Peripheral blood GATA2 expression impacts RNF213 mutation penetrance and clinical severity in moyamoya disease

Peripheral blood GATA2 expression impacts RNF213 mutation penetrance and clinical severity in moyamoya disease

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 blo...

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Main Authors: Ituro Inoue, Susumu Miyamoto, Kouji H Harada, Akio Koizumi, Yohei Mineharu, Yoshiki Arakawa, Takahiko Kamata, Mei Tomoto, Noriaki Sato, Yoshinori Tamada, Takeshi Funaki, Yuki Oichi, Tetsuaki Kimura, Yasushi Okuno
Format: Article
Language:English
Published: BMJ Publishing Group
Series:Stroke and Vascular Neurology
Online Access:https://svn.bmj.com/content/early/2025/04/23/svn-2024-003970.full
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