Article
Decoding the genetic basis of Cushing's disease: USP8 in the spotlight.
European journal of endocrinology - 1 Oct 2015
Theodoropoulou Marily, Reincke Martin, Fassnacht Martin, Komada Masayuki
Abstract excerpt
Cushing's disease (CD) arises from pituitary-dependent glucocorticoid excess due to an ACTH-secreting corticotroph tumor. Genetic hits in oncogenes and tumor suppressor genes that afflict other pituitary tumor subtypes are not found in corticotrophinomas. Recently, a somatic mutational hotspot was found in up to half of corticotrophinomas in the USP8 gene that encodes a protein that impairs the downregulation of...
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