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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Thanatophoric Dysplasia

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Disease relevance of Thanatophoric Dysplasia


High impact information on Thanatophoric Dysplasia


Chemical compound and disease context of Thanatophoric Dysplasia


Biological context of Thanatophoric Dysplasia


Anatomical context of Thanatophoric Dysplasia


Gene context of Thanatophoric Dysplasia

  • Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia [20].
  • We present 13 cases of thanatophoric dysplasia collected in the Spanish Collaborative Study of Congenital Malformations from a total population of 517,970 births [21].
  • The heterogeneous group of platyspondylic lethal skeletal dysplasias (PLSD) originally included thanatophoric dysplasias (TD1/2: MIM 187600, 187100) as the most common forms of this condition, as well as TD variants San Diego type (PLSD-SD: MIM 270230) and Torrance-Luton type (PLSD-TL: MIM 151210) [22].


  1. Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Naski, M.C., Wang, Q., Xu, J., Ornitz, D.M. Nat. Genet. (1996) [Pubmed]
  2. Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization. Adar, R., Monsonego-Ornan, E., David, P., Yayon, A. J. Bone Miner. Res. (2002) [Pubmed]
  3. Transformation and Stat activation by derivatives of FGFR1, FGFR3, and FGFR4. Hart, K.C., Robertson, S.C., Kanemitsu, M.Y., Meyer, A.N., Tynan, J.A., Donoghue, D.J. Oncogene (2000) [Pubmed]
  4. Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin. Stanescu, V., Do, T.P., Chaminade, F., Maroteaux, P., Stanescu, R. Am. J. Med. Genet. (1994) [Pubmed]
  5. Antenatal detection of skeletal dysplasias. Parilla, B.V., Leeth, E.A., Kambich, M.P., Chilis, P., MacGregor, S.N. Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. (2003) [Pubmed]
  6. Perlecan is essential for cartilage and cephalic development. Arikawa-Hirasawa, E., Watanabe, H., Takami, H., Hassell, J.R., Yamada, Y. Nat. Genet. (1999) [Pubmed]
  7. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Meyers, G.A., Orlow, S.J., Munro, I.R., Przylepa, K.A., Jabs, E.W. Nat. Genet. (1995) [Pubmed]
  8. 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]
  9. Constitutively activated FGFR3 mutants signal through PLCgamma-dependent and -independent pathways for hematopoietic transformation. Chen, J., Williams, I.R., Lee, B.H., Duclos, N., Huntly, B.J., Donoghue, D.J., Gilliland, D.G. Blood (2005) [Pubmed]
  10. Effects of fibroblast growth factor-2 on longitudinal bone growth. Mancilla, E.E., De Luca, F., Uyeda, J.A., Czerwiec, F.S., Baron, J. Endocrinology (1998) [Pubmed]
  11. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Rousseau, F., el Ghouzzi, V., Delezoide, A.L., Legeai-Mallet, L., Le Merrer, M., Munnich, A., Bonaventure, J. Hum. Mol. Genet. (1996) [Pubmed]
  12. The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum. Lievens, P.M., Liboi, E. J. Biol. Chem. (2003) [Pubmed]
  13. A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Tavormina, P.L., Bellus, G.A., Webster, M.K., Bamshad, M.J., Fraley, A.E., McIntosh, I., Szabo, J., Jiang, W., Jabs, E.W., Wilcox, W.R., Wasmuth, J.J., Donoghue, D.J., Thompson, L.M., Francomano, C.A. Am. J. Hum. Genet. (1999) [Pubmed]
  14. Telomere length, telomerase activity, and expression of human telomerase reverse transcriptase mRNA in growth plate of epiphyseal articular cartilage in femoral head during normal human development and in thanatophoric dysplasia. Morita, M., Nakanishi, K., Kawai, T., Fujikawa, K. Hum. Pathol. (2004) [Pubmed]
  15. Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3. Bellus, G.A., Bamshad, M.J., Przylepa, K.A., Dorst, J., Lee, R.R., Hurko, O., Jabs, E.W., Curry, C.J., Wilcox, W.R., Lachman, R.S., Rimoin, D.L., Francomano, C.A. Am. J. Med. Genet. (1999) [Pubmed]
  16. Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings. Chen, C.P., Chern, S.R., Chang, T.Y., Lin, C.J., Wang, W., Tzen, C.Y. Prenat. Diagn. (2002) [Pubmed]
  17. The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas. Kimura, T., Suzuki, H., Ohashi, T., Asano, K., Kiyota, H., Eto, Y. Cancer (2001) [Pubmed]
  18. Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses. Delezoide, A.L., Lasselin-Benoist, C., Legeai-Mallet, L., Brice, P., Senée, V., Yayon, A., Munnich, A., Vekemans, M., Bonaventure, J. Hum. Mol. Genet. (1997) [Pubmed]
  19. PTHrP rescues ATDC5 cells from apoptosis induced by FGF receptor 3 mutation. Yamanaka, Y., Tanaka, H., Koike, M., Nishimura, R., Seino, Y. J. Bone Miner. Res. (2003) [Pubmed]
  20. FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. Monsonego-Ornan, E., Adar, R., Rom, E., Yayon, A. FEBS Lett. (2002) [Pubmed]
  21. Thanatophoric dysplasia: an autosomal dominant condition? Martínez-Frías, M.L., Ramos-Arroyo, M.A., Salvador, J. Am. J. Med. Genet. (1988) [Pubmed]
  22. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type. Neumann, L., Kunze, J., Uhl, M., Stöver, B., Zabel, B., Spranger, J. Pediatric radiology. (2003) [Pubmed]
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