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Fam83h mutation causes mandible underdevelopment via CK1α-mediated Wnt/β-catenin signaling in male C57/BL6J mice.

Bone - 1 Jul 2023

He Zhenru, Wang Xin, Zheng Xueqing, Yang Chunhui, He Hong, Song Yaling

Abstract excerpt

Truncation mutations in FAM83H are the major cause of autosomal dominant hypocalcified amelogenesis imperfecta. Some studies also indicated that FAM83H could be involved in osteogenic differentiation; however, the function of FAM83H in bone formation was rarely explored. This study aimed to explore the effect of Fam83h mutation on skeletal development. We generated Fam83h c.1186C>T (p.Q396*) knockin C57/BL6J mice...

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Identifiers

PMID: 37028581
DOI: 10.1016/j.bone.2023.116756

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