Pituitary · 2022 · 18 citations · 32 references
MedicineMolecular BiologyMolecular GeneticsGene ExpressionMedical GeneticsAdrenal Disorder GeneticsDisease MechanismsPituitary Disorder GeneticsAdrenal PathophysiologyCushing Disease GeneticsCushing Syndrome PathophysiologyCushing Syndrome PharmacotherapyPromoter Activity AnalysisPromoter Activity Assays
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Mutations in the deubiquitinase gene USP8 cause Cushing's disease
Martín Reincke, Silviu Sbiera, Akira Hayakawa et al. · Nature Genetics · 2014 · 591 citations
Recurrent gain-of-function USP8 mutations in Cushing's disease
Zengyi Ma, Zhijian Song, Jianhua Chen et al. · Cell Research · 2015 · 360 citations · Full text
Medicine, Endocrinology, Genetics +17
Luis Gustavo Perez‐Rivas, Marily Theodoropoulou, Francesco Ferraù et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 220 citations · Full text
Medicine, Endocrinology, Genetics +17