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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
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Disease relevance of Craniosynostoses


Psychiatry related information on Craniosynostoses


High impact information on Craniosynostoses


Chemical compound and disease context of Craniosynostoses


Biological context of Craniosynostoses


Anatomical context of Craniosynostoses


Gene context of Craniosynostoses

  • Here we report two identical mutations in FGFR2 that cause craniosynostosis syndromes, Crouzon, Apert, and Pfeiffer in gastric carcinoma [23].
  • OBJECT: Heterogeneous mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause a range of craniosynostosis syndromes [24].
  • Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses [25].
  • Mutations in FGFR1, -2, and -3 are linked to five human craniosynostosis syndromes [26].
  • The p148h mutation in Msx2 augments the Miz1 effect on Msx2 DNA binding, suggesting a reason why this mutation behaves in vivo as a dominant positive, and providing a potential explanation of the craniosynostosis phenotype [27].
  • These results illustrate a pathogenic role for ERK activation in craniosynostosis resulting from FGFR2 with the S252W substitution and introduce a new concept of small-molecule inhibitor-mediated prevention and therapy for diseases caused by gain-of-function mutations in the human genome [28].

Analytical, diagnostic and therapeutic context of Craniosynostoses


  1. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Bellus, G.A., Gaudenz, K., Zackai, E.H., Clarke, L.A., Szabo, J., Francomano, C.A., Muenke, M. Nat. Genet. (1996) [Pubmed]
  2. 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]
  3. FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis. Ohbayashi, N., Shibayama, M., Kurotaki, Y., Imanishi, M., Fujimori, T., Itoh, N., Takada, S. Genes Dev. (2002) [Pubmed]
  4. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. Twigg, S.R., Kan, R., Babbs, C., Bochukova, E.G., Robertson, S.P., Wall, S.A., Morriss-Kay, G.M., Wilkie, A.O. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  5. Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. van Rhijn, B.W., van Tilborg, A.A., Lurkin, I., Bonaventure, J., de Vries, A., Thiery, J.P., van der Kwast, T.H., Zwarthoff, E.C., Radvanyi, F. Eur. J. Hum. Genet. (2002) [Pubmed]
  6. Prenatal diagnosis of sporadic Apert syndrome: a sequential diagnostic approach combining three-dimensional computed tomography and molecular biology. Mahieu-Caputo, D., Sonigo, P., Amiel, J., Simon, I., Aubry, M.C., Lemerrer, M., Delezoïde, A.L., Gigarel, N., Dommergues, M., Dumez, Y. Fetal. Diagn. Ther. (2001) [Pubmed]
  7. Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18. Liu, Z., Xu, J., Colvin, J.S., Ornitz, D.M. Genes Dev. (2002) [Pubmed]
  8. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Moloney, D.M., Wall, S.A., Ashworth, G.J., Oldridge, M., Glass, I.A., Francomano, C.A., Muenke, M., Wilkie, A.O. Lancet (1997) [Pubmed]
  9. Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. Anderson, J., Burns, H.D., Enriquez-Harris, P., Wilkie, A.O., Heath, J.K. Hum. Mol. Genet. (1998) [Pubmed]
  10. Conditional inactivation of FGF receptor 2 reveals an essential role for FGF signaling in the regulation of osteoblast function and bone growth. Yu, K., Xu, J., Liu, Z., Sosic, D., Shao, J., Olson, E.N., Towler, D.A., Ornitz, D.M. Development (2003) [Pubmed]
  11. Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2. Mangasarian, K., Li, Y., Mansukhani, A., Basilico, C. J. Cell. Physiol. (1997) [Pubmed]
  12. A morphometric, neuroanatomical, and behavioral study on the effects of geometric constraint on the growing brain: the methyl 2-cyanoacrylate craniosynostosis model. Lam, C.H., Sethi, K.A., Low, W.C. J. Neurosurg. (2005) [Pubmed]
