Article
Identification of recurrent USP48 and BRAF mutations in Cushing's disease.
Nature communications - 9 Aug 2018
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
Abstract excerpt
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 wild-type tumors remain elusive. Here, we report recurrent mutations in the deubiquitinase gene USP48 (predominantly...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.