title: [Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia].
abstract: FGFR3 has been establishing its position in growth plate cartilage after the identification as a responsible gene for achondroplasia. The major pathway of the pathogenesis in achondroplasia is the suppression of PTHrP-PTHR system, which is mainly mediated by ERK activation induced by constitutive active FGFR3. However, intracellular signaling system in FGFR3 is complex and the molecular pathogenesis of achondroplasia and related disorders has not been fully clarified. Especially, recently found human loss-of-function mutations in newly identified syndromes casted novel findings in the relation between phenotype and receptor function. In this review, I summarized recent consensus in the pathogenesis of FGFR3 related chondrodysplasia.
authors.affiliation: Department of Pediatrics, Okayama Saiseikai General Hospital.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Tanaka
mesh_terms: D000130:Achondroplasia / Q000235:genetics*; D000818:Animals; D002356:Cartilage; D004195:Disease Models, Animal; D048049:Extracellular Signal-Regulated MAP Kinases / Q000502:physiology; D006132:Growth Plate; D006801:Humans; D007072:Immunoglobulin D; D051379:Mice; D009154:Mutation; D044162:Parathyroid Hormone-Related Protein; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism / Q000502:physiology*; D044168:Receptor, Parathyroid Hormone, Type 1; D015398:Signal Transduction / Q000502:physiology*
chemical_list: D007072:Immunoglobulin D; D044162:Parathyroid Hormone-Related Protein; D044168:Receptor, Parathyroid Hormone, Type 1; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3; D048049:Extracellular Signal-Regulated MAP Kinases