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Items: 1 to 20 of 104

1.

Context-dependent robustness to 5' splice site polymorphisms in human populations.

Lu ZX, Jiang P, Cai JJ, Xing Y.

Hum Mol Genet. 2011 Mar 15;20(6):1084-96. doi: 10.1093/hmg/ddq553. Epub 2010 Dec 28.

2.

A systematic analysis of intronic sequences downstream of 5' splice sites reveals a widespread role for U-rich motifs and TIA1/TIAL1 proteins in alternative splicing regulation.

Aznarez I, Barash Y, Shai O, He D, Zielenski J, Tsui LC, Parkinson J, Frey BJ, Rommens JM, Blencowe BJ.

Genome Res. 2008 Aug;18(8):1247-58. doi: 10.1101/gr.073155.107. Epub 2008 May 2.

3.

Determinants of the Usage of Splice-Associated cis-Motifs Predict the Distribution of Human Pathogenic SNPs.

Wu X, Hurst LD.

Mol Biol Evol. 2016 Feb;33(2):518-29. doi: 10.1093/molbev/msv251. Epub 2015 Nov 5.

4.

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN.

Hum Mutat. 2007 Feb;28(2):150-8.

PMID:
17001642
5.

Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.

Gaildrat P, Krieger S, Di Giacomo D, Abdat J, Révillion F, Caputo S, Vaur D, Jamard E, Bohers E, Ledemeney D, Peyrat JP, Houdayer C, Rouleau E, Lidereau R, Frébourg T, Hardouin A, Tosi M, Martins A.

J Med Genet. 2012 Oct;49(10):609-17. doi: 10.1136/jmedgenet-2012-100965. Epub 2012 Sep 7.

PMID:
22962691
6.

Multiple splicing defects in an intronic false exon.

Sun H, Chasin LA.

Mol Cell Biol. 2000 Sep;20(17):6414-25.

7.

Wobble splicing reveals the role of the branch point sequence-to-NAGNAG region in 3' tandem splice site selection.

Tsai KW, Tarn WY, Lin WC.

Mol Cell Biol. 2007 Aug;27(16):5835-48. Epub 2007 Jun 11.

8.

A DNA damage signal activates and derepresses exon inclusion in Drosophila TAF1 alternative splicing.

Marengo MS, Wassarman DA.

RNA. 2008 Aug;14(8):1681-95. doi: 10.1261/rna.1048808. Epub 2008 Jul 2.

9.

Discover hidden splicing variations by mapping personal transcriptomes to personal genomes.

Stein S, Lu ZX, Bahrami-Samani E, Park JW, Xing Y.

Nucleic Acids Res. 2015 Dec 15;43(22):10612-22. doi: 10.1093/nar/gkv1099. Epub 2015 Nov 17.

10.

Genome-wide survey of allele-specific splicing in humans.

Nembaware V, Lupindo B, Schouest K, Spillane C, Scheffler K, Seoighe C.

BMC Genomics. 2008 Jun 2;9:265. doi: 10.1186/1471-2164-9-265.

11.

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

Wimmer K, Roca X, Beiglböck H, Callens T, Etzler J, Rao AR, Krainer AR, Fonatsch C, Messiaen L.

Hum Mutat. 2007 Jun;28(6):599-612.

PMID:
17311297
12.

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Möslein G, Schulmann K, Propping P, Friedl W.

Hum Mutat. 2004 Nov;24(5):370-80.

PMID:
15459959
13.

Loss of exon identity is a common mechanism of human inherited disease.

Sterne-Weiler T, Howard J, Mort M, Cooper DN, Sanford JR.

Genome Res. 2011 Oct;21(10):1563-71. doi: 10.1101/gr.118638.110. Epub 2011 Jul 12.

14.

Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.

Fichou Y, Gehannin P, Corre M, Le Guern A, Le Maréchal C, Le Gac G, Férec C.

Transfusion. 2015 Jun;55(6 Pt 2):1432-43. doi: 10.1111/trf.13083. Epub 2015 Mar 21.

PMID:
25808592
15.

SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs.

ElSharawy A, Manaster C, Teuber M, Rosenstiel P, Kwiatkowski R, Huse K, Platzer M, Becker A, Nürnberg P, Schreiber S, Hampe J.

Hum Mutat. 2006 Nov;27(11):1129-34.

PMID:
16937379
16.

Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease.

Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.

Gene. 2014 Aug 10;546(2):243-9. doi: 10.1016/j.gene.2014.06.004. Epub 2014 Jun 4.

PMID:
24907393
17.
18.

Functional implications of splicing polymorphisms in the human genome.

Kurmangaliyev YZ, Sutormin RA, Naumenko SA, Bazykin GA, Gelfand MS.

Hum Mol Genet. 2013 Sep 1;22(17):3449-59. doi: 10.1093/hmg/ddt200. Epub 2013 May 2.

PMID:
23640990
19.

Competing upstream 5' splice sites enhance the rate of proximal splicing.

Hicks MJ, Mueller WF, Shepard PJ, Hertel KJ.

Mol Cell Biol. 2010 Apr;30(8):1878-86. doi: 10.1128/MCB.01071-09. Epub 2010 Feb 1.

20.

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping.

Hefferon TW, Broackes-Carter FC, Harris A, Cutting GR.

Am J Hum Genet. 2002 Aug;71(2):294-303. Epub 2002 Jun 13.

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