Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease

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 associate...

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Detalhes bibliográficos
Publicado no:Endocr Relat Cancer
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5510591/
https://ncbi.nlm.nih.gov/pubmed/28533356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/ERC-17-0131
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