The DOI matches its Crossref record; 85 of the 85 references it cites were found in a registry or an index.
Splicing in action: assessing disease causing sequence changes
Open accessAbstract
Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor (pre) mRNA splicing. These mutations can result in either complete skipping of the exon, retention of the intron, or the introduction of a new splice site within an exon or intron. Sometimes mutations that do not disrupt or create a splice site activate pre-existing pseudo splice sites, consistent with the proposal that introns contain splicing inhibitory sequences. These variants can also affect the fine balance of isoforms produced by alternatively spliced exons and in consequence cause disease. Available genomic pathology data reveal that we are still partly ignorant of the basic mechanisms that underlie the pre-mRNA splicing process. The fact that human pathology can provide pointers to new modulatory elements of splicing should be exploited.
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Cites
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Zuker, M. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg595 · Cited by 13,404
Mechanisms of Alternative Pre-Messenger RNA Splicing
Black, D. L. (2003) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.72.121801.161720 · Cited by 2,704
Shapiro, M. B., & Senapathy, P. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.17.7155 · Cited by 2,275
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
ESEfinder: a web resource to identify exonic splicing enhancers
Cartegni, L. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg616 · Cited by 1,603
Krawczak, M., Reiss, J., & Cooper, D. (1992) · Human Genetics · doi:10.1007/bf00210743 · Cited by 1,324
Pre-mRNA splicing and human disease
Faustino, N. A., & Cooper, T. A. (2003) · Genes & Development · doi:10.1101/gad.1048803 · Cited by 1,256
Algorithms and Thermodynamics for RNA Secondary Structure Prediction: A Practical Guide
Zuker, M., Mathews, D. H., & Turner, D. H. (1999) · RNA Biochemistry and Biotechnology · doi:10.1007/978-94-011-4485-8_2 · Cited by 1,137
Integrating mRNA Processing with Transcription
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Sorting out the complexity of SR protein functions
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Cited by
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science · doi:10.1126/science.1215040 · Cited by 1,272
Germline BAP1 Mutations Predispose to Malignant Mesothelioma
Testa, J. R., Cheung, M., Pei, J., Below, J. E., Tan, Y., Sementino, E., Cox, N. J., Dogan, A. U., Pass, H. I., Trusa, S., et al. (2011) · Nature Genetics · doi:10.1038/ng.912 · Cited by 1,076
Lemos, M. C., & Thakker, R. V. (2008) · Human Mutation · doi:10.1002/humu.20605 · Cited by 675
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
In silico prediction of splice-altering single nucleotide variants in the human genome
Jian, X., Boerwinkle, E., & Liu, X. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku1206 · Cited by 537
Metadata
- Authors
- Baralle, D., & Baralle, M.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2005-09-30
- Volume
- 42
- Issue
- 10
- Pages
- 737-748
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2167914935
- Cited by
- 508
- References
- 85
- FWCI
- 5.99
- Type
- journal article
- Language
- en
- Open access
- bronze
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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