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Article

Gain-of-function mutations in Trim71 linked to congenital hydrocephalus.

PLoS biology - 1 Feb 2023

Chen Yingying, Yang Xianfa, Jing Naihe

Abstract excerpt

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.

Topics

Animals
Mice
Gain of Function Mutation
Hydrocephalus
Cell Differentiation
Mutation
Wnt Signaling Pathway

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36757939
DOI: 10.1371/journal.pbio.3001993
PMCID: PMC9910648

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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