The DOI matches its Crossref record; 64 of the 64 references it cites were found in a registry or an index.
Waardenburg Syndrome
Open accessAbstract
Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene. Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be caused by mutations in the genes for endothelin-3 or one of its receptors, EDNRB. Type II WS is a heterogeneous group, about 15% of whom are heterozygous for mutations in the MITF (microphthalmia associated transcription factor) gene. All these forms show marked variability even within families, and at present it is not possible to predict the severity, even when a mutation is detected. Characterising the genes is helping to unravel important developmental pathways in the neural crest and its derivatives.
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Cites
Nonsense-mediated mRNA decayin health and disease
Frischmeyer, P. A. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.10.1893 · Cited by 992
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Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.
Goulding, M. D., Chalepakis, G., Deutsch, U., Erselius, J. R., & Gruss, P. (1991) · The EMBO Journal · doi:10.1002/j.1460-2075.1991.tb08054.x · Cited by 908
Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma
Galili, N., Davis, R. J., Fredericks, W. J., Mukhopadhyay, S., Rauscher, F. J., Emanuel, B. S., Rovera, G., & Barr, F. G. (1993) · Nature Genetics · doi:10.1038/ng1193-230 · Cited by 892
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
Puffenberger, E. G., Hosoda, K., Washington, S. S., Nakao, K., deWit, D., Yanagisawa, M., & Chakravarti, A. (1994) · Cell · doi:10.1016/0092-8674(94)90016-7 · Cited by 887
Tajbakhsh, S., Rocancourt, D., Cossu, G., & Buckingham, M. (1997) · Cell · doi:10.1016/s0092-8674(00)80189-0 · Cited by 844
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
Pingault, V., Bondurand, N., Kuhlbrodt, K., Goerich, D. E., Préhu, M.-O., Puliti, A., Herbarth, B., Hermans-Borgmeyer, I., Legius, E., Matthijs, G., et al. (1998) · Nature Genetics · doi:10.1038/ng0298-171 · Cited by 825
Self-citationSOX10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
Southard-Smith, E. M., Kos, L., & Pavan, W. J. (1998) · Nature Genetics · doi:10.1038/ng0198-60 · Cited by 738
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
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Self-citationHemesath, T. J., Steingrímsson, E., McGill, G., Hansen, M. J., Vaught, J., Hodgkinson, C. A., Arnheiter, H., Copeland, N. G., Jenkins, N. A., & Fisher, D. E. (1994) · Genes & Development · doi:10.1101/gad.8.22.2770 · Cited by 673
Cited by
Melanocytes and the Microphthalmia Transcription Factor Network
Steingrímsson, E., Copeland, N. G., & Jenkins, N. A. (2004) · Annual Review of Genetics · doi:10.1146/annurev.genet.38.072902.092717 · Cited by 771
Cranial neural crest cells on the move: Their roles in craniofacial development
Cordero, D. R., Brugmann, S., Chu, Y., Bajpai, R., Jame, M., & Helms, J. A. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33702 · Cited by 305
Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4
Bondurand, N., Dastot-Le Moal, F., Stanchina, L., Collot, N., Baral, V., Marlin, S., Attie-Bitach, T., Giurgea, I., Skopinski, L., Reardon, W., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522090 · Cited by 261
Globularization and domestication.
Benítez-Burraco, A., Theofanopoulou, C., & Boeckx, C. (2018) · Topoi · doi:10.1007/s11245-016-9399-7 · Cited by 42
Metadata
- Authors
- Read, A. P.
- Venue
- Principles of Molecular Medicine
- Publisher
- Humana Press
- Published
- 1998
- Volume
- 34
- Issue
- 8
- Pages
- 1015-1019
- OpenAlex
- W2609006218
- Cited by
- 485
- References
- 64
- FWCI
- 15.99
- Type
- book chapter
- Language
- en
- Open access
- bronze
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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