Alternative splicing in disease and therapy
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Summary
Alternative splicing is the major source of proteome diversity in humans and thus is highly relevant to disease and therapy, and modified oligonucleotides to inhibit cryptic exons or to activate exons weakened by mutations could eventually lead to effective therapies.
- Type
- article
- Published
- 2004-05-01
- Cited by
- 557
- References
- 190
- OpenAlex
- https://openalex.org/W2070564797
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:32915358
Keywords
Exon, RNA splicing, Alternative splicing, Disease, Exon skipping
References
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- An archaeal endoribonuclease catalyzes cis- and trans- nonspliceosomal splicing in mouse cells
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- A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17.
- Cloning and sequencing of the cDNA encoding an isoform of microtubule‐associated protein tau containing four tandem repeats: differential expression of tau protein mRNAs in human brain.
- Frequent Occurrence of the CFTR Intron 8 (TG)n 5T Allele in Men with Congenital Bilateral Absence of the Vas Deferens
- Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II
- Induction of endogenous Bcl-xS through the control of Bcl-x pre-mRNA splicing by antisense oligonucleotides
- Expression of separate isoforms of human tau protein: correlation with the tau pattern in brain and effects on tubulin polymerization.
- Modification of alternative splicing by antisense oligonucleotides as a potential chemotherapy for cancer and other diseases.
- Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
- Interferons and IRF-1 Induce Expression of the Survival Motor Neuron (SMN) Genes
- Partial correction of endogenous ΔF508 CFTR in human cystic fibrosis airway epithelia by spliceosome-mediated RNA trans-splicing
- Spliceosome-mediated RNA trans-splicing as a tool for gene therapy
- Sex-lethal autoregulation requires multiple cis-acting elements upstream and downstream of the male exon and appears to depend largely on controlling the use of the male exon 5' splice site
- An Intronic Sequence Element Mediates Both Activation and Repression of Rat Fibroblast Growth Factor Receptor 2 Pre-mRNA Splicing
- Exon switching and activation of stromal and embryonic fibroblast growth factor (FGF)-FGF receptor genes in prostate epithelial cells accompany stromal independence and malignancy
- An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t(16;21) chromosomal translocation.
- Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature
- Nuclear factor TDP‐43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
Cited by
- Genomic analysis of RNA alternative splicing in cancers.
- Epigenetics--gene silencing.
- Single base‐pair substitutions in exon–intron junctions of human genes: nature, distribution, and consequences for mRNA splicing
- Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides
- Systematic evaluation of the effect of common SNPs on pre‐mRNA splicing
- Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics
- Muscle-Specific Mis-Splicing and Heart Disease Exemplified by RBM20
- Downregulation of TdT Expression through Splicing Modulation by Antisense Peptide Nucleic Acid (PNA).
- Pre-mRNA missplicing as a cause of human disease.
- Post-Transcriptional Regulation In The Drosophila Sex Determination Pathway
- Methods and platforms for the quantification of splice variants' expression.
- Rational modifications of cell-penetrating peptides for drug delivery : Applications in tumor targeting and oligonucleotide delivery
- The Role of Polyadenylation in Human Papillomavirus Type 16 Late Gene Expression
- Alternative splicing of pre-mRNA in cancer: focus on G protein-coupled peptide hormone receptors.
- Alternative Splicing in Human Colorectal Cancer
- Application of PepFect peptides for the delivery of splice-correcting oligonucleotides.
- Specificity of antisense oligonucleotide derivatives and cellular delivery by cell-penetrating peptides
- Progress toward therapy with antisense-mediated splicing modulation
- Identification and Functional Analysis of Alternatively Spliced Isoforms of Soluble Adenylyl Cyclase in Human Bronchial Epithelial Cells
- Altered splicing in prelamin A-associated premature aging phenotypes.
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