Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.

doi:10.1210/jc.2010-1704

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

Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.

The Journal of clinical endocrinology and metabolism - 1 Jan 2011

Libé Rossella, Horvath Anelia, Vezzosi Delphine, Fratticci Amato, Coste Joel, Perlemoine Karine, Ragazzon Bruno, Guillaud-Bataille Marine, Groussin Lionel, Clauser Eric, Raffin-Sanson Marie-Laure, Siegel Jennifer, Moran Jason, Drori-Herishanu Limor, Faucz Fabio Rueda, Lodish Maya, Nesterova Maria, Bertagna Xavier, Bertherat Jerome, Stratakis Constantine A

Abstract excerpt

BACKGROUND: Carney complex (CNC) is an autosomal dominant multiple neoplasia, caused mostly by inactivating mutations of the regulatory subunit 1A of the protein kinase A (PRKAR1A). Primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine manifestation of CNC with a great inter-individual variability. Germline, protein-truncating mutations of phosphodiesterase type 11A (PDE11A) have...

Read the complete abstract on PubMed

Topics

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

Share to 3',5'-Cyclic-GMP Phosphodiesterases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adrenal Gland Neoplasms

Share to Carney Complex

Share to Cyclic AMP-Dependent Protein Kinase RIalpha Subunit

Share to HEK293 Cells

Share to Phosphoric Diester Hydrolases

Share to RNA, Small Interfering

Share to Testicular Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 21047926
DOI: 10.1210/jc.2010-1704
PMCID: PMC3038483

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.PMID 21047926Read ↗

MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.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 ↗

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

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

Adrenal Pathophysiology: Lessons from the Carney ComplexSemantic proximity Read ↗

PRKAR1A mutations in primary pigmented nodular adrenocortical disease.Semantic proximity Read ↗

MEN1, MEN4, and Carney Complex: Pathology and Molecular GeneticsSemantic proximity Read ↗

Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions.Semantic proximity Read ↗

Carney Complex: Pathology and Molecular GeneticsSemantic proximity Read ↗

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

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.Semantic proximity Read ↗

Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the PRKAR1A gene.Semantic proximity Read ↗

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