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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 Acrocephalosyndactylia


High impact information on Acrocephalosyndactylia


Chemical compound and disease context of Acrocephalosyndactylia


Biological context of Acrocephalosyndactylia


Anatomical context of Acrocephalosyndactylia


Gene context of Acrocephalosyndactylia

  • Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome [18].
  • Here we show that mice carrying a Pro250Arg mutation in Fgfr1, which is orthologous to the Pfeiffer syndrome mutation in humans, exhibit anterio-posteriorly shortened, laterally widened and vertically heightened neurocraniums [19].
  • The crystal structure, of Pro252Arg FGFR1c in complex with FGF2, demonstrates that the enhanced ligand binding is due to an additional set of receptor-ligand hydrogen bonds, similar to those gain-of-function interactions that occur in the Apert syndrome Pro253Arg FGFR2c-FGF2 crystal structure [20].
  • However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10 [20].
  • Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome [21].

Analytical, diagnostic and therapeutic context of Acrocephalosyndactylia


  1. De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Oldridge, M., Zackai, E.H., McDonald-McGinn, D.M., Iseki, S., Morriss-Kay, G.M., Twigg, S.R., Johnson, D., Wall, S.A., Jiang, W., Theda, C., Jabs, E.W., Wilkie, A.O. Am. J. Hum. Genet. (1999) [Pubmed]
  2. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. Galvin, B.D., Hart, K.C., Meyer, A.N., Webster, M.K., Donoghue, D.J. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  3. 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]
  4. Hydrocephalus and mental retardation in craniosynostosis. Noetzel, M.J., Marsh, J.L., Palkes, H., Gado, M. J. Pediatr. (1985) [Pubmed]
  5. Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses. Robson, C.D., Mulliken, J.B., Robertson, R.L., Proctor, M.R., Steinberger, D., Barnes, P.D., McFarren, A., Müller, U., Zurakowski, D. AJNR. American journal of neuroradiology. (2000) [Pubmed]
  6. Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities. Firulli, B.A., Krawchuk, D., Centonze, V.E., Vargesson, N., Virshup, D.M., Conway, S.J., Cserjesi, P., Laufer, E., Firulli, A.B. Nat. Genet. (2005) [Pubmed]
  7. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Howard, T.D., Paznekas, W.A., Green, E.D., Chiang, L.C., Ma, N., Ortiz de Luna, R.I., Garcia Delgado, C., Gonzalez-Ramos, M., Kline, A.D., Jabs, E.W. Nat. Genet. (1997) [Pubmed]
  8. 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]
  9. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Rutland, P., Pulleyn, L.J., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R.M., Oldridge, M., Slaney, S.F. Nat. Genet. (1995) [Pubmed]
  10. Sequence analyses and comparative modeling of fly and worm fibroblast growth factor receptors indicate that the determinants for FGF and heparin binding are retained in evolution. Nagendra, H.G., Harrington, A.E., Harmer, N.J., Pellegrini, L., Blundell, T.L., Burke, D.F. FEBS Lett. (2001) [Pubmed]
  11. Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome. Tartaglia, M., Valeri, S., Velardi, F., Di Rocco, C., Battaglia, P.A. Hum. Genet. (1997) [Pubmed]
  12. Successful treatment of the acne of Apert syndrome with isotretinoin. Robison, D., Wilms, N.A. J. Am. Acad. Dermatol. (1989) [Pubmed]
  13. Novel mutation in the tyrosine kinase domain of FGFR2 in a patient with Pfeiffer syndrome. Zankl, A., Jaeger, G., Bonafé, L., Boltshauser, E., Superti-Furga, A. Am. J. Med. Genet. A (2004) [Pubmed]
  14. Increased bone formation and decreased osteocalcin expression induced by reduced Twist dosage in Saethre-Chotzen syndrome. Yousfi, M., Lasmoles, F., Lomri, A., Delannoy, P., Marie, P.J. J. Clin. Invest. (2001) [Pubmed]
  15. Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. van Herwerden, L., Rose, C.S., Reardon, W., Brueton, L.A., Weissenbach, J., Malcolm, S., Winter, R.M. Am. J. Hum. Genet. (1994) [Pubmed]
  16. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Paznekas, W.A., Cunningham, M.L., Howard, T.D., Korf, B.R., Lipson, M.H., Grix, A.W., Feingold, M., Goldberg, R., Borochowitz, Z., Aleck, K., Mulliken, J., Yin, M., Jabs, E.W. Am. J. Hum. Genet. (1998) [Pubmed]
  17. 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]
  18. Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Yu, K., Herr, A.B., Waksman, G., Ornitz, D.M. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  19. A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures. Zhou, Y.X., Xu, X., Chen, L., Li, C., Brodie, S.G., Deng, C.X. Hum. Mol. Genet. (2000) [Pubmed]
  20. Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. Ibrahimi, O.A., Zhang, F., Eliseenkova, A.V., Linhardt, R.J., Mohammadi, M. Hum. Mol. Genet. (2004) [Pubmed]
  21. Mutations in snail family genes enhance craniosynostosis of Twist1 haplo-insufficient mice: implications for Saethre-Chotzen Syndrome. Oram, K.F., Gridley, T. Genetics (2005) [Pubmed]
  22. Localization of craniosynostosis Adelaide type to 4p16. Hollway, G.E., Phillips, H.A., Adès, L.C., Haan, E.A., Mulley, J.C. Hum. Mol. Genet. (1995) [Pubmed]
  23. Prenatal diagnosis of Pfeiffer syndrome type II. Blaumeiser, B., Loquet, P., Wuyts, W., Nöthen, M.M. Prenat. Diagn. (2004) [Pubmed]
  24. Dual midfacial distraction osteogenesis: Le Fort III minus I and Le Fort I for syndromic craniosynostosis. Satoh, K., Mitsukawa, N., Hosaka, Y. Plast. Reconstr. Surg. (2003) [Pubmed]
  25. A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: case report and differential diagnosis. Sergi, C., Stein, H., Heep, J.G., Otto, H.F. Pathol. Res. Pract. (1997) [Pubmed]
  26. Component bone marker displacements revealed by image-corrected cephalometric analysis. A lateral cephalometric study of the cranium in normal and craniosynostosis--an implant study. Spolyar, J.L., Canady, A. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. (1996) [Pubmed]
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