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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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085354/
https://www.ncbi.nlm.nih.gov/pubmed/30093687
http://dx.doi.org/10.1038/s41467-018-05275-5