[Fibroblast growth factor receptor and achondroplasia].
Fibroblast growth factor receptor 3 (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 parathyroid hormone-related protein (PTHrP)-parathyroid hormone receptor (PTHR) system, which is mainly mediated by extracellular signal regulated kinase (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. In this review, I summarized recent consensus in the pathogenesis of FGFR3 related chondrodysplasia.
Tanaka
Hiroyuki
H
Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Department of Pediatrics.
D000130:Achondroplasia / Q000235:genetics*; D048049:Extracellular Signal-Regulated MAP Kinases / Q000378:metabolism; D006801:Humans; D009154:Mutation; D020098:Natriuretic Peptide, C-Type / Q000502:physiology; D044162:Parathyroid Hormone-Related Protein / Q000378:metabolism; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics* / Q000502:physiology; D050794:STAT1 Transcription Factor / Q000378:metabolism; D015398:Signal Transduction / Q000502:physiology
D044162:Parathyroid Hormone-Related Protein; D017468:Receptors, Fibroblast Growth Factor; D050794:STAT1 Transcription Factor; C494079:STAT1 protein, human; D020098:Natriuretic Peptide, C-Type; D048049:Extracellular Signal-Regulated MAP Kinases