigmented nodular adrenocortical disease (PPNAD) and isolated micronodular adrenocortical disease (i-MAD). The most common presentation of MiBAH is familial PPNAD as part of Carney complex (CNC) (cPPNAD). CNC, associated with multiple endocrine and non-endocrine neoplasias, was first described in 1985 in 40 patients, 10 of whom were familial cases. In 2000, we identified inactivating germline mutations of the PRKAR1A gene, encoding the regulatory subunit type 1α (RIα) of protein kinase A (PKA), in the majority of patients with CNC and PPNAD. PRKAR1A mutations causing CNC lead to increased PKA activity. Since then, additional genetic alterations in the cAMP/PKA signaling pathway leading to increased PKA activity have been described in association with MiBAH. This review summarizes older and recent findings on the genetics and pathophysiology of MiBAH, PPNAD, and related disorders." @default.
- W2886769844 created "2018-08-22" @default.
- W2886769844 creator A5001614340 @default.
- W2886769844 creator A5031897654 @default.
- W2886769844 creator A5079665414 @default.
- W2886769844 date "2018-07-01" @default.
- W2886769844 modified "2023-09-30" @default.
- W2886769844 title "Genetics of micronodular adrenal hyperplasia and Carney complex" @default.
- W2886769844 cites W1835540925 @default.
- W2886769844 cites W1969322965 @default.
- W2886769844 cites W1980666946 @default.
- W2886769844 cites W1981884865 @default.
- W2886769844 cites W1985709375 @default.
- W2886769844 cites W1990995386 @default.
- W2886769844 cites W1991275732 @default.
- W2886769844 cites W2001883919 @default.
- W2886769844 cites W2006583147 @default.
- W2886769844 cites W2007701411 @default.
- W2886769844 cites W2008227227 @default.
- W2886769844 cites W2009917029 @default.
- W2886769844 cites W2010157971 @default.
- W2886769844 cites W2010677001 @default.
- W2886769844 cites W2014418048 @default.
- W2886769844 cites W2024553843 @default.
- W2886769844 cites W2040816499 @default.
- W2886769844 cites W2046611363 @default.
- W2886769844 cites W2047597784 @default.
- W2886769844 cites W2047694722 @default.
- W2886769844 cites W2048090654 @default.
- W2886769844 cites W2049174491 @default.
- W2886769844 cites W2054141528 @default.
- W2886769844 cites W2064136900 @default.
- W2886769844 cites W2064533401 @default.
- W2886769844 cites W2067621615 @default.
- W2886769844 cites W2073271133 @default.
- W2886769844 cites W2078461728 @default.
- W2886769844 cites W2086823978 @default.
- W2886769844 cites W2087385258 @default.
- W2886769844 cites W2089127970 @default.
- W2886769844 cites W2093790639 @default.
- W2886769844 cites W2094923832 @default.
- W2886769844 cites W2095669888 @default.
- W2886769844 cites W2095849867 @default.
- W2886769844 cites W2096271770 @default.
- W2886769844 cites W2099070047 @default.
- W2886769844 cites W2116425613 @default.
- W2886769844 cites W2117535295 @default.
- W2886769844 cites W2118545928 @default.
- W2886769844 cites W2118784254 @default.
- W2886769844 cites W2121714580 @default.
- W2886769844 cites W2123842236 @default.
- W2886769844 cites W2124127909 @default.
- W2886769844 cites W2132376565 @default.
- W2886769844 cites W2132424280 @default.
- W2886769844 cites W2133043734 @default.
- W2886769844 cites W2141010596 @default.
- W2886769844 cites W2143539804 @default.
- W2886769844 cites W2147323486 @default.
- W2886769844 cites W2148602950 @default.
- W2886769844 cites W2153495469 @default.
- W2886769844 cites W2153983921 @default.
- W2886769844 cites W2160467994 @default.
- W2886769844 cites W2161037275 @default.
- W2886769844 cites W2162124694 @default.
- W2886769844 cites W2166889326 @default.
- W2886769844 cites W2170487994 @default.
- W2886769844 cites W2171966399 @default.
- W2886769844 cites W2337904583 @default.
- W2886769844 cites W2469640494 @default.
- W2886769844 cites W2515089624 @default.
- W2886769844 cites W2521132816 @default.
- W2886769844 doi "https://doi.org/10.1016/j.lpm.2018.07.005" @default.
- W2886769844 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30093212" @default.
- W2886769844 hasPublicationYear "2018" @default.
- W2886769844 type Work @default.
- W2886769844 sameAs 2886769844 @default.
- W2886769844 citedByCount "15" @default.
- W2886769844 countsByYear W28867698442019 @default.
- W2886769844 countsByYear W28867698442020 @default.
- W2886769844 countsByYear W28867698442021 @default.
- W2886769844 countsByYear W28867698442022 @default.
- W2886769844 crossrefType "journal-article" @default.
- W2886769844 hasAuthorship W2886769844A5001614340 @default.
- W2886769844 hasAuthorship W2886769844A5031897654 @default.
- W2886769844 hasAuthorship W2886769844A5079665414 @default.
- W2886769844 hasConcept C10162356 @default.
- W2886769844 hasConcept C104317684 @default.
- W2886769844 hasConcept C109825262 @default.
- W2886769844 hasConcept C126322002 @default.
- W2886769844 hasConcept C134018914 @default.
- W2886769844 hasConcept C2777108446 @default.
- W2886769844 hasConcept C2777562237 @default.
- W2886769844 hasConcept C2780103800 @default.
- W2886769844 hasConcept C46699223 @default.
- W2886769844 hasConcept C54355233 @default.
- W2886769844 hasConcept C71315377 @default.
- W2886769844 hasConcept C71924100 @default.
- W2886769844 hasConcept C86803240 @default.