Gain-of-function mutations in Trim71 linked to congenital hydrocephalus
Yingying Chen1, Xianfa Yang1, Naihe Jing1,2
1Guangzhou Laboratory, Guangzhou, China.
Plos Biology
|February 9, 2023
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.


