A genetic and molecular update on adrenocortical causes of Cushing syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
http://www.nature.com/articles/nrendo.2016.24.pdf
Reference64 articles.
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2. Groussin, L. et al. 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. Am. J. Hum. Genet. 71, 1433–1442 (2002).
3. Horvath, A. et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nat. Genet. 38, 794–800 (2006).
4. Horvath, A., Mericq, V. & Stratakis, C. A. Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. N. Engl. J. Med. 358, 750–752 (2008).
5. Beuschlein, F. et al. Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. N. Engl. J. Med. 370, 1019–1028 (2014).
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