The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease.

doi:10.1210/jc.2015-1453

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Article

The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease.

The Journal of clinical endocrinology and metabolism - 1 Jul 2015

Perez-Rivas Luis G, Theodoropoulou Marily, Ferraù Francesco, Nusser Clara, Kawaguchi Kohei, Stratakis Constantine A, Faucz Fabio Rueda, Wildemberg Luiz E, Assié Guillaume, Beschorner Rudi, Dimopoulou Christina, Buchfelder Michael, Popovic Vera, Berr Christina M, Tóth Miklós, Ardisasmita Arif Ibrahim, Honegger Jürgen, Bertherat Jerôme, Gadelha Monica R, Beuschlein Felix, Stalla Günter, Komada Masayuki, Korbonits Márta, Reincke Martin

Abstract excerpt

CONTEXT: We have recently reported somatic mutations in the ubiquitin-specific protease USP8 gene in a small series of adenomas of patients with Cushing's disease. OBJECTIVE: To determine the prevalence of USP8 mutations and the genotype-phenotype correlation in a large series of patients diagnosed with Cushing's disease. DESIGN: We performed a retrospective, multicentric, genetic analysis of 134 functioning and...

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PMID: 25942478
DOI: 10.1210/jc.2015-1453
PMCID: PMC4490309

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USP8

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