TRIM71 基因功能获得性突变与先天性脑积水有关。
Gain-of-function mutations in Trim71 linked to congenital hydrocephalus.
机构信息
Guangzhou Laboratory, Guangzhou, China.
CAS Key Laboratory of Regenerative Biology, Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China.
出版信息
PLoS Biol. 2023 Feb 9;21(2):e3001993. doi: 10.1371/journal.pbio.3001993. eCollection 2023 Feb.
Abstract
The genetic basis of congenital hydrocephalus is only partially understood. A new study in PLOS Biology reports a potential gain-of-function pathological mechanism of congenital hydrocephalus in mouse embryonic stem cells that involves Wnt-β-catenin signaling pathway regulation.
摘要
先天性脑积水的遗传基础部分已知。PLOS Biology 上的一项新研究报告了一种潜在的 Wnt-β-catenin 信号通路调控的、涉及小鼠胚胎干细胞的先天性脑积水功能获得性病理机制。
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