Article
Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome.
Science (New York, N.Y.) - 23 May 2014
Cao Yanan, He Minghui, Gao Zhibo, Peng Ying, Li Yanli, Li Lin, Zhou Weiwei, Li Xiangchun, Zhong Xu, Lei Yiming, Su Tingwei, Wang Hang, Jiang Yiran, Yang Lin, Wei Wei, Yang Xu, Jiang Xiuli, Liu Li, He Juan, Ye Junna, Wei Qing, Li Yingrui, Wang Weiqing, Wang Jun, Ning Guang
Abstract excerpt
Adrenal Cushing's syndrome is caused by excess production of glucocorticoid from adrenocortical tumors and hyperplasias, which leads to metabolic disorders. We performed whole-exome sequencing of 49 blood-tumor pairs and RNA sequencing of 44 tumors from cortisol-producing adrenocortical adenomas...
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