Fibroblast growth factor receptor 3 K650E mutation for type II thanatophoric dysplasia
Summary:
Analysis of PC12 cells expressing fibroblast growth factor receptor 3 (FGFR3) K650E mutant responsible for thanatophoric dysplasia (TD) type II. Mutant receptor expressed as a chimera of FGFR3 and platelet derived growth factor receptor. Results provide insight into TD type II pathogenesis.
Nowroozi N, Raffioni S, Wang T, Apostol BL et al. Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells. Hum Mol Genet 2005 Jun 1;14(11):1529-38. PMID: 15843401
