Article
Peripheral blood GATA2 expression impacts RNF213 mutation penetrance and clinical severity in moyamoya disease.
Stroke and vascular neurology - 23 Dec 2025
Mineharu Yohei, Kamata Takahiko, Tomoto Mei, Sato Noriaki, Tamada Yoshinori, Funaki Takeshi, Oichi Yuki, Harada Kouji H, Koizumi Akio, Kimura Tetsuaki, Inoue Ituro, Okuno Yasushi, Miyamoto Susumu, Arakawa Yoshiki
Abstract excerpt
BACKGROUND: The p.R4810K founder mutation in the RNF213 gene confers susceptibility to moyamoya disease (MMD) and non-MMD intracranial artery disease. However, penetrance is incomplete, and the underlying molecular mechanism remains unknown. METHODS AND RESULTS: Transcriptome analysis of peripheral blood was conducted with nine MMD patients and five unaffected mutation carriers from four familial MMD pedigrees....
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