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

被引：10

作者：

Benoist-Lasselin, Catherine ^{[1
]}

Gibbs, Linda ^{[1
]}

Heuertz, Solange ^{[1
]}

Odent, Thierry ^{[1
]}

Munnich, Arnold ^{[1
]}

Legeai-Mallet, Laurence ^{[1
]}

机构：

[1] Hop Necker Enfants Malad, INSERM, U781, F-75015 Paris, France

来源：

FEBS LETTERS | 2007年 / 581卷 / 14期

关键词：

FGFR3; mutations; human immortalized chondrocytes; chondrodysplasias;

D O I：

10.1016/j.febslet.2007.04.079

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 P21(WAF1/CIP1) protein. This model will be useful for the study of FGFR3 function in cartilage studies and future therapeutic approaches in chondrodysplasias. (c) 2007 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

引用

页码：2593 / 2598

页数：6

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