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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2017
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510591/
https://www.ncbi.nlm.nih.gov/pubmed/28533356
http://dx.doi.org/10.1530/ERC-17-0131

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