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

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’ c...

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Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC378588/
https://ncbi.nlm.nih.gov/pubmed/12424709
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