BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

451 related articles for article (PubMed ID: 18194514)

  • 1. Computational analysis of splicing errors and mutations in human transcripts.
    Kurmangaliyev YZ; Gelfand MS
    BMC Genomics; 2008 Jan; 9():13. PubMed ID: 18194514
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 35(19):6399-413. PubMed ID: 17881373
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 7():311. PubMed ID: 17156453
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.
    Takahara K; Schwarze U; Imamura Y; Hoffman GG; Toriello H; Smith LT; Byers PH; Greenspan DS
    Am J Hum Genet; 2002 Sep; 71(3):451-65. PubMed ID: 12145749
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Splicing of constitutive upstream introns is essential for the recognition of intra-exonic suboptimal splice sites in the thrombopoietin gene.
    Romano M; Marcucci R; Baralle FE
    Nucleic Acids Res; 2001 Feb; 29(4):886-94. PubMed ID: 11160920
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Vulnerable exons, like ACADM exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers.
    Holm LL; Doktor TK; Hansen MB; Petersen USS; Andresen BS
    Hum Mutat; 2022 Feb; 43(2):253-265. PubMed ID: 34923709
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Why Selection Might Be Stronger When Populations Are Small: Intron Size and Density Predict within and between-Species Usage of Exonic Splice Associated cis-Motifs.
    Wu X; Hurst LD
    Mol Biol Evol; 2015 Jul; 32(7):1847-61. PubMed ID: 25771198
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mathematical modeling identifies potential gene structure determinants of co-transcriptional control of alternative pre-mRNA splicing.
    Davis-Turak J; Johnson TL; Hoffmann A
    Nucleic Acids Res; 2018 Nov; 46(20):10598-10607. PubMed ID: 30272246
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Differential GC content between exons and introns establishes distinct strategies of splice-site recognition.
    Amit M; Donyo M; Hollander D; Goren A; Kim E; Gelfman S; Lev-Maor G; Burstein D; Schwartz S; Postolsky B; Pupko T; Ast G
    Cell Rep; 2012 May; 1(5):543-56. PubMed ID: 22832277
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 17001642
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS.
    Niba ETE; Nishida A; Tran VK; Vu DC; Matsumoto M; Awano H; Lee T; Takeshima Y; Nishio H; Matsuo M
    J Hum Genet; 2017 Apr; 62(5):531-537. PubMed ID: 28100912
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions.
    Thanaraj TA; Clark F
    Nucleic Acids Res; 2001 Jun; 29(12):2581-93. PubMed ID: 11410667
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping.
    Divina P; Kvitkovicova A; Buratti E; Vorechovsky I
    Eur J Hum Genet; 2009 Jun; 17(6):759-65. PubMed ID: 19142208
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Transposable elements in disease-associated cryptic exons.
    Vorechovsky I
    Hum Genet; 2010 Feb; 127(2):135-54. PubMed ID: 19823873
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.
    Schwarze U; Starman BJ; Byers PH
    Am J Hum Genet; 1999 Aug; 65(2):336-44. PubMed ID: 10417276
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Background splicing as a predictor of aberrant splicing in genetic disease.
    D A; Y L; R S; H D; E B; Rm W; I V; L C; N J D
    RNA Biol; 2022; 19(1):256-265. PubMed ID: 35188075
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Impact of alternative initiation, splicing, and termination on the diversity of the mRNA transcripts encoded by the mouse transcriptome.
    Zavolan M; Kondo S; Schonbach C; Adachi J; Hume DA; Hayashizaki Y; Gaasterland T; ;
    Genome Res; 2003 Jun; 13(6B):1290-300. PubMed ID: 12819126
    [TBL] [Abstract][Full Text] [Related]  

  • 19. MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
    Mort M; Sterne-Weiler T; Li B; Ball EV; Cooper DN; Radivojac P; Sanford JR; Mooney SD
    Genome Biol; 2014 Jan; 15(1):R19. PubMed ID: 24451234
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Transcriptome-Wide Detection of Intron/Exon Definition in the Endogenous Pre-mRNA Transcripts of Mammalian Cells and Its Regulation by Depolarization.
    Liu L; Das U; Ogunsola S; Xie J
    Int J Mol Sci; 2022 Sep; 23(17):. PubMed ID: 36077555
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.