Article
Somatic GJA4 mutation in intracranial extra-axial cavernous hemangiomas.
Stroke and vascular neurology - 29 Dec 2023
Huo Ran, Yang Yingxi, Xu Hongyuan, Zhao Shaozhi, Song Dong, Weng Jiancong, Ma Ruochen, Sun Yingfan, Wang Jie, Jiao Yuming, Zhang Junze, He Qiheng, Wu Ruolei, Wang Shuo, Zhao Ji-Zong, Zhang Junting, Wang Jiguang, Cao Yong
Abstract excerpt
OBJECTIVE: Extra-axial cavernous hemangiomas (ECHs) are sporadic and rare intracranial occupational lesions that usually occur within the cavernous sinus. The aetiology of ECHs remains unknown. METHODS: Whole-exome sequencing was performed on ECH lesions from 12 patients (discovery cohort) and droplet digital polymerase-chain-reaction (ddPCR) was used to confirm the identified mutation in 46 additional cases...
Topics
- Humans
- Animals
- Mice
- Endothelial Cells
- Hemangioma, Cavernous, Central Nervous System
- Hemangioma, Cavernous
- Mutation
- Signal Transduction