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Results: 1 to 20 of 106

1.

Pre-mRNA splicing in disease and therapeutics.

Singh RK, Cooper TA.

Trends Mol Med. 2012 Aug;18(8):472-82. doi: 10.1016/j.molmed.2012.06.006. Epub 2012 Jul 18. Review.

PMID:
22819011
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.

Tanackovic G, Ransijn A, Thibault P, Abou Elela S, Klinck R, Berson EL, Chabot B, Rivolta C.

Hum Mol Genet. 2011 Jun 1;20(11):2116-30. doi: 10.1093/hmg/ddr094. Epub 2011 Mar 5.

PMID:
21378395
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.

Mordes D, Yuan L, Xu L, Kawada M, Molday RS, Wu JY.

Neurobiol Dis. 2007 May;26(2):291-300. Epub 2007 Mar 9.

PMID:
17350276
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Genetic medicine at the RNA level: modifications of the genetic repertoire for therapeutic purposes by pre-mRNA trans-splicing.

Pergolizzi RG, Crystal RG.

C R Biol. 2004 Aug;327(8):695-709. Review.

PMID:
15506518
[PubMed - indexed for MEDLINE]
5.

Composition and functional characterization of the yeast spliceosomal penta-snRNP.

Stevens SW, Ryan DE, Ge HY, Moore RE, Young MK, Lee TD, Abelson J.

Mol Cell. 2002 Jan;9(1):31-44.

PMID:
11804584
[PubMed - indexed for MEDLINE]
Free Article
6.

Correction of tau mis-splicing caused by FTDP-17 MAPT mutations by spliceosome-mediated RNA trans-splicing.

Rodriguez-Martin T, Anthony K, Garcia-Blanco MA, Mansfield SG, Anderton BH, Gallo JM.

Hum Mol Genet. 2009 Sep 1;18(17):3266-73. doi: 10.1093/hmg/ddp264. Epub 2009 Jun 4.

PMID:
19498037
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Pre-mRNA splicing in the new millennium.

Hastings ML, Krainer AR.

Curr Opin Cell Biol. 2001 Jun;13(3):302-9. Review.

PMID:
11343900
[PubMed - indexed for MEDLINE]
8.

New connections between splicing and human disease.

Padgett RA.

Trends Genet. 2012 Apr;28(4):147-54. doi: 10.1016/j.tig.2012.01.001. Epub 2012 Mar 5. Review.

PMID:
22397991
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Genome-wide prediction of cis-acting RNA elements regulating tissue-specific pre-mRNA alternative splicing.

Wang X, Wang K, Radovich M, Wang Y, Wang G, Feng W, Sanford JR, Liu Y.

BMC Genomics. 2009 Jul 7;10 Suppl 1:S4. doi: 10.1186/1471-2164-10-S1-S4.

PMID:
19594881
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa.

Gamundi MJ, Hernan I, Muntanyola M, Maseras M, López-Romero P, Alvarez R, Dopazo A, Borrego S, Carballo M.

Hum Mutat. 2008 Jun;29(6):869-78. doi: 10.1002/humu.20747.

PMID:
18412284
[PubMed - indexed for MEDLINE]
11.

In Brief: (mis)splicing in disease.

Pedrotti S, Cooper TA.

J Pathol. 2014 May;233(1):1-3. doi: 10.1002/path.4337.

PMID:
24615176
[PubMed - indexed for MEDLINE]
12.

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.

Martínez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, Millá E, Ayuso C, García-Sandoval B, Beneyto M, Vilela C, Baiget M, Antiñolo G, Carballo M.

Invest Ophthalmol Vis Sci. 2003 May;44(5):2171-7.

PMID:
12714658
[PubMed - indexed for MEDLINE]
Free Article
13.

Splicing of precursors to mRNA in higher plants: mechanism, regulation and sub-nuclear organisation of the spliceosomal machinery.

Simpson GG, Filipowicz W.

Plant Mol Biol. 1996 Oct;32(1-2):1-41. Review.

PMID:
8980472
[PubMed - indexed for MEDLINE]
14.

Six novel genes necessary for pre-mRNA splicing in Saccharomyces cerevisiae.

Maddock JR, Roy J, Woolford JL Jr.

Nucleic Acids Res. 1996 Mar 15;24(6):1037-44.

PMID:
8604335
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Repair of CFTR mRNA by spliceosome-mediated RNA trans-splicing.

Mansfield SG, Kole J, Puttaraju M, Yang CC, Garcia-Blanco MA, Cohn JA, Mitchell LG.

Gene Ther. 2000 Nov;7(22):1885-95.

PMID:
11127576
[PubMed - indexed for MEDLINE]
Free Article
16.

Nuclear organization of pre-mRNA splicing factors.

Sleeman JE, Lamond AI.

Curr Opin Cell Biol. 1999 Jun;11(3):372-7. Review.

PMID:
10395556
[PubMed - indexed for MEDLINE]
17.

Multiple links between transcription and splicing.

Kornblihtt AR, de la Mata M, Fededa JP, Munoz MJ, Nogues G.

RNA. 2004 Oct;10(10):1489-98. Review.

PMID:
15383674
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Saccharomyces cerevisiae NineTeen complex (NTC)-associated factor Bud31/Ycr063w assembles on precatalytic spliceosomes and improves first and second step pre-mRNA splicing efficiency.

Saha D, Khandelia P, O'Keefe RT, Vijayraghavan U.

J Biol Chem. 2012 Feb 17;287(8):5390-9. doi: 10.1074/jbc.M111.298547. Epub 2012 Jan 3.

PMID:
22215661
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

RNA splicing: disease and therapy.

Douglas AG, Wood MJ.

Brief Funct Genomics. 2011 May;10(3):151-64. doi: 10.1093/bfgp/elr020. Review.

PMID:
21628314
[PubMed - indexed for MEDLINE]
20.

trans-splicing to spliceosomal U2 snRNA suggests disruption of branch site-U2 pairing during pre-mRNA splicing.

Smith DJ, Query CC, Konarska MM.

Mol Cell. 2007 Jun 22;26(6):883-90.

PMID:
17588521
[PubMed - indexed for MEDLINE]
Free PMC Article

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