Article
Prkar1a haploinsufficiency ameliorates the growth hormone excess phenotype in Aip-deficient mice.
Human molecular genetics - 10 Oct 2020
Schernthaner-Reiter Marie Helene, Trivellin Giampaolo, Roetzer Thomas, Hainfellner Johannes A, Starost Matthew F, Stratakis Constantine A
Abstract excerpt
Mutations of the regulatory subunit (PRKAR1A) of the cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA), leading to activation of the PKA pathway, are the genetic cause of Carney complex which is frequently accompanied by somatotroph tumors. Aryl hydrocarbon receptor-interacting protein (AIP) mutations lead to somatotroph tumorigenesis in mice and humans. The mechanisms of AIP-dependent...
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