Ano5Cys360Tyr mutation leads to bone dysfunction of gnathodiaphyseal dysplasia via disturbing Akt signaling

Background: Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by osteosclerosis of the tubular bones and cemento-osseous lesions of the mandibles. Anoctamin 5 (ANO5) is the pathogenic gene, however, the specific molecular mechanism of GDD remains unclear. He...

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Bibliographic Details
Main Authors: Hongyu Li, Shengnan Wang, Shuai Zhang, Rui Dong, Congcong Miao, Zhenchuan Tian, Ying Hu
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Bone Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2352187225000026
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