P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation

• Published in: Journal of cellular physiology Vol. 202; no. 2; pp. 524 - 535
• Main Authors: Baroni, Tiziano, Carinci, Paolo, Lilli, Cinzia, Bellucci, Catia, Aisa, Maria Cristina, Scapoli, Luca, Volinia, Stefano, Carinci, Francesco, Pezzetti, Furio, Calvitti, Mario, Farina, Antonio, Conte, Carmela, Bodo, Maria
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.02.2005
• Subjects: Acrocephalosyndactylia - genetics; Acrocephalosyndactylia - pathology; Adolescent; Arginine; Cell Differentiation; Cells, Cultured; Core Binding Factor Alpha 1 Subunit; Genetic Variation; Humans; Mutation; Neoplasm Proteins - genetics; Osteoblasts - pathology; Parietal Bone; Proline; Receptor Protein-Tyrosine Kinases - genetics; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor - genetics; RNA, Messenger - genetics; Transcription Factors - genetics

Unregulated fibroblast growth factor 2 (FGF2) signaling caused by mutations in the fibroblast growth factor receptor (FGFR2) leads to human craniosynostosis such as the Apert syndrome. In an in vitro control model of calvarial osteoblasts from Apert patients carrying the FGFR2 P253R mutation, we stu...