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Article

Introduction of a Cys360Tyr Mutation in ANO5 Creates a Mouse Model for Gnathodiaphyseal Dysplasia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2022

Li Hongyu, Wang Xiaoyu, Chen Erjun, Liu Xiu, Ma Xinrong, Miao Congcong, Tian Zhenchuan, Dong Rui, Hu Ying

Abstract excerpt

Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by the osteosclerosis of tubular bones and the formation of cemento-osseous lesions in mandibles. Although genetic mutations for GDD have been identified in the ANO5/TMEM16E gene, the cellular and molecular mechanisms behind the pathogenesis of GDD remain unclear. Here, we generated the first knock-in mouse model for GDD...

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PMID: 34841576
DOI: 10.1002/jbmr.4481

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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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