BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

197 related articles for article (PubMed ID: 31843900)

  • 1. Characterization of splice-altering mutations in inherited predisposition to cancer.
    Casadei S; Gulsuner S; Shirts BH; Mandell JB; Kortbawi HM; Norquist BS; Swisher EM; Lee MK; Goldberg Y; O'Connor R; Tan Z; Pritchard CC; King MC; Walsh T
    Proc Natl Acad Sci U S A; 2019 Dec; 116(52):26798-26807. PubMed ID: 31843900
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genomic features defining exonic variants that modulate splicing.
    Woolfe A; Mullikin JC; Elnitski L
    Genome Biol; 2010; 11(2):R20. PubMed ID: 20158892
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Splicing mutations in inherited retinal diseases.
    Weisschuh N; Buena-Atienza E; Wissinger B
    Prog Retin Eye Res; 2021 Jan; 80():100874. PubMed ID: 32553897
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum.
    O'Neill JP; Rogan PK; Cariello N; Nicklas JA
    Mutat Res; 1998 Nov; 411(3):179-214. PubMed ID: 9804951
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.
    Martínez-Pizarro A; Dembic M; Pérez B; Andresen BS; Desviat LR
    PLoS Genet; 2018 Apr; 14(4):e1007360. PubMed ID: 29684050
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries.
    Ohno K; Tsujino A; Shen XM; Milone M; Engel AG
    J Med Genet; 2005 Aug; 42(8):e53. PubMed ID: 16061559
    [TBL] [Abstract][Full Text] [Related]  

  • 10. X-linked Alport syndrome caused by splicing mutations in COL4A5.
    Nozu K; Vorechovsky I; Kaito H; Fu XJ; Nakanishi K; Hashimura Y; Hashimoto F; Kamei K; Ito S; Kaku Y; Imasawa T; Ushijima K; Shimizu J; Makita Y; Konomoto T; Yoshikawa N; Iijima K
    Clin J Am Soc Nephrol; 2014 Nov; 9(11):1958-64. PubMed ID: 25183659
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genomic analysis of inherited hearing loss in the Palestinian population.
    Abu Rayyan A; Kamal L; Casadei S; Brownstein Z; Zahdeh F; Shahin H; Canavati C; Dweik D; Jaraysa T; Rabie G; Carlson RJ; Gulsuner S; Lee MK; Avraham KB; Walsh T; King MC; Kanaan MN
    Proc Natl Acad Sci U S A; 2020 Aug; 117(33):20070-20076. PubMed ID: 32747562
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease.
    Fujimaru M; Tanaka A; Choeh K; Wakamatsu N; Sakuraba H; Isshiki G
    Hum Genet; 1998 Oct; 103(4):462-9. PubMed ID: 9856491
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Unannotated splicing regulatory elements in deep intron space.
    Conboy JG
    Wiley Interdiscip Rev RNA; 2021 Sep; 12(5):e1656. PubMed ID: 33887804
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
    Teraoka SN; Telatar M; Becker-Catania S; Liang T; Onengüt S; Tolun A; Chessa L; Sanal O; Bernatowska E; Gatti RA; Concannon P
    Am J Hum Genet; 1999 Jun; 64(6):1617-31. PubMed ID: 10330348
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.
    Bolognini R; Gerth-Kahlert C; Abegg M; Bartholdi D; Mathis N; Sturm V; Gallati S; Schaller A
    BMC Med Genet; 2017 Feb; 18(1):22. PubMed ID: 28245802
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 21750108
    [TBL] [Abstract][Full Text] [Related]  

  • 17. BAP1 missense mutation c.2054 A>T (p.E685V) completely disrupts normal splicing through creation of a novel 5' splice site in a human mesothelioma cell line.
    Morrison A; Chekaluk Y; Bacares R; Ladanyi M; Zhang L
    PLoS One; 2015; 10(4):e0119224. PubMed ID: 25830670
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations causing defective splicing in the human hprt gene.
    Andersson B; Hou SM; Lambert B
    Environ Mol Mutagen; 1992; 20(2):89-95. PubMed ID: 1380458
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.
    Celebi JT; Wanner M; Ping XL; Zhang H; Peacocke M
    Hum Genet; 2000 Sep; 107(3):234-8. PubMed ID: 11071384
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Splicing mutations in human genetic disorders: examples, detection, and confirmation.
    Anna A; Monika G
    J Appl Genet; 2018 Aug; 59(3):253-268. PubMed ID: 29680930
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.