Article
An Fgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton.
Disease models & mechanisms - 1 Apr 2021
Biosse Duplan Martin, Dambroise Emilie, Estibals Valentin, Veziers Joelle, Guicheux Jérome, Legeai-Mallet Laurence
Abstract excerpt
Achondroplasia (ACH), the most common form of dwarfism, is caused by a missense mutation in the gene coding for fibroblast growth factor receptor 3 (FGFR3). The resulting increase in FGFR3 signaling perturbs the proliferation and differentiation of chondrocytes (CCs), alters the process of endochondral ossification and thus reduces bone elongation. Increased FGFR3 signaling in osteoblasts (OBs) might also...
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