Article
Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.
Endocrine-related cancer - 1 Aug 2017
Hernández-Ramírez Laura C, Gam Ryhem, Valdés Nuria, Lodish Maya B, Pankratz Nathan, Balsalobre Aurelio, Gauthier Yves, Faucz Fabio R, Trivellin Giampaolo, Chittiboina Prashant, Lane John, Kay Denise M, Dimopoulos Aggeliki, Gaillard Stephan, Neou Mario, Bertherat Jérôme, Assié Guillaume, Villa Chiara, Mills James L, Drouin Jacques, Stratakis Constantine A
Abstract excerpt
The CABLES1 cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of CABLES1 mutations/copy number variations (CNVs) and their associated clinical, histopathological and molecular features in patients with Cushing's disease (CD). Samples from 146...
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