Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Super-enhancer hijacking drives ectopic expression of hedgehog pathway ligands in meningiomas.
Youngblood MW et al.
Nature Communications, 2023
CCNB2 and AURKA overexpression may cause atypical mitosis in Japanese cortisol-producing adrenocortical carcinoma with TP53 somatic variant.
Ikeya A et al.
Plos One, 2020
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
Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics.
Salpea P et al.
Molecular and Cellular Endocrinology, 2014
PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance.
Nagasaki K 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
Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas.
Perdigão PF et al.
Genes, Chromosomes & Cancer, 2005
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