The pleiotropic effects of fibroblast growth factor receptors in mammalian development

Iain McIntosh, Gary A. Bellus, Ethylin Wang Jabs

Research output: Contribution to journalArticlepeer-review

64 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)85-96
Number of pages12
JournalCell Structure and Function
Issue number2
StatePublished - Apr 2000


  • Acanthosis nigricans
  • Cancer
  • Craniosynostosis
  • Deafness
  • Fibroblast growth factor receptors
  • Peters anomaly
  • Short stature
  • Skeletal dysplasia

ASJC Scopus subject areas

  • Physiology
  • Structural Biology
  • Cell Biology


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