0389825 - BFÚ 2013 RIV US eng J - Journal Article
Merrill, A.E. - Sarukhanov, A. - Krejčí, Pavel - Idoni, B. - Carmacho, N. - Estrada, K.D. - Lyons, K.M. - Deixler, H. - Robinson, H. - Chitayat, D. - Curry, C.J. - Lachman, R.S. - Wilcox, W.R. - Krakow, D.
Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling.
American Journal of Human Genetics. Roč. 90, č. 3 (2012), s. 550-557. ISSN 0002-9297. E-ISSN 1537-6605
Grant - others:-(US) HD22657; -(US) 5 P30 DE020750-02
Institutional research plan: CEZ:AV0Z50040702
Institutional support: RVO:68081707
Keywords : APERT-SYNDROME * LADD SYNDROME * GROWTH
Subject RIV: BO - Biophysics
Impact factor: 11.202, year: 2012

Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development. Both gain and loss-of-function studies in mice have shown that FGFR2 maintains a critical balance between the proliferation and differentiation of osteoprogenitor cells. We have identified de novo FGFR2 mutations in a sporadically occurring perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Histological analysis of the long bones revealed that the growth plate contained smaller hypertrophic chondrocytes and a thickened hypercellular periosteum.
Permanent Link: http://hdl.handle.net/11104/0218724