Article
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population.
Cancer research - 15 Dec 2006
Horvath Anelia, Giatzakis Christoforos, Robinson-White Audrey, Boikos Sosipatros, Levine Elizabeth, Griffin Kurt, Stein Erica, Kamvissi Virginia, Soni Payal, Bossis Ioannis, de Herder Wouter, Carney J Aidan, Bertherat Jérôme, Gregersen Peter K, Remmers Elaine F, Stratakis Constantine A
Abstract excerpt
Several types of adrenocortical tumors that lead to Cushing syndrome may be caused by aberrant cyclic AMP (cAMP) signaling. We recently identified patients with micronodular adrenocortical hyperplasia who were carriers of inactivating mutations in the 2q-located phosphodiesterase 11A (PDE11A) gene. We now studied the frequency of two missense substitutions, R804H and R867G, in conserved regions of the enzyme in...
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