Hostname: page-component-77c89778f8-sh8wx Total loading time: 0 Render date: 2024-07-18T09:07:16.778Z Has data issue: false hasContentIssue false
  • English
  • Français

Molecular biology and the ENT surgeon in the millennium

Published online by Cambridge University Press:  29 June 2007

Andrew P. Read
Andrew P. Read
Affiliation:
University Department of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester M13 OJH. Fax: 0161-276-6605; Email: andrew.read@man.ac.uk.
Get access Rights & Permissions [Opens in a new window]

Abstract

An abstract is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Molecular Biology in Otolaryngology – Head and Neck Surgery Series
Information
The Journal of Laryngology & Otology , Volume 112 , Issue 1 , January 1998 , pp. 4 - 10
Copyright
Copyright © JLO (1984) Limited 1998

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Amiel, J., Attie, T., Jan, D., Pelet, A., Edery, P., Bidaud, C., Lacombe, D., Tam, P., Simeoni, J., Flori, E., Nihoul-Fekete, C., Munnich, A., Lyonnet, S. (1996) Heterozygous endothelin receptor B (ENDRB) mutations in isolated Hirschsprung disease. Human Molecular Genetics 5: 355–357.CrossRefGoogle Scholar
Baynash, A. G., Hosoda, K., Giaid, A., Richardson, J. A., Emoto, N., Hammer, R. E., Yanagisawa, M. (1994) Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell 79: 1277–1285.CrossRefGoogle ScholarPubMed
Edery, P., Attie, T., Amid, J., Pelet, A., Eng, C., Hofstra, R. M. W., Martelli, H., Bidaud, C., Munnich, A., Lyonnet, S. (1996) Mutation of the endothelm-3 gene in the Waardenburg-Hirshsprung disease (Shah-Waardenburg syndrome). Nature Genetics 12: 442–444.CrossRefGoogle ScholarPubMed
Foy, C., Newton, V. E., Wellesley, D., Harris, R., Read, A. P. (1990) Assignment of WS1 locus to human 2q37 and possible homology between Waardenburg syndrome and the Splotch mouse. American Journal of Human Genetics 46: 1017–1023.Google Scholar
Hofstra, R. M. W., 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. C. M. (1996) A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome). Nature Genetics 12: 445–447.CrossRefGoogle ScholarPubMed
Hosoda, K., Hammer, R. E., Richardson, J. A., Baynash, A. G., Cheung, J. C., Giaid, A., Yanagisawa, M. (1994) Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat colour in mice. Cell 79: 1267–1276.CrossRefGoogle ScholarPubMed
Hughes, A., Newton, V. E., Liu, X. Z., Read, A. P. (1994) A gene for Waardenburg syndrome type 2 maps to human chromosome 3p12–p14.l. Nature Genetics 7: 509–512.CrossRefGoogle Scholar
Laiwani, A. K., Walsh, B. J., Reilly, P. G., Muzyczka, N., Mhatre, A. N. (1996) Development of in vivo gene therapy for hearing disorders: introduction of adeno-associated virus into the cochlea of the guinea pig. Gene Therapy 3: 588–592.Google Scholar
Newton, V. E., Read, A. P. (1997) Waardenburg syndrome. Journal of Medical Genetics 34: 656–665.Google Scholar
Puffenberger, E. G., Hosoda, K., Washington, S. S., Nakao, K., deWit, D., Yanagisawa, M., Chakravarti, A. (1994) A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 79: 1257–1266.CrossRefGoogle ScholarPubMed
Tachibana, M., Perez-Jurado, L. A., Nakayama, A., Hodgkinson, C. A., Li, X., Schneider, M., Miki, T., Fex, J., Francke, U., Arnheiter, A. (1994) Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.l–p12.3. Human Molecular Genetics 3: 553–557.CrossRefGoogle Scholar
Tassabehji, M., Read, A. P., Newton, V. E., Harris, R., Balling, R., Gruss, P., Strachan, T. (1992) Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 355: 635–636.CrossRefGoogle ScholarPubMed
Tassabehji, M., Newton, V. E., Read, A. P. (1994) Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genetics 8: 251–255.CrossRefGoogle ScholarPubMed