Mutations in fibroblast growth factor receptors: Phenotypic consequences during eukaryotic development

Journal Article · Sun Oct 01 04:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:236342

Park, W J; Bellus, G A; Jabs, E W ^[1]

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1. Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)

Recently, a tremendous amount of excitement and interest has been generated by the rapid succession of discoveries in the human fibroblast growth factor receptor (FGFR) field. In less than a year, mutations in three FGFRs (FGFR1-FGFR3) have been associated with three skeletal dysplasias and four craniosynostotic syndromes. FGFRs are members of the receptor tyrosine kinase family that bind fibroblast growth factors (FGFs). The FGF family consists of structurally related polypeptides that play a key role in numerous aspects of embryogenesis, growth, and homeostasis. FGFs have a potent growth stimulatory and/or differentiation-inducing effect on cells such as those derived from the early-embryonic mesoderm or ectoderm. In addition to mitogenesis and differentiation, FGFs also stimulate chemotaxis, cell survival, and angiogenesis. FGFs mediate cellular responses on binding to and activation of FGFRs. 45 refs., 2 figs., 1 tab.

• OSTI ID: 236342
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 4 Vol. 57; ISSN 0002-9297; ISSN AJHGAG
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
FIBROBLASTS
GENE MUTATIONS
GENES
GROWTH
GROWTH FACTORS
MUTATIONS
ONTOGENESIS
PATIENTS
PHENOTYPE
PHOSPHOTRANSFERASES
POLYPEPTIDES
RECEPTORS
SKELETAL DISEASES
STRUCTURE-ACTIVITY RELATIONSHIPS
TYROSINE