Article
Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis.
Human molecular genetics - 1 Apr 2010
Su Nan, Sun Qidi, Li Can, Lu Xiumin, Qi Huabing, Chen Siyu, Yang Jing, Du Xiaolan, Zhao Ling, He Qifen, Jin Min, Shen Yue, Chen Di, Chen Lin
Abstract excerpt
Achondroplasia (ACH) is a short-limbed dwarfism resulting from gain-of-function mutations in fibroblast growth factor receptor 3 (FGFR3). Previous studies have shown that ACH patients have impaired chondrogenesis, but the effects of FGFR3 on bone formation and bone remodeling at adult stages of ACH have not been fully investigated. Using micro-computed tomography and histomorphometric analyses, we found that...
Topics
- Achondroplasia
- Animals
- Bone Density
- Bone Resorption
- Calcification, Physiologic
- Cell Differentiation
- Cell Proliferation
- Chondrogenesis
- Disease Models, Animal
- Mice
- Mutation
- Osteoblasts
- Osteoclasts