Identification of recurrent USP48 and BRAF mutations in Cushing’s disease

Cushing’s disease results from corticotroph adenomas of the pituitary that hypersecrete adrenocorticotropin (ACTH), leading to excess glucocorticoid and hypercortisolism. Mutations of the deubiquitinase gene USP8 occur in 35–62% of corticotroph adenomas. However, the major driver mutations in USP8 w...

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Vydáno v:	Nature communications Ročník 9; číslo 1; s. 3171 - 9
Hlavní autoři:	Chen, Jianhua, Jian, Xuemin, Deng, Siyu, Ma, Zengyi, Shou, Xuefei, Shen, Yue, Zhang, Qilin, Song, Zhijian, Li, Zhiqiang, Peng, Hong, Peng, Cheng, Chen, Min, Luo, Cheng, Zhao, Dan, Ye, Zhao, Shen, Ming, Zhang, Yichao, Zhou, Juan, Fahira, Aamir, Wang, Yongfei, Li, Shiqi, Zhang, Zhaoyun, Ye, Hongying, Li, Yiming, Shen, Jiawei, Chen, Hong, Tang, Feng, Yao, Zhenwei, Shi, Zhifeng, Chen, Chunjui, Xie, Lu, Wang, Ye, Fu, Chaowei, Mao, Ying, Zhou, Liangfu, Gao, Daming, Yan, Hai, Zhao, Yao, Huang, Chuanxin, Shi, Yongyong
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London Nature Publishing Group UK 09.08.2018 Nature Publishing Group Nature Portfolio
Témata:	45 45/23 631/208/69 692/163/2743/1459/1740 Adenoma Adenoma - genetics Adrenocorticotropic hormone Adrenocorticotropin (ACTH) Adult Binding Sites CpG Islands Cushing syndrome Cushing's disease DNA Mutational Analysis Female Glucocorticoids Humanities and Social Sciences Humans Male Middle Aged Molecular modelling multidisciplinary Mutants Mutation Nervous system diseases Pathogenesis Phenotype Pituitary Pituitary ACTH Hypersecretion - genetics Pro-Opiomelanocortin - genetics Proopiomelanocortin Proto-Oncogene Proteins B-raf - genetics Science Sequence Analysis, DNA Therapeutic applications Therapeutic targets Transcription Tumor cells Tumors Ubiquitin-Specific Proteases - genetics
ISSN:	2041-1723, 2041-1723
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