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Article

The swaying mouse as a model of osteogenesis imperfecta caused by WNT1 mutations.

Human molecular genetics - 1 Aug 2014

Joeng Kyu Sang, Lee Yi-Chien, Jiang Ming-Ming, Bertin Terry K, Chen Yuqing, Abraham Annie M, Ding Hao, Bi Xiaohong, Ambrose Catherine G, Lee Brendan H

Abstract excerpt

Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue characterized by bone fragility and low bone mass. Recently, our group and others reported that WNT1 recessive mutations cause OI, whereas WNT1 heterozygous mutations cause early onset osteoporosis. These findings support the hypothesis that WNT1 is an important WNT ligand regulating bone formation and bone homeostasis. While these studies...

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Source

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Identifiers

PMID: 24634143
DOI: 10.1093/hmg/ddu117
PMCID: PMC4082367

Genes

WNT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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