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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書誌詳細
出版年:Endocr Relat Cancer
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: Bioscientifica Ltd 2017
主題:
Research
オンライン･アクセス: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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