Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD.

doi:10.1086/344579

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD.

American journal of human genetics - 1 Dec 2002

Groussin Lionel, Kirschner Lawrence S, Vincent-Dejean Caroline, Perlemoine Karine, Jullian Eric, Delemer Brigitte, Zacharieva Sabina, Pignatelli Duarte, Carney J Aidan, Luton Jean Pierre, Bertagna Xavier, Stratakis Constantine A, Bertherat Jérôme

Abstract excerpt

We studied 11 new kindreds with primary pigmented nodular adrenocortical disease (PPNAD) or Carney complex (CNC) and found that 82% of the kindreds had PRKAR1A gene defects (including seven novel inactivating mutations), most of which led to nonsense mRNA and, thus, were not expressed in patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Codon, Initiator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cyclic AMP-Dependent Protein Kinases

Share to Leukocytes

Share to Loss of Heterozygosity

Share to Multiple Endocrine Neoplasia

Share to Pancreatic Neoplasms

Share to Protein Subunits

Share to RNA Splice Sites

Source

Open in PubMed Open full text

Identifiers

PMID: 12424709
DOI: 10.1086/344579
PMCID: PMC378588

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12424709-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology: augmented PKA signaling is associated with adrenal tumorigenesis in PPNAD.PMID 12424709Read ↗

In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decaySemantic proximity Read ↗

Clinical and molecular genetics of Carney complex.Semantic proximity Read ↗

Carney Complex: Pathology and Molecular GeneticsSemantic proximity Read ↗

PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.Semantic proximity Read ↗

Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes.Semantic proximity Read ↗

Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.Semantic proximity Read ↗

Protein kinase A and its role in human neoplasia: the Carney complex paradigm.Semantic proximity Read ↗

Human tumors associated with Carney complex and germline PRKAR1A mutations: a protein kinase A disease!Semantic proximity Read ↗

Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.Semantic proximity Read ↗

PRKACB variants in skeletal disease or adrenocortical hyperplasia: effects on protein kinase ASemantic proximity Read ↗

A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.Semantic proximity Read ↗

PRKACA: the catalytic subunit of protein kinase A and adrenocortical tumorsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.