EFFECT OF FGFR3 GENE MUTATION ON LINEAR BONE GROWTH

FGFR3 基因突变对线性骨生长的影响

• 批准号: 6264860
• 负责人: WILLIAM WILCOX
• 金额: $ 0.1万
• 依托单位: LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-12-01 至 1999-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6264860
• 关键词: achondroplasia; bone development; clinical research; fibroblast growth factor; gene mutation; growth factor receptors; human subject

Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been identified in achondroplasia, hypochondroplasia, thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia, San Diego type, four of the most common dwarfing conditions in humans. This work will define the role of FGFs in human chondro-osseous growth and provide an in vitro system for testing therapeutic approaches to achondroplasia.

成纤维细胞生长因子受体3 （FGFR3）基因突变已在软骨发育不全、软骨发育不全、嗜盐性发育不良和平椎致死性骨骼发育不良（圣地亚哥型）中被发现，这是人类最常见的四种侏儒疾病。这项工作将确定FGFs在人软骨骨生长中的作用，并提供一个体外系统来测试软骨发育不全的治疗方法。