雑誌文献を検索します。書籍を検索する際には「書籍検索」を選択してください。

検索

書誌情報 詳細検索 by 医中誌

Japanese

Association of Rare RNF213 Variants and Moyamoya Disease Hiroyuki AKAGAWA 1 1Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University Keyword: レアバリアント , 関連解析 , RNF213遺伝子 , もやもや病 , rare variant , association analysis , RNF213 , moyamoya disease pp.499-507
Published Date 2025/5/10
DOI https://doi.org/10.11477/mf.030126030530030499
  • Abstract
  • Look Inside
  • Reference

 Rare RNF213 variants other than p.R4810K(rs112735431) have been identified in Asian and European patients with moyamoya disease. Several studies have consistently demonstrated that putative functional variants are significantly more prevalent in patients than in the general population, with the aid of bioinformatics tools, such as Combined Annotation-Dependent Depletion. Among these rare susceptibility variants, p.R4062Q(rs1555676035) has been repeatedly reported in severe pediatric cases with moyamoya disease. Three-dimensional structural analysis suggested that this may cause a loss of polar contact with the D4003 residue, leading to instability of the E3 ligase module in RNF213. Rare susceptibility variants tend to accumulate in this E3 module in pediatric cases, which may influence the severity of the clinical manifestations. Further research, including in vitro and in vivo functional analyses of the variants, is required to develop precision medicine.


Copyright © 2025, Igaku-Shoin Ltd. All rights reserved.

基本情報

電子版ISSN 1882-1251 印刷版ISSN 0301-2603 医学書院

関連文献

もっと見る

文献を共有