A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.

doi:10.1038/ng1809

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Article

A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.

Nature genetics - 1 Jul 2006

Horvath Anelia, Boikos Sosipatros, Giatzakis Christoforos, Robinson-White Audrey, Groussin Lionel, Griffin Kurt J, Stein Erica, Levine Elizabeth, Delimpasi Georgia, Hsiao Hui Pin, Keil Meg, Heyerdahl Sarah, Matyakhina Ludmila, Libè Rossella, Fratticci Amato, Kirschner Lawrence S, Cramer Kevin, Gaillard Rolf C, Bertagna Xavier, Carney J Aidan, Bertherat Jérôme, Bossis Ioannis, Stratakis Constantine A

Abstract excerpt

Phosphodiesterases (PDEs) regulate cyclic nucleotide levels. Increased cyclic AMP (cAMP) signaling has been associated with PRKAR1A or GNAS mutations and leads to adrenocortical tumors and Cushing syndrome. We investigated the genetic source of Cushing syndrome in individuals with adrenocortical hyperplasia that was not caused by known defects. We performed genome-wide SNP genotyping, including the adrenocortical...

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PMID: 16767104
DOI: 10.1038/ng1809

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GNAS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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