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Journal Abstract Search

1007 related items for PubMed ID: 17311297

  • 1. 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. PubMed ID: 17311297
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  • 2. A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.
    Fang LJ, Simard MJ, Vidaud D, Assouline B, Lemieux B, Vidaud M, Chabot B, Thirion JP.
    J Mol Biol; 2001 Apr 13; 307(5):1261-70. PubMed ID: 11292340
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  • 3. Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization.
    Raponi M, Upadhyaya M, Baralle D.
    Hum Mutat; 2006 Mar 13; 27(3):294-5. PubMed ID: 16470740
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  • 4. Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1.
    Jang MA, Kim YE, Kim SK, Lee MK, Kim JW, Ki CS.
    J Hum Genet; 2016 Aug 13; 61(8):705-9. PubMed ID: 27074763
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  • 7. The effect of disease-associated HRPT2 mutations on splicing.
    Hahn MA, McDonnell J, Marsh DJ.
    J Endocrinol; 2009 Jun 13; 201(3):387-96. PubMed ID: 19332451
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  • 8. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations.
    Pros E, Fernández-Rodríguez J, Canet B, Benito L, Sánchez A, Benavides A, Ramos FJ, López-Ariztegui MA, Capellá G, Blanco I, Serra E, Lázaro C.
    Hum Mutat; 2009 Mar 13; 30(3):454-62. PubMed ID: 19241459
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  • 9. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
    Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD.
    Hum Mutat; 2000 Mar 13; 15(6):541-55. PubMed ID: 10862084
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  • 10. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y, Takeshima Y, Awano H, Okizuka Y, Zhang Z, Saiki K, Yagi M, Matsuo M.
    J Med Genet; 2009 Aug 13; 46(8):542-7. PubMed ID: 19001018
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  • 12. The emergence of alternative 3' and 5' splice site exons from constitutive exons.
    Koren E, Lev-Maor G, Ast G.
    PLoS Comput Biol; 2007 May 13; 3(5):e95. PubMed ID: 17530917
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  • 15. NF1 mutation rather than individual genetic variability is the main determinant of the NF1-transcriptional profile of mutations affecting splicing.
    Pros E, Larriba S, López E, Ravella A, Gili ML, Kruyer H, Valls J, Serra E, Lázaro C.
    Hum Mutat; 2006 Nov 13; 27(11):1104-14. PubMed ID: 16937374
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  • 16. A suboptimal 5' splice site downstream of HIV-1 splice site A1 is required for unspliced viral mRNA accumulation and efficient virus replication.
    Madsen JM, Stoltzfus CM.
    Retrovirology; 2006 Feb 03; 3():10. PubMed ID: 16457729
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  • 19. Global control of aberrant splice-site activation by auxiliary splicing sequences: evidence for a gradient in exon and intron definition.
    Královicová J, Vorechovsky I.
    Nucleic Acids Res; 2007 Feb 03; 35(19):6399-413. PubMed ID: 17881373
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