Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.

doi:10.1210/jc.2012-2275

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Article

Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.

The Journal of clinical endocrinology and metabolism - 1 Nov 2012

Vezzosi Delphine, Libé Rossella, Baudry Camille, Rizk-Rabin Marthe, Horvath Anelia, Levy Isaac, René-Corail Fernande, Ragazzon Bruno, Stratakis Constantine A, Vandecasteele Grégoire, Bertherat Jérôme

Abstract excerpt

CONTEXT: Phosphodiesterases (PDEs) are key regulatory enzymes of intracellular cAMP levels. PDE11A function has been linked to predisposition to adrenocortical tumors. OBJECTIVE: The aim of the study was to study the PDE11A gene in a large cohort of patients with ACTH-independent macronodular adrenal hyperplasia (AIMAH) and in control subjects. DESIGN: The PDE11A entire coding region was sequenced in 46 patients...

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PMID: 22996146
DOI: 10.1210/jc.2012-2275
PMCID: PMC3485605

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