Article
Endothelial hyperactivation of mutant MAP3K3 induces cerebral cavernous malformation enhanced by PIK3CA GOF mutation.
Angiogenesis - 1 May 2023
Huo Ran, Yang Yingxi, Sun Yingfan, Zhou Qiuxia, Zhao Shaozhi, Mo Zongchao, Xu Hongyuan, Wang Jie, Weng Jiancong, Jiao Yuming, Zhang Junze, He Qiheng, Wang Shuo, Zhao Jizong, Wang Jiguang, Cao Yong
Abstract excerpt
Cerebral cavernous malformations (CCMs) refer to a common vascular abnormality that affects up to 0.5% of the population. A somatic gain-of-function mutation in MAP3K3 (p.I441M) was recently reported in sporadic CCMs, frequently accompanied by somatic activating PIK3CA mutations in diseased endothelium. However, the molecular mechanisms of these driver genes remain elusive. In this study, we performed whole-exome...
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