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:Nat Commun
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: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2018
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6085354/
https://ncbi.nlm.nih.gov/pubmed/30093687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-05275-5
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