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Review
. 2010 Oct;20(10):1490-6.

[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]

[Article in Japanese]
Hiroyuki Tanaka  1
Affiliations
  • PMID: 20890030
Review

[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]

[Article in Japanese]
Hiroyuki Tanaka. Clin Calcium. 2010 Oct.

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.

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