The pleiotropic effects of fibroblast growth factor receptors in mammalian development

Iain McIntosh, Gary A. Bellus, Ethylin Wang Jabs

Research output: Contribution to journalArticle

Abstract

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
Volume25
Issue number2
DOIs
StatePublished - Apr 2000

Fingerprint

Fibroblast Growth Factor Receptors
Inborn Genetic Diseases
Mutation
Acrocephalosyndactylia
Achondroplasia
Bone Development
Medical Genetics
Human Development
Wound Healing
Animal Models
Phenotype
Genes
Neoplasms

Keywords

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

ASJC Scopus subject areas

  • Physiology
  • Structural Biology
  • Cell Biology

Cite this

The pleiotropic effects of fibroblast growth factor receptors in mammalian development. / McIntosh, Iain; Bellus, Gary A.; Jabs, Ethylin Wang.

In: Cell Structure and Function, Vol. 25, No. 2, 04.2000, p. 85-96.

Research output: Contribution to journalArticle

McIntosh, Iain ; Bellus, Gary A. ; Jabs, Ethylin Wang. / The pleiotropic effects of fibroblast growth factor receptors in mammalian development. In: Cell Structure and Function. 2000 ; Vol. 25, No. 2. pp. 85-96.
@article{f096e948118f469a8ee55c5afc99db79,
title = "The pleiotropic effects of fibroblast growth factor receptors in mammalian development",
abstract = "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.",
keywords = "Acanthosis nigricans, Cancer, Craniosynostosis, Deafness, Fibroblast growth factor receptors, Peters anomaly, Short stature, Skeletal dysplasia",
author = "Iain McIntosh and Bellus, {Gary A.} and Jabs, {Ethylin Wang}",
year = "2000",
month = "4",
doi = "10.1247/csf.25.85",
language = "English (US)",
volume = "25",
pages = "85--96",
journal = "Cell Structure and Function",
issn = "0386-7196",
publisher = "Japan Society for Cell Biology",
number = "2",

}

TY - JOUR

T1 - The pleiotropic effects of fibroblast growth factor receptors in mammalian development

AU - McIntosh, Iain

AU - Bellus, Gary A.

AU - Jabs, Ethylin Wang

PY - 2000/4

Y1 - 2000/4

N2 - 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.

AB - 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.

KW - Acanthosis nigricans

KW - Cancer

KW - Craniosynostosis

KW - Deafness

KW - Fibroblast growth factor receptors

KW - Peters anomaly

KW - Short stature

KW - Skeletal dysplasia

UR - http://www.scopus.com/inward/record.url?scp=0033922217&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033922217&partnerID=8YFLogxK

U2 - 10.1247/csf.25.85

DO - 10.1247/csf.25.85

M3 - Article

C2 - 10885578

AN - SCOPUS:0033922217

VL - 25

SP - 85

EP - 96

JO - Cell Structure and Function

JF - Cell Structure and Function

SN - 0386-7196

IS - 2

ER -