FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome

FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome

Background: Crouzon syndrome ([OMIM] #123500) caused by FGFR2 mutation is an autosomal dominant syndrome with craniosynostosis, the underlying mechanism of which remains obscure. Methods: First, whole exome sequencing was used to screen the possible pathogenic variant in two sporadic patients with C...

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Bibliographic Details
Main Authors: Yidi Wang, Yue Liu, Haotian Chen, Xiaojing Liu, Yi Zhang, Yixiang Wang, Yan Gu
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Cells
Subjects:
craniosynostosis
constitutive activation mutation
osteogenic differentiation
mitochondrial metabolism
AMPK
Online Access:https://www.mdpi.com/2073-4409/11/19/3129

Internet

https://www.mdpi.com/2073-4409/11/19/3129

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