Condition: Carney Complex, Type 1


rs137853303 in PRKAR1A gene and Carney Complex, Type 1 PMID 18241045 2008 In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay.

PMID 15371594 2004 Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice.

PMID 22785148 2012 An unusual presentation of Carney complex with diffuse primary pigmented nodular adrenocortical disease on one adrenal gland and a nonpigmented adrenocortical adenoma and focal primary pigmented nodular adrenocortical disease on the other.

PMID 26405036 2015 Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 23323113 2012 Novel Mutation in PRKAR1A in Carney Complex.

PMID 11115848 2000 Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.

PMID 19293268 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.

PMID 20358582 2010 Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

PMID 18056771 2008 An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits.

PMID 22259056 2012 Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.

PMID 22341669 2012 Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented.

rs1568702458 in PRKAR1A;FAM20A gene and Carney Complex, Type 1 PMID 11115848 2000 Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex.

PMID 19293268 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.