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Updated: Sep 19, 2025

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在RING手指蛋白213中,de novo变异会导致全身血管病变

Ayako Kashimada1, Tomoko Mizuno1, Eriko Tanaka2

  • 1Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan.

JCI insight
|June 9, 2025
PubMed
概括

新的研究确定了与罕见的全身动脉狭窄症,莫亚莫亚病 (MMD) 和中主动脉综合征 (MAS) 相关的RNF213变体. 鼠标模型显示,这些变异影响肺部发育和免疫反应,这表明RNF213.3具有更广泛的作用.

关键词:
发展发展发展 发展发展遗传性疾病是一种遗传性疾病.这是天生的免疫力.血管生物学 血管生物学

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