Article
Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias.
FEBS letters - 12 Jun 2007
Benoist-Lasselin Catherine, Gibbs Linda, Heuertz Solange, Odent Thierry, Munnich Arnold, Legeai-Mallet Laurence
Abstract excerpt
Achondroplasia and thanatophoric dysplasia are human chondrodysplasias caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We have developed an immortalized human chondrocyte culture model to study the regulation of chondrocyte functions. One control and eight mutant chondrocytic lines expressing different FGFR3 heterozygous mutations were obtained. FGFR3 signaling pathways were modified...
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