... chemicals that disrupt normal endocrine signaling at the receptor or signal transduction level are thought to play an essential role in etiology. This study aimed to investigate the receptor gene expressions of the sex hormones and FGFR2 , HOXA13 , and TGFB1 , which are considered to play an essential role...

..., FGF signaling blocks Noggin translation in a dose-dependent fashion, either by direct application of FGF2 or by transfection of osteoblasts with FGFR2 gain-of-function mutations. Finally, overexpression of Noggin using an adenovirus in postnatal mice at day 3 led to abnormal maintenance...

...Shannon LeBlanc; David David; Alison Colley; Michael Buckley; Tony Roscioli; Christopher Barnett Crouzon syndrome (CS) and Beare-Stevenson syndrome (BSS) are craniosynostosis syndromes caused by mutations in the fibroblast growth factor 2 ( FGFR2 ) gene. CS is more common (1 in 60,000 live births...

...Luitgard M. Graul-Neumann; Eva Klopocki; Nicolai Adolphs; Martin A. Mensah; Wolfram Kress Crouzon syndrome craniofacial dysostosis type I [OMIM 123500] is caused by mutations in the gene encoding fibroblast growth factor receptor-2 ( FGFR2 ). An overlapping phenotype with Muenke and Crouzon...