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Article

A New Wnt1 Mutant Rat Model of Osteogenesis Imperfecta and Its Application in AAV9-Mediated Gene Therapy.

Human mutation - 1 Jan 2026

Li Shan, Chen Xiumin, Cao Yixuan, Han Mingchen, Guan Feifei, Ren Xiuzhi, Mi Huan, Yang Tao, Li Mei, Zhao Xiuli

Abstract excerpt

Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous bone disorder, with more than 20 genes contributing to OI development. Previously, we identified WNT1 c.620G > A (p.Arg207His) mutation among Chinese patients with autosomal recessive OI (AR-OI). This study aims at investigating the causative role of WNT1 deficiency in OI and evaluate whether AAV-based gene therapy could ameliorate bone...

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Source

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Identifiers

PMID: 42181740
DOI: 10.1155/humu/7351808
PMCID: PMC13191825

Genes

WNT1
AR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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