Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
Harvey Cushing Treated the First Known Patient With Carney Complex.
Tsay CJ et al.
Journal of the Endocrine Society, 2017
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
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
Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.
Bertherat J et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Edgetic perturbation models of human inherited disorders.
Zhong Q et al.
Molecular Systems Biology, 2009
Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A.
Sasaki A et al.
Molecular Genetics and Metabolism, 2008
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
Inherited disposition to cardiac myxoma development.
Wilkes D et al.
Nature Reviews. Cancer, 2006
Clinical phenotypes and molecular genetic mechanisms of Carney complex.
Wilkes D et al.
The Lancet. Oncology, 2005
Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.
Veugelers M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2004