Recent advances in understanding Cushing disease: resistance to glucocorticoid negative feedback and somatic USP8 mutations

F1000Research
Eleni Daniel, John Newell-Price

Abstract

Cushing's disease is a rare disease with a characteristic phenotype due to significant hypercortisolism driven by over-secretion of adrenocorticotropic hormone and to high morbidity and mortality if untreated. It is caused by a corticotroph adenoma of the pituitary, but the exact mechanisms leading to tumorigenesis are not clear. Recent advances in molecular biology such as the discovery of somatic mutations of the ubiquitin-specific peptidase 8 ( USP8) gene allow new insights into the pathogenesis, which could be translated into exciting and much-needed therapeutic applications.

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Nov 16, 2019·Journal of Clinical Medicine·Hiroshi Nishioka, Shozo Yamada
May 17, 2018·Frontiers in Endocrinology·Fabienne LangloisMaria Fleseriu

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