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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Animals
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Bone Development*
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Craniofacial Abnormalities / etiology
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Craniofacial Abnormalities / genetics
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Craniosynostoses / etiology
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Craniosynostoses / genetics
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Disease Models, Animal
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Extracellular Matrix / physiology
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Humans
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Limb Deformities, Congenital / etiology
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Limb Deformities, Congenital / genetics
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Mice
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Musculoskeletal Abnormalities / etiology*
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Musculoskeletal Abnormalities / genetics
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Mutation
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Neoplasms / etiology
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Neoplasms / genetics
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Phenotype
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Receptors, Fibroblast Growth Factor / chemistry
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Receptors, Fibroblast Growth Factor / genetics
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Receptors, Fibroblast Growth Factor / physiology*
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Signal Transduction
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Skin Diseases / etiology
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Skin Diseases / genetics
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Wound Healing
Substances
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Receptors, Fibroblast Growth Factor