Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

doi:10.1056/NEJMoa1310359

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Article

Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.

The New England journal of medicine - 13 Mar 2014

Beuschlein Felix, Fassnacht Martin, Assié Guillaume, Calebiro Davide, Stratakis Constantine A, Osswald Andrea, Ronchi Cristina L, Wieland Thomas, Sbiera Silviu, Faucz Fabio R, Schaak Katrin, Schmittfull Anett, Schwarzmayr Thomas, Barreau Olivia, Vezzosi Delphine, Rizk-Rabin Marthe, Zabel Ulrike, Szarek Eva, Salpea Paraskevi, Forlino Antonella, Vetro Annalisa, Zuffardi Orsetta, Kisker Caroline, Diener Susanne, Meitinger Thomas, Lohse Martin J, Reincke Martin, Bertherat Jérome, Strom Tim M, Allolio Bruno

Abstract excerpt

BACKGROUND: Corticotropin-independent Cushing's syndrome is caused by tumors or hyperplasia of the adrenal cortex. The molecular pathogenesis of cortisol-producing adrenal adenomas is not well understood. METHODS: We performed exome sequencing of tumor-tissue specimens from 10 patients with cortisol-producing adrenal adenomas and evaluated recurrent mutations in candidate genes in an additional 171 patients with...

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Identifiers

PMID: 24571724
DOI: 10.1056/NEJMoa1310359
PMCID: PMC4727447

Genes

PRKACA

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