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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Detalles Bibliográficos
Autores principales: Wang, Yidi, Liu, Yue, Chen, Haotian, Liu, Xiaojing, Zhang, Yi, Wang, Yixiang, Gu, Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563077/
https://www.ncbi.nlm.nih.gov/pubmed/36231091
http://dx.doi.org/10.3390/cells11193129

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563077/
https://www.ncbi.nlm.nih.gov/pubmed/36231091
http://dx.doi.org/10.3390/cells11193129

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