Associated Papers
The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.
Sun J et al.
Frontiers in Endocrinology, 2024
Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma.
Wan W et al.
Frontiers in Genetics, 2022
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.
Rhayem Y et al.
The Journal of Biological Chemistry, 2015
The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.
Li N et al.
International Journal of Molecular Sciences, 2014
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.
Anselmo J et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
How does cAMP/protein kinase A signaling lead to tumors in the adrenal cortex and other tissues?
Almeida MQ et al.
Molecular and Cellular Endocrinology, 2011
Carney complex and other conditions associated with micronodular adrenal hyperplasias.
Almeida MQ et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2010
Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.
Horvath A et al.
Human Mutation, 2010
Carney complex and lentiginosis.
Horvath A et al.
Pigment Cell & Melanoma Research, 2009
Unraveling the molecular basis of micronodular adrenal hyperplasia.
Horvath A et al.
Current Opinion in Endocrinology, Diabetes, and Obesity, 2008
In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.
Greene EL et al.
Human Mutation, 2008
The transcriptome that mediates increased cyclic adenosine monophosphate signaling in PRKAR1A defects and other settings.
Azevedo MF et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 0