BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 35806449)

  • 1. Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes.
    Dragoš VŠ; Strojnik K; Klančar G; Škerl P; Stegel V; Blatnik A; Banjac M; Krajc M; Novaković S
    Int J Mol Sci; 2022 Jul; 23(13):. PubMed ID: 35806449
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
    Fraile-Bethencourt E; Díez-Gómez B; Velásquez-Zapata V; Acedo A; Sanz DJ; Velasco EA
    PLoS Genet; 2017 Mar; 13(3):e1006691. PubMed ID: 28339459
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.
    Coll M; Fernandez-Falgueras A; Iglesias A; Del Olmo B; Nogue-Navarro L; Simon A; Perez Serra A; Puigmule M; Lopez L; Pico F; Corona M; Vallverdu-Prats M; Tiron C; Campuzano O; Castella J; Brugada R; Alcalde M
    Int J Mol Sci; 2022 Oct; 23(20):. PubMed ID: 36293497
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
    Wappenschmidt B; Becker AA; Hauke J; Weber U; Engert S; Köhler J; Kast K; Arnold N; Rhiem K; Hahnen E; Meindl A; Schmutzler RK
    PLoS One; 2012; 7(12):e50800. PubMed ID: 23239986
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing.
    Zhang X; Chen X; Chen J; Ma Y; Huang S; Cai M; Wang L; Yi L
    J Hum Genet; 2022 Aug; 67(8):495-501. PubMed ID: 35428841
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. Screening of
    Montalban G; Bonache S; Moles-Fernández A; Gisbert-Beamud A; Tenés A; Bach V; Carrasco E; López-Fernández A; Stjepanovic N; Balmaña J; Diez O; Gutiérrez-Enríquez S
    J Med Genet; 2019 Feb; 56(2):63-74. PubMed ID: 30472649
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical Utility of Functional RNA Analysis for the Reclassification of Splicing Gene Variants in Hereditary Cancer.
    Agiannitopoulos K; Pepe G; Papadopