The Pleiotropic Effects of Fibroblast Growth Factor Receptors in Mammalian Development

Cell Structure and Function

Iain McIntosh¹  Ethylin Wang Jabs¹  Gary A. Bellus² 

[1] McKusick-Nathans Institute of Genetic Medicine, Center for Craniofacial Development and Disorders,;Center for Genetic Skin Disorders, Department of Dermatology, University of Colorado, UCHSC 4200 9th Avenue, Denver, Colorado 80262, USA

关键词: fibroblast growth factor receptors;    craniosynostosis;    short stature;    skeletal dysplasia;    acanthosis nigricans;    deafness;    Peters anomaly;    cancer;   

DOI  :  10.1247/csf.25.85

学科分类：分子生物学，细胞生物学和基因

来源: Japan Society for Cell Biology

【 摘 要 】

References(75)Cited-By(29)In recent years the study of fibroblast growth factor receptors (FGFRs) in normal development and human genetic disorders has increased our understanding of some complex cellular processes. At least fifteen genetic disorders result from mutations within FGFR genes including skeletal dysplasias such as Apert syndrome and achondroplasia. In vitro experiments and the generation of animal models indicate that these mutations result in activation of the receptors and that FGFRs act as negative regulators of bone growth. FGFRs also play a role in wound healing and cancer. In this article, we review the expression of FGFRs in human development, the phenotypes resulting from FGFR mutations, and recent data identifying pathways downstream of the activated receptors.

【 授权许可】

Unknown