Article
Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.
Clinical endocrinology - 1 Aug 2012
Rothenbuhler Anya, Horvath Anelia, Libé Rossella, Faucz Fabio R, Fratticci Amato, Raffin Sanson Marie L, Vezzosi Delphine, Azevedo Monalisa, Levy Isaak, Almeida Madson Q, Lodish Maya, Nesterova Maria, Bertherat Jérôme, Stratakis Constantine A
Abstract excerpt
BACKGROUND: Genetic aberrations in various components of cAMP signalling pathway predispose to endocrine tumours. Mutations in the phosphodiesterases (PDEs) are involved in the predisposition to adrenocortical neoplastic conditions. OBJECTIVE: To screen for genetic variations in PDE8B among patie...
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