FGFR activation in skeletal disorders: too much of a good thing.
During the past two years, a growing number of mutations have been identified in three of the four members of the fibroblast growth factor receptor (FGFR) family as causing autosomal dominant disorders of skeletal and cranial development. These mutations map to the extracellular domain, the transmembrane domain, or the tyrosine kinase domain of these receptors. Recent studies demonstrate that a common mechanism, constitutive activation of receptors signaling, underlies most, if not all, of these disorders. This suggests a normal role for FGFRs in the negative regulation of bone growth.
Webster
M K
MK
Department of Chemistry and Biochemistry, University of California, San Diego, La Jolla 92093-0367, USA. mwebster@chemucsd.edu
Donoghue
D J
DJ
D000595:Amino Acid Sequence; D000818:Animals; D001848:Bone Diseases, Developmental / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics*; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
D017468:Receptors, Fibroblast Growth Factor