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MeSH Review

Waardenburg's Syndrome

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Disease relevance of Waardenburg's Syndrome


High impact information on Waardenburg's Syndrome


Chemical compound and disease context of Waardenburg's Syndrome


Biological context of Waardenburg's Syndrome


Anatomical context of Waardenburg's Syndrome


Gene context of Waardenburg's Syndrome


Analytical, diagnostic and therapeutic context of Waardenburg's Syndrome


  1. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma. Barr, F.G., Galili, N., Holick, J., Biegel, J.A., Rovera, G., Emanuel, B.S. Nat. Genet. (1993) [Pubmed]
  2. Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. Steingrímsson, E., Moore, K.J., Lamoreux, M.L., Ferré-D'Amaré, A.R., Burley, S.K., Zimring, D.C., Skow, L.C., Hodgkinson, C.A., Arnheiter, H., Copeland, N.G. Nat. Genet. (1994) [Pubmed]
  3. Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2. Lee, M., Goodall, J., Verastegui, C., Ballotti, R., Goding, C.R. J. Biol. Chem. (2000) [Pubmed]
  4. Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans. Moase, C.E., Trasler, D.G. J. Med. Genet. (1992) [Pubmed]
  5. Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus. Hallsson, J.H., Favor, J., Hodgkinson, C., Glaser, T., Lamoreux, M.L., Magnúsdóttir, R., Gunnarsson, G.J., Sweet, H.O., Copeland, N.G., Jenkins, N.A., Steingrímsson, E. Genetics (2000) [Pubmed]
  6. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Watanabe, A., Takeda, K., Ploplis, B., Tachibana, M. Nat. Genet. (1998) [Pubmed]
  7. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Hofstra, R.M., Osinga, J., Tan-Sindhunata, G., Wu, Y., Kamsteeg, E.J., Stulp, R.P., van Ravenswaaij-Arts, C., Majoor-Krakauer, D., Angrist, M., Chakravarti, A., Meijers, C., Buys, C.H. Nat. Genet. (1996) [Pubmed]
  8. Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4. Coyle, B., Coffey, R., Armour, J.A., Gausden, E., Hochberg, Z., Grossman, A., Britton, K., Pembrey, M., Reardon, W., Trembath, R. Nat. Genet. (1996) [Pubmed]
  9. Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1. Steel, K.P., Smith, R.J. Nat. Genet. (1992) [Pubmed]
  10. Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. Lalwani, A.K., Brister, J.R., Fex, J., Grundfast, K.M., Ploplis, B., San Agustin, T.B., Wilcox, E.R. Am. J. Hum. Genet. (1995) [Pubmed]
  11. A second conponent of atropine mydriasis. Korczyn, A.D., Laor, N. Invest. Ophthalmol. Vis. Sci. (1977) [Pubmed]
  12. Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse. Foy, C., Newton, V., Wellesley, D., Harris, R., Read, A.P. Am. J. Hum. Genet. (1990) [Pubmed]
  13. Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Takeda, K., Takemoto, C., Kobayashi, I., Watanabe, A., Nobukuni, Y., Fisher, D.E., Tachibana, M. Hum. Mol. Genet. (2000) [Pubmed]
  14. PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse. Tassabehji, M., Newton, V.E., Leverton, K., Turnbull, K., Seemanova, E., Kunze, J., Sperling, K., Strachan, T., Read, A.P. Hum. Mol. Genet. (1994) [Pubmed]
  15. Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family. Lalwani, A.K., Attaie, A., Randolph, F.T., Deshmukh, D., Wang, C., Mhatre, A., Wilcox, E. Am. J. Med. Genet. (1998) [Pubmed]
  16. Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1. Morell, R., Carey, M.L., Lalwani, A.K., Friedman, T.B., Asher, J.H. Hum. Hered. (1997) [Pubmed]
  17. Sumoylation of the SOX10 transcription factor regulates its transcriptional activity. Girard, M., Goossens, M. FEBS Lett. (2006) [Pubmed]
  18. The role of Pax3 and Pax7 in development and cancer. Mansouri, A. Critical reviews in oncogenesis. (1998) [Pubmed]
  19. Cyclic AMP a key messenger in the regulation of skin pigmentation. Buscà, R., Ballotti, R. Pigment Cell Res. (2000) [Pubmed]
  20. Microphthalmia: a signal responsive transcriptional regulator in development. Fisher, D.E. Pigment Cell Res. (2000) [Pubmed]
  21. Waardenburg syndrome with a fixed dilated pupil. Laor, N., Korczyn, A.D. The British journal of ophthalmology. (1978) [Pubmed]
  22. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Lang, D., Epstein, J.A. Hum. Mol. Genet. (2003) [Pubmed]
  23. Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. Verastegui, C., Bille, K., Ortonne, J.P., Ballotti, R. J. Biol. Chem. (2000) [Pubmed]
  24. Mutations of the endothelin-B receptor and endothelin-3 genes in Hirschsprung's disease. Kusafuka, T., Puri, P. Pediatr. Surg. Int. (1997) [Pubmed]
  25. Melanocytes and the microphthalmia transcription factor network. Steingrímsson, E., Copeland, N.G., Jenkins, N.A. Annu. Rev. Genet. (2004) [Pubmed]
  26. Effects of Pax3 modifier genes on craniofacial morphology, pigmentation, and viability: a murine model of Waardenburg syndrome variation. Asher, J.H., Harrison, R.W., Morell, R., Carey, M.L., Friedman, T.B. Genomics (1996) [Pubmed]
  27. The Waardenburg syndrome type 4 gene, SOX10, is a novel tumor-associated antigen identified in a patient with a dramatic response to immunotherapy. Khong, H.T., Rosenberg, S.A. Cancer Res. (2002) [Pubmed]
  28. Mutation in intron 6 of the hamster Mitf gene leads to skipping of the subsequent exon and creates a novel animal model for the human Waardenburg syndrome type II. Graw, J., Pretsch, W., Löster, J. Genetics (2003) [Pubmed]
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