Mutations in the deubiquitinase gene USP8 cause Cushing's disease - Reincke, Martin; Sbiera, Silviu; Hayakawa, Akira; Theodoropoulou, Marily; Osswald, Andrea; Beuschlein, Felix; Meitinger, Thomas; Mizuno-Yamasaki, Emi; Kawaguchi, Kohei; Saeki, Yasushi; Tanaka, Keiji; Wieland, Thomas; et al. (Nature genetics, 2015)
Keywords: 13/109; 14-3-3 Proteins - metabolism; 14/63; 45; 45/47; 692/699/2743/2742/1738; 82/51; 82/58; 82/81; ACTH-Secreting Pituitary Adenoma - complications; ACTH-Secreting Pituitary Adenoma - genetics; ACTH-Secreting Pituitary Adenoma - metabolism; ACTH-Secreting Pituitary Adenoma - secretion; Adenoma - genetics; Adrenocorticotropic Hormone - secretion; Agriculture; Amino Acid Sequence; Animal Genetics and Genomics; Animals; Biomedicine; Cancer Research; Cercopithecus aethiops; COS Cells; Cushing syndrome; Endopeptidases - genetics; Endopeptidases - physiology; Endosomal Sorting Complexes Required for Transport - genetics; Endosomal Sorting Complexes Required for Transport - physiology; Exome - genetics; Gene Expression Regulation, Neoplastic; Gene Function; Gene mutations; Genes; Genetic aspects; Health aspects; Human Genetics; Humans; Kinases; Molecular Sequence Data; Mutation; Neoplasm Proteins - genetics; Neoplasm Proteins - physiology; Physiological aspects; Pituitary ACTH Hypersecretion - genetics; Pituitary gland; Pituitary Neoplasms - complications; Pituitary Neoplasms - genetics; Pituitary Neoplasms - metabolism; Pituitary Neoplasms - secretion; Pro-Opiomelanocortin - biosynthesis; Pro-Opiomelanocortin - genetics; Receptor, Epidermal Growth Factor - metabolism; Risk factors; Rodents; Sequence Alignment; Sequence Homology, Amino Acid; Tumors; Ubiquitin Thiolesterase - genetics; Ubiquitin Thiolesterase - physiology; Ubiquitin-proteasome system; Germany