Article
Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation
29 Jul 2019
Abstract excerpt
FAM83H mutations lead to autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI). However, the biological role of FAM83H remains unclear. The present study aimed to characterize the alveolar bone cells isolated from a patient with ADHCAI having the mutation, c.1261G > T, p.E421*, in FAM83H. We showed that FAM83H mutant cells had proliferation ability and morphology similar to the controls. The F-actin...
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