  13. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. Renier, D., El-Ghouzzi, V., Bonaventure, J., Le Merrer, M., Lajeunie, E. J. Neurosurg. (2000) [Pubmed]
  14. Polyglycolic acid membrane interpositioning for the prevention of skull deformity following experimental craniosynostosis. Antikainen, T., Kallioinen, M., Pohjonen, T., Törmälä, P., Waris, T., Serlo, W. Pediatric neurosurgery. (1994) [Pubmed]
  15. Assignment of FGF8 to human chromosome 10q25-q26: mutations in FGF8 may be responsible for some types of acrocephalosyndactyly linked to this region. White, R.A., Dowler, L.L., Angeloni, S.V., Pasztor, L.M., MacArthur, C.A. Genomics (1995) [Pubmed]
  16. Receptors for fibroblast growth factors. Coutts, J.C., Gallagher, J.T. Immunol. Cell Biol. (1995) [Pubmed]
  17. The in utero correction of unilateral coronal craniosynostosis. Stelnicki, E.J., Vanderwall, K., Harrison, M.R., Longaker, M.T., Kaban, L.B., Hoffman, W.Y. Plast. Reconstr. Surg. (1998) [Pubmed]
  18. Studies in cranial suture biology: up-regulation of transforming growth factor-beta1 and basic fibroblast growth factor mRNA correlates with posterior frontal cranial suture fusion in the rat. Most, D., Levine, J.P., Chang, J., Sung, J., McCarthy, J.G., Schendel, S.A., Longaker, M.T. Plast. Reconstr. Surg. (1998) [Pubmed]
  19. Muenke syndrome. Sabatino, G., Di Rocco, F., Zampino, G., Tamburrini, G., Caldarelli, M., Di Rocco, C. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. (2004) [Pubmed]
  20. Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. El Ghouzzi, V., Lajeunie, E., Le Merrer, M., Cormier-Daire, V., Renier, D., Munnich, A., Bonaventure, J. Eur. J. Hum. Genet. (1999) [Pubmed]
  21. Raman imaging demonstrates FGF2-induced craniosynostosis in mouse calvaria. Crane, N.J., Morris, M.D., Ignelzi, M.A., Yu, G. Journal of biomedical optics. (2005) [Pubmed]
  22. Correction of coronal suture synostosis using suture and dura mater allografts in rabbits with familial craniosynostosis. Mooney, M.P., Burrows, A.M., Smith, T.D., Losken, H.W., Opperman, L.A., Dechant, J., Kreithen, A.M., Kapucu, R., Cooper, G.M., Ogle, R.C., Siegel, M.I. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. (2001) [Pubmed]
  23. Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. Jang, J.H., Shin, K.H., Park, J.G. Cancer Res. (2001) [Pubmed]
  24. Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes. Britto, J.A., Moore, R.L., Evans, R.D., Hayward, R.D., Jones, B.M. J. Neurosurg. (2001) [Pubmed]
  25. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Passos-Bueno, M.R., Sertié, A.L., Richieri-Costa, A., Alonso, L.G., Zatz, M., Alonso, N., Brunoni, D., Ribeiro, S.F. Am. J. Med. Genet. (1998) [Pubmed]
  26. Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development. Chan, C.T., Thorogood, P. Pediatr. Res. (1999) [Pubmed]
  27. Miz1, a novel zinc finger transcription factor that interacts with Msx2 and enhances its affinity for DNA. Wu, L., Wu, H., Ma, L., Sangiorgi, F., Wu, N., Bell, J.R., Lyons, G.E., Maxson, R. Mech. Dev. (1997) [Pubmed]
  28. RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Shukla, V., Coumoul, X., Wang, R.H., Kim, H.S., Deng, C.X. Nat. Genet. (2007) [Pubmed]
  29. Prenatal diagnosis of Apert syndrome. Hansen, W.F., Rijhsinghani, A., Grant, S., Yankowitz, J. Fetal. Diagn. Ther. (2004) [Pubmed]
  30. Coronal suture response to distraction osteogenesis in rabbits with delayed-onset craniosynostosis. Losken, H.W., Mooney, M.P., Zoldos, J., Tschakaloff, A., Burrows, A.M., Smith, T.D., Cano, G., Arnott, R., Sherwood, C., Dechant, J., Cooper, G.M., Kapucu, M.R., Siegel, M.I. The Journal of craniofacial surgery. (1999) [Pubmed]
  31. FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. Thomas, G.P., Wilkie, A.O., Richards, P.G., Wall, S.A. The Journal of craniofacial surgery. (2005) [Pubmed]
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