Article
Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.
Molecular medicine (Cambridge, Mass.) - 1 Jan 2000
Fanganiello Roberto D, Sertié Andréa L, Reis Eduardo M, Yeh Erika, Oliveira Nélio A J, Bueno Daniela F, Kerkis Irina, Alonso Nivaldo, Cavalheiro Sérgio, Matsushita Hamilton, Freitas Renato, Verjovski-Almeida Sergio, Passos-Bueno Maria Rita
Abstract excerpt
Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant gain-of-function mutations in FGFR2. Because the periosteum contribution to AS cranial pathophysiology is unknown, we tested the osteogenic potential of AS periosteal cells (p.Ser252Trp mutation) and observed that these cells are more committed toward the osteoblast lineage. To delineate the gene expression profile involved in this...
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