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Journal Abstract Search

322 related items for PubMed ID: 21309043

  • 21. Correction of disease-associated exon skipping by synthetic exon-specific activators.
    Cartegni L, Krainer AR.
    Nat Struct Biol; 2003 Feb; 10(2):120-5. PubMed ID: 12524529
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  • 22. 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. PubMed ID: 15241793
    [Abstract] [Full Text] [Related]

  • 23. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
    Shiga N, Takeshima Y, Sakamoto H, Inoue K, Yokota Y, Yokoyama M, Matsuo M.
    J Clin Invest; 1997 Nov 01; 100(9):2204-10. PubMed ID: 9410897
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  • 24. 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 01; 49(10):609-17. PubMed ID: 22962691
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  • 28. Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant.
    Goina E, Skoko N, Pagani F.
    Mol Cell Biol; 2008 Jun 01; 28(11):3850-60. PubMed ID: 18391021
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  • 29. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.
    Chen X, Truong TT, Weaver J, Bove BA, Cattie K, Armstrong BA, Daly MB, Godwin AK.
    Hum Mutat; 2006 May 01; 27(5):427-35. PubMed ID: 16619214
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  • 30. Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.
    Yamada K, Fukao T, Zhang G, Sakurai S, Ruiter JP, Wanders RJ, Kondo N.
    Mol Genet Metab; 2007 Mar 01; 90(3):291-7. PubMed ID: 17169596
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  • 31. Exon skipping through the creation of a putative exonic splicing silencer as a consequence of the cystic fibrosis mutation R553X.
    Aznarez I, Zielenski J, Rommens JM, Blencowe BJ, Tsui LC.
    J Med Genet; 2007 May 01; 44(5):341-6. PubMed ID: 17475917
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  • 32. A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
    Sanz DJ, Acedo A, Infante M, Durán M, Pérez-Cabornero L, Esteban-Cardeñosa E, Lastra E, Pagani F, Miner C, Velasco EA.
    Clin Cancer Res; 2010 Mar 15; 16(6):1957-67. PubMed ID: 20215541
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  • 34. Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes.
    Le Guédard-Méreuze S, Vaché C, Baux D, Faugère V, Larrieu L, Abadie C, Janecke A, Claustres M, Roux AF, Tuffery-Giraud S.
    Hum Mutat; 2010 Mar 15; 31(3):347-55. PubMed ID: 20052763
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  • 35. SR proteins and hnRNP H regulate the splicing of the HIV-1 tev-specific exon 6D.
    Caputi M, Zahler AM.
    EMBO J; 2002 Feb 15; 21(4):845-55. PubMed ID: 11847131
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  • 37. 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 15; 93(3):323-30. PubMed ID: 18023225
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  • 38. Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system.
    Gonzalez-Paredes FJ, Ramos-Trujillo E, Claverie-Martin F.
    Gene; 2016 Mar 01; 578(1):117-23. PubMed ID: 26692149
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  • 39. A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene.
    Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N.
    Mol Genet Metab; 2010 Aug 01; 100(4):339-44. PubMed ID: 20488739
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  • 40. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
    Fraile-Bethencourt E, Díez-Gómez B, Velásquez-Zapata V, Acedo A, Sanz DJ, Velasco EA.
    PLoS Genet; 2017 Mar 01; 13(3):e1006691. PubMed ID: 28339459
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