Article
Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma.
Cold Spring Harbor molecular case studies - 1 May 2017
Uzilov Andrew V, Cheesman Khadeen C, Fink Marc Y, Newman Leah C, Pandya Chetanya, Lalazar Yelena, Hefti Marco, Fowkes Mary, Deikus Gintaras, Lau Chun Yee, Moe Aye S, Kinoshita Yayoi, Kasai Yumi, Zweig Micol, Gupta Arpeta, Starcevic Daniela, Mahajan Milind, Schadt Eric E, Post Kalmon D, Donovan Michael J, Sebra Robert, Chen Rong, Geer Eliza B
Abstract excerpt
Cushing's disease (CD) is caused by pituitary corticotroph adenomas that secrete excess adrenocorticotropic hormone (ACTH). In these tumors, somatic mutations in the gene USP8 have been identified as recurrent and pathogenic and are the sole known molecular driver for CD. Although other somatic mutations were reported in these studies, their contribution to the pathogenesis of CD remains unexplored. No molecular...
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