The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
ESEfinder: a web resource to identify exonic splicing enhancers
Open accessAbstract
Point mutations frequently cause genetic diseases by disrupting the correct pattern of pre-mRNA splicing. The effect of a point mutation within a coding sequence is traditionally attributed to the deduced change in the corresponding amino acid. However, some point mutations can have much more severe effects on the structure of the encoded protein, for example when they inactivate an exonic splicing enhancer (ESE), thereby resulting in exon skipping. ESEs also appear to be especially important in exons that normally undergo alternative splicing. Different classes of ESE consensus motifs have been described, but they are not always easily identified. ESEfinder (http://exon.cshl.edu/ESE/) is a web-based resource that facilitates rapid analysis of exon sequences to identify putative ESEs responsive to the human SR proteins SF2/ASF, SC35, SRp40 and SRp55, and to predict whether exonic mutations disrupt such elements.
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Citations
Cites
Listening to silence and understanding nonsense: exonic mutations that affect splicing
Cartegni, L., Chew, S. L., & Krainer, A. R. (2002) · Nature Reviews Genetics · doi:10.1038/nrg775 · Cited by 2,209
Self-citation
Cited by
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936
the GIANT Consortium (2009) · Nature Genetics · doi:10.1038/ng.287 · Cited by 1,720
Leber congenital amaurosis: Genes, proteins and disease mechanisms
den Hollander, A. I., Roepman, R., Koenekoop, R. K., & Cremers, F. P. M. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.05.003 · Cited by 811
Splicing mutations in human genetic disorders: Examples, detection, and confirmation
Anna, A., & Monika, G. (2018) · Journal of Applied Genetics · doi:10.1007/s13353-018-0444-7 · Cited by 657
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy
Amoasii, L., Hildyard, J. C. W., Li, H., Sanchez-Ortiz, E., Mireault, A., Caballero, D., Harron, R., Stathopoulou, T.-R., Massey, C., Shelton, J. M., et al. (2018) · Science · doi:10.1126/science.aau1549 · Cited by 546
Metadata
- Authors
- Cartegni, L.
- Venue
- Nucleic Acids Research
- Publisher
- Oxford University Press (OUP)
- Published
- 2003-07-01
- Volume
- 31
- Issue
- 13
- Pages
- 3568-3571
- ISSN
- 0305-1048 (ISSN-L)
- 1362-4962
- OpenAlex
- W2129682060
- Cited by
- 1,603
- References
- 1
- FWCI
- 25.09
- Type
- journal article
- Language
- en
- Open access
- bronze
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