Human immortalized chondrocytes carrying heterozygous FGFR3 mutations: an in vitro model to study chondrodysplasias.

doi:10.1016/j.febslet.2007.04.079

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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...

Topics

Cell Differentiation
Cell Line, Transformed
Cells, Cultured
Chondrocytes
Collagen Type II
Cyclin-Dependent Kinase Inhibitor p21
Gene Expression
Heterozygote
High Mobility Group Proteins
Humans
Immunoblotting
Microscopy, Fluorescence
Mitogen-Activated Protein Kinases

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Osteochondrodysplasias

RNA, Messenger

Receptor, Fibroblast Growth Factor, Type 3

Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 17507011
DOI: 10.1016/j.febslet.2007.04.079

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.