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Disease relevance of Achondroplasia


High impact information on Achondroplasia


Chemical compound and disease context of Achondroplasia


Biological context of Achondroplasia


Anatomical context of Achondroplasia


Gene context of Achondroplasia

  • Mutations causing achondroplasia are in FGFR3, suggesting that mutations in this gene may cause TD [21].
  • Although loss of Stat1 restored the reduced chondrocyte proliferation in mice expressing an achondroplasia mutant of Fgfr3, it did not rescue the reduced hypertrophic zone, the delay in formation of secondary ossification centers, and the achondroplasia-like phenotype [1].
  • A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia [22].
  • We have also reported that growth hormone (GH) treatment increased the growth rate in achondroplasia in parallel with the increment of serum levels of insulin-like growth factor (IGF)-1, suggesting an important role of IGF-1 in skeletal development [23].
  • The observations provide evidence that targeted, in vivo activation of endogenous FGFR3 inhibits bone growth and demonstrate that signals derived from FGF9-FGFR3 interactions can physiologically block endochondral ossification to produce a phenotype characteristic of the achondroplasia group of human chondrodysplasias [24].

Analytical, diagnostic and therapeutic context of Achondroplasia


  1. Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype. Murakami, S., Balmes, G., McKinney, S., Zhang, Z., Givol, D., de Crombrugghe, B. Genes Dev. (2004) [Pubmed]
  2. Transmembrane domain sequence requirements for activation of the p185c-neu receptor tyrosine kinase. Chen, L.I., Webster, M.K., Meyer, A.N., Donoghue, D.J. J. Cell Biol. (1997) [Pubmed]
  3. SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia. Sweetman, W.A., Rash, B., Sykes, B., Beighton, P., Hecht, J.T., Zabel, B., Thomas, J.T., Boot-Handford, R., Grant, M.E., Wallis, G.A. Am. J. Hum. Genet. (1992) [Pubmed]
  4. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Glaser, R.L., Jiang, W., Boyadjiev, S.A., Tran, A.K., Zachary, A.A., Van Maldergem, L., Johnson, D., Walsh, S., Oldridge, M., Wall, S.A., Wilkie, A.O., Jabs, E.W. Am. J. Hum. Genet. (2000) [Pubmed]
  5. Significance of low serum alkaline phosphatase activity in a predominantly adult male population. Lum, G. Clin. Chem. (1995) [Pubmed]
  6. Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3. Colvin, J.S., Bohne, B.A., Harding, G.W., McEwen, D.G., Ornitz, D.M. Nat. Genet. (1996) [Pubmed]
  7. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Bellus, G.A., McIntosh, I., Smith, E.A., Aylsworth, A.S., Kaitila, I., Horton, W.A., Greenhaw, G.A., Hecht, J.T., Francomano, C.A. Nat. Genet. (1995) [Pubmed]
  8. Letter: Serum somatomedin-C in achondroplasia. Horton, W.A., Rimoin, D.L., Underwood, L.E., Van Wyk, J. N. Engl. J. Med. (1976) [Pubmed]
  9. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Yasoda, A., Komatsu, Y., Chusho, H., Miyazawa, T., Ozasa, A., Miura, M., Kurihara, T., Rogi, T., Tanaka, S., Suda, M., Tamura, N., Ogawa, Y., Nakao, K. Nat. Med. (2004) [Pubmed]
  10. Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Rousseau, F., Bonaventure, J., Legeai-Mallet, L., Pelet, A., Rozet, J.M., Maroteaux, P., Le Merrer, M., Munnich, A. Nature (1994) [Pubmed]
  11. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. Webster, M.K., Donoghue, D.J. EMBO J. (1996) [Pubmed]
  12. Achondroplasia is defined by recurrent G380R mutations of FGFR3. Bellus, G.A., Hefferon, T.W., Ortiz de Luna, R.I., Hecht, J.T., Horton, W.A., Machado, M., Kaitila, I., McIntosh, I., Francomano, C.A. Am. J. Hum. Genet. (1995) [Pubmed]
  13. Apoptosis of granulosa cells and female infertility in achondroplastic mice expressing mutant fibroblast growth factor receptor 3G374R. Amsterdam, A., Kannan, K., Givol, D., Yoshida, Y., Tajima, K., Dantes, A. Mol. Endocrinol. (2001) [Pubmed]
  14. Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375). Nishimura, G., Fukushima, Y., Ohashi, H., Ikegawa, S. Am. J. Med. Genet. (1995) [Pubmed]
  15. A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia. Superti-Furga, A., Eich, G., Bucher, H.U., Wisser, J., Giedion, A., Gitzelmann, R., Steinmann, B. Eur. J. Pediatr. (1995) [Pubmed]
  16. Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis. Chen, L., Adar, R., Yang, X., Monsonego, E.O., Li, C., Hauschka, P.V., Yayon, A., Deng, C.X. J. Clin. Invest. (1999) [Pubmed]
  17. A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors. Li, C., Chen, L., Iwata, T., Kitagawa, M., Fu, X.Y., Deng, C.X. Hum. Mol. Genet. (1999) [Pubmed]
  18. The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Vajo, Z., Francomano, C.A., Wilkin, D.J. Endocr. Rev. (2000) [Pubmed]
  19. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Pauli, R.M., Horton, V.K., Glinski, L.P., Reiser, C.A. Am. J. Hum. Genet. (1995) [Pubmed]
  20. Transplantation of marrow-derived mesenchymal stem cells and platelet-rich plasma during distraction osteogenesis--a preliminary result of three cases. Kitoh, H., Kitakoji, T., Tsuchiya, H., Mitsuyama, H., Nakamura, H., Katoh, M., Ishiguro, N. Bone (2004) [Pubmed]
  21. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Tavormina, P.L., Shiang, R., Thompson, L.M., Zhu, Y.Z., Wilkin, D.J., Lachman, R.S., Wilcox, W.R., Rimoin, D.L., Cohn, D.H., Wasmuth, J.J. Nat. Genet. (1995) [Pubmed]
  22. A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. Chen, L., Li, C., Qiao, W., Xu, X., Deng, C. Hum. Mol. Genet. (2001) [Pubmed]
  23. Insulin-like growth factor-1 rescues the mutated FGF receptor 3 (G380R) expressing ATDC5 cells from apoptosis through phosphatidylinositol 3-kinase and MAPK. Koike, M., Yamanaka, Y., Inoue, M., Tanaka, H., Nishimura, R., Seino, Y. J. Bone Miner. Res. (2003) [Pubmed]
  24. Skeletal dysplasia and defective chondrocyte differentiation by targeted overexpression of fibroblast growth factor 9 in transgenic mice. Garofalo, S., Kliger-Spatz, M., Cooke, J.L., Wolstin, O., Lunstrum, G.P., Moshkovitz, S.M., Horton, W.A., Yayon, A. J. Bone Miner. Res. (1999) [Pubmed]
  25. Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties. Moutou, C., Rongieres, C., Bettahar-Lebugle, K., Gardes, N., Philippe, C., Viville, S. Hum. Reprod. (2003) [Pubmed]
  26. Achondroplasia is not caused by mutation in the gene for type II collagen. Francomano, C.A., Pyeritz, R.E. Am. J. Med. Genet. (1988) [Pubmed]
  27. FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation. Chen, H., Mu, X., Sonoda, T., Kim, K.C., Dailey, K., Martinez, J., Tuck-Muller, C., Wertelecki, W. South. Med. J. (2000) [Pubmed]
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