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- Title
Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: An in vitro model to study chondrodysplasias
- Authors
Benoist-Lasselin, Catherine; Gibbs, Linda; Heuertz, Solange; Odent, Thierry; Munnich, Arnold; Legeai-Mallet, Laurence
- Abstract
Abstract: 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 in the mutant lines as revealed by the constitutive activation of the STAT pathway and an increased level of P21WAF1/CIP1 protein. This model will be useful for the study of FGFR3 function in cartilage studies and future therapeutic approaches in chondrodysplasias.
- Subjects
CARTILAGE cells; BONE cells; DYSPLASIA; CONNECTIVE tissues
- Publication
FEBS Letters, 2007, Vol 581, Issue 14, p2593
- ISSN
0014-5793
- Publication type
Article
- DOI
10.1016/j.febslet.2007.04.079