Review
doi: 10.1101/gad.1048803.
Pre-mRNA splicing and human disease
Affiliations
- PMID: 12600935
- DOI: 10.1101/gad.1048803
Item in Clipboard
Review
Pre-mRNA splicing and human disease
Genes Dev.
.
Free article
No abstract available
Similar articles
-
[Aberrant mRNA splicing in human diseases].Tanpakushitsu Kakusan Koso. 2006 Nov;51(14 Suppl):2287-93. Tanpakushitsu Kakusan Koso. 2006. PMID: 17471954 Review. Japanese. No abstract available.
-
Nucleic Acid-Targeted Small Molecules have Therapeutic Potential in the Treatment of Spinal Muscular Atrophy: Small-molecule drugs that can selectively bind RNA and modulate pre-mRNA splicing have potential as a treatment strategy for human disease, including spinal muscular atrophy.Am J Med Genet A. 2018 Aug;176(8):1698-1699. doi: 10.1002/ajmg.a.40520. Am J Med Genet A. 2018. PMID: 30136439 No abstract available.
-
[Myotonic dystrophy: therapeutic approaches to RNA toxicity].Brain Nerve. 2011 Nov;63(11):1161-8. Brain Nerve. 2011. PMID: 22068468 Review. Japanese.
-
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7. doi: 10.1167/iovs.02-0871. Invest Ophthalmol Vis Sci. 2003. PMID: 12714658
-
RNA-binding proteins in human genetic disease.Trends Genet. 2008 Aug;24(8):416-25. doi: 10.1016/j.tig.2008.05.004. Epub 2008 Jul 1. Trends Genet. 2008. PMID: 18597886 Review.
Cited by
-
SpliceProt 2.0: A Sequence Repository of Human, Mouse, and Rat Proteoforms.Int J Mol Sci. 2024 Jan 18;25(2):1183. doi: 10.3390/ijms25021183. Int J Mol Sci. 2024. PMID: 38256255 Free PMC article.
-
Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.PLoS One. 2015 Jul 1;10(7):e0131376. doi: 10.1371/journal.pone.0131376. eCollection 2015. PLoS One. 2015. PMID: 26132292 Free PMC article.
-
SpliceDisease database: linking RNA splicing and disease.Nucleic Acids Res. 2012 Jan;40(Database issue):D1055-9. doi: 10.1093/nar/gkr1171. Epub 2011 Dec 1. Nucleic Acids Res. 2012. PMID: 22139928 Free PMC article.
-
GLiMMPS: robust statistical model for regulatory variation of alternative splicing using RNA-seq data.Genome Biol. 2013 Jul 22;14(7):R74. doi: 10.1186/gb-2013-14-7-r74. Genome Biol. 2013. PMID: 23876401 Free PMC article.
-
Transposable Elements: No More 'Junk DNA'.Genomics Inform. 2012 Dec;10(4):226-33. doi: 10.5808/GI.2012.10.4.226. Epub 2012 Dec 31. Genomics Inform. 2012. PMID: 23346034 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
