Article
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.
The Journal of clinical investigation - 1 Dec 1999
Chen L, Adar R, Yang X, Monsonego E O, Li C, Hauschka P V, Yayon A, Deng C X
Abstract excerpt
Missense mutations in fibroblast growth factor receptor 3 (FGFR3) result in several human skeletal dysplasias, including the most common form of dwarfism, achondroplasia. Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3...
Topics
- Achondroplasia
- Animals
- Bone and Bones
- Cell Line
- Chondrogenesis
- Dimerization
- Disease Models, Animal
- Fibroblast Growth Factors
- Gene Targeting
- Humans
- Immunohistochemistry
- In Situ Hybridization
- Mice
- Mutation