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Results: 1 to 20 of 196

1.

Genomic features defining exonic variants that modulate splicing.

Woolfe A, Mullikin JC, Elnitski L.

Genome Biol. 2010;11(2):R20. doi: 10.1186/gb-2010-11-2-r20. Epub 2010 Feb 16.

PMID:
20158892
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.

Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS.

Am J Hum Genet. 2007 Mar;80(3):416-32. Epub 2007 Jan 18. Erratum in: Am J Hum Genet. 2007 Apr;80(4):816.

PMID:
17273963
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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
[PubMed - indexed for MEDLINE]
4.

Silencer elements as possible inhibitors of pseudoexon splicing.

Sironi M, Menozzi G, Riva L, Cagliani R, Comi GP, Bresolin N, Giorda R, Pozzoli U.

Nucleic Acids Res. 2004 Mar 19;32(5):1783-91. Print 2004.

PMID:
15034146
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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
[PubMed - indexed for MEDLINE]
6.

Computational prediction of splicing regulatory elements shared by Tetrapoda organisms.

Churbanov A, Vorechovský I, Hicks C.

BMC Genomics. 2009 Nov 4;10:508. doi: 10.1186/1471-2164-10-508.

PMID:
19889216
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Computational analysis of splicing errors and mutations in human transcripts.

Kurmangaliyev YZ, Gelfand MS.

BMC Genomics. 2008 Jan 14;9:13. doi: 10.1186/1471-2164-9-13.

PMID:
18194514
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles.

Steiner B, Truninger K, Sanz J, Schaller A, Gallati S.

Hum Mutat. 2004 Aug;24(2):120-9.

PMID:
15241793
[PubMed - indexed for MEDLINE]
9.

Predictive identification of exonic splicing enhancers in human genes.

Fairbrother WG, Yeh RF, Sharp PA, Burge CB.

Science. 2002 Aug 9;297(5583):1007-13. Epub 2002 Jul 11.

PMID:
12114529
[PubMed - indexed for MEDLINE]
Free Article
10.

Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.

Pettigrew C, Wayte N, Lovelock PK, Tavtigian SV, Chenevix-Trench G, Spurdle AB, Brown MA.

Breast Cancer Res. 2005;7(6):R929-39. Epub 2005 Sep 22.

PMID:
16280041
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer.

Boichard A, Venet L, Naas T, Boutron A, Chevret L, de Baulny HO, De Lonlay P, Legrand A, Nordman P, Brivet M.

Mol Genet Metab. 2008 Mar;93(3):323-30. Epub 2007 Nov 26.

PMID:
18023225
[PubMed - indexed for MEDLINE]
12.

Interplay between exonic splicing enhancers, mRNA processing, and mRNA surveillance in the dystrophic Mdx mouse.

Buvoli M, Buvoli A, Leinwand LA.

PLoS One. 2007 May 9;2(5):e427.

PMID:
17487273
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

An exonic splicing enhancer offsets the atypical GU-rich 3' splice site of human apolipoprotein A-II exon 3.

Arrisi-Mercado P, Romano M, Muro AF, Baralle FE.

J Biol Chem. 2004 Sep 17;279(38):39331-9. Epub 2004 Jul 7.

PMID:
15247216
[PubMed - indexed for MEDLINE]
Free Article
14.

Compensatory relationship between splice sites and exonic splicing signals depending on the length of vertebrate introns.

Dewey CN, Rogozin IB, Koonin EV.

BMC Genomics. 2006 Dec 8;7:311.

PMID:
17156453
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
18456862
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Identification of a splicing enhancer in MLH1 using COMPARE, a new assay for determination of relative RNA splicing efficiencies.

Xu DQ, Mattox W.

Hum Mol Genet. 2006 Jan 15;15(2):329-36. Epub 2005 Dec 15.

PMID:
16357104
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Splicing of a myosin phosphatase targeting subunit 1 alternative exon is regulated by intronic cis-elements and a novel bipartite exonic enhancer/silencer element.

Dirksen WP, Mohamed SA, Fisher SA.

J Biol Chem. 2003 Mar 14;278(11):9722-32. Epub 2002 Dec 30.

PMID:
12509424
[PubMed - indexed for MEDLINE]
Free Article
18.

Searching for splicing motifs.

Chasin LA.

Adv Exp Med Biol. 2007;623:85-106. Review.

PMID:
18380342
[PubMed - indexed for MEDLINE]
20.

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

Raponi M, Kralovicova J, Copson E, Divina P, Eccles D, Johnson P, Baralle D, Vorechovsky I.

Hum Mutat. 2011 Apr;32(4):436-44. doi: 10.1002/humu.21458. Epub 2011 Mar 8.

PMID:
21309043
[PubMed - indexed for MEDLINE]
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