BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

256 related articles for article (PubMed ID: 32553897)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Clinical Characteristics of
    Weisschuh N; Mazzola P; Bertrand M; Haack TB; Wissinger B; Kohl S; Stingl K
    Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34065499
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. All reported non-canonical splice site variants in GLA cause aberrant splicing.
    Okada E; Horinouchi T; Yamamura T; Aoto Y; Suzuki R; Ichikawa Y; Tanaka Y; Masuda C; Kitakado H; Kondo A; Sakakibara N; Ishiko S; Nagano C; Ishimori S; Usui J; Yamagata K; Matsuo M; Nozu K
    Clin Exp Nephrol; 2023 Sep; 27(9):737-746. PubMed ID: 37254000
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comprehensive characterisation of intronic mis-splicing mutations in human cancers.
    Jung H; Lee KS; Choi JK
    Oncogene; 2021 Feb; 40(7):1347-1361. PubMed ID: 33420369
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. The missing puzzle piece: splicing mutations.
    Lewandowska MA
    Int J Clin Exp Pathol; 2013; 6(12):2675-82. PubMed ID: 24294354
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Pseudoexon activation in disease by non-splice site deep intronic sequence variation - wild type pseudoexons constitute high-risk sites in the human genome.
    Petersen USS; Doktor TK; Andresen BS
    Hum Mutat; 2022 Feb; 43(2):103-127. PubMed ID: 34837434
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exonic Variants that Affect Splicing - An Opportunity for "Hidden" Mutations Causing Inherited Retinal Diseases.
    Sundaresan Y; Banin E; Sharon D
    Adv Exp Med Biol; 2023; 1415():183-187. PubMed ID: 37440032
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An intronic mutation in Chd7 creates a cryptic splice site, causing aberrant splicing in a mouse model of CHARGE syndrome.
    Ogier JM; Arhatari BD; Carpinelli MR; McColl BK; Wilson MA; Burt RA
    Sci Rep; 2018 Apr; 8(1):5482. PubMed ID: 29615807
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences.
    Mayer K; Ballhausen W; Leistner W; Rott H
    Biochim Biophys Acta; 2000 Nov; 1502(3):495-507. PubMed ID: 11068191
    [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. AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.
    Wimmer K; Schamschula E; Wernstedt A; Traunfellner P; Amberger A; Zschocke J; Kroisel P; Chen Y; Callens T; Messiaen L
    Hum Mutat; 2020 Jun; 41(6):1145-1156. PubMed ID: 32126153
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria.
    Homolova K; Zavadakova P; Doktor TK; Schroeder LD; Kozich V; Andresen BS
    Hum Mutat; 2010 Apr; 31(4):437-44. PubMed ID: 20120036
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
    Keegan NP; Wilton SD; Fletcher S
    Front Genet; 2021; 12():806946. PubMed ID: 35140743
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.