BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

427 related articles for article (PubMed ID: 28475858)

  • 1. Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.
    Lee M; Roos P; Sharma N; Atalar M; Evans TA; Pellicore MJ; Davis E; Lam AN; Stanley SE; Khalil SE; Solomon GM; Walker D; Raraigh KS; Vecchio-Pagan B; Armanios M; Cutting GR
    Am J Hum Genet; 2017 May; 100(5):751-765. PubMed ID: 28475858
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
    Aznarez I; Chan EM; Zielenski J; Blencowe BJ; Tsui LC
    Hum Mol Genet; 2003 Aug; 12(16):2031-40. PubMed ID: 12913074
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.
    Costantino L; Rusconi D; Soldà G; Seia M; Paracchini V; Porcaro L; Asselta R; Colombo C; Duga S
    Am J Respir Cell Mol Biol; 2013 May; 48(5):619-25. PubMed ID: 23349053
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.
    Joynt AT; Evans TA; Pellicore MJ; Davis-Marcisak EF; Aksit MA; Eastman AC; Patel SU; Paul KC; Osorio DL; Bowling AD; Cotton CU; Raraigh KS; West NE; Merlo CA; Cutting GR; Sharma N
    PLoS Genet; 2020 Oct; 16(10):e1009100. PubMed ID: 33085659
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterization of a disease-associated mutation affecting a putative splicing regulatory element in intron 6b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
    Faà V; Incani F; Meloni A; Corda D; Masala M; Baffico AM; Seia M; Cao A; Rosatelli MC
    J Biol Chem; 2009 Oct; 284(44):30024-31. PubMed ID: 19759008
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
    Giorgi G; Casarin A; Trevisson E; Donà M; Cassina M; Graziano C; Picci L; Clementi M; Salviati L
    Clin Chem Lab Med; 2015 Oct; 53(11):1719-23. PubMed ID: 25781545
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention.
    Molinski SV; Gonska T; Huan LJ; Baskin B; Janahi IA; Ray PN; Bear CE
    Genet Med; 2014 Aug; 16(8):625-32. PubMed ID: 24556927
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies.
    Cormier MJ; Pedersen BS; Bayrak-Toydemir P; Quinlan AR
    BMC Bioinformatics; 2022 Nov; 23(1):482. PubMed ID: 36376793
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional studies on the ATM intronic splicing processing element.
    Lewandowska MA; Stuani C; Parvizpur A; Baralle FE; Pagani F
    Nucleic Acids Res; 2005; 33(13):4007-15. PubMed ID: 16030351
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events.
    Buratti E; Dhir A; Lewandowska MA; Baralle FE
    Nucleic Acids Res; 2007; 35(13):4369-83. PubMed ID: 17580311
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element.
    Pagani F; Buratti E; Stuani C; Romano M; Zuccato E; Niksic M; Giglio L; Faraguna D; Baralle FE
    J Biol Chem; 2000 Jul; 275(28):21041-7. PubMed ID: 10766763
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.
    Groeneweg JA; Ummels A; Mulder M; Bikker H; van der Smagt JJ; van Mil AM; Homfray T; Post JG; Elvan A; van der Heijden JF; Houweling AC; Jongbloed JD; Wilde AA; van Tintelen JP; Hauer RN; Dooijes D
    Heart Rhythm; 2014 Nov; 11(11):2010-7. PubMed ID: 25087486
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene.
    Bergougnoux A; Délétang K; Pommier A; Varilh J; Houriez F; Altieri JP; Koenig M; Férec C; Claustres M; Lalau G; Bienvenu T; Audrézet MP; Pagin A; Girodon E; Raynal C; Taulan-Cadars M
    J Cyst Fibros; 2019 Jul; 18(4):468-475. PubMed ID: 30389601
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
    Danis D; Jacobsen JOB; Carmody LC; Gargano MA; McMurry JA; Hegde A; Haendel MA; Valentini G; Smedley D; Robinson PN
    Am J Hum Genet; 2021 Sep; 108(9):1564-1577. PubMed ID: 34289339
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients.
    Costantino L; Claut L; Paracchini V; Coviello DA; Colombo C; Porcaro L; Capasso P; Zanardelli M; Pizzamiglio G; Degiorgio D; Seia M
    J Cyst Fibros; 2010 Dec; 9(6):411-8. PubMed ID: 20875776
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.
    Igreja S; Clarke LA; Botelho HM; Marques L; Amaral MD
    Hum Mutat; 2016 Feb; 37(2):209-15. PubMed ID: 26553470
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.
    Hiraide T; Shimizu K; Okumura Y; Miyamoto S; Nakashima M; Ogata T; Saitsu H
    J Hum Genet; 2023 Jul; 68(7):499-505. PubMed ID: 36894704
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools.
    Soukarieh O; Gaildrat P; Hamieh M; Drouet A; Baert-Desurmont S; Frébourg T; Tosi M; Martins A
    PLoS Genet; 2016 Jan; 12(1):e1005756. PubMed ID: 26761715
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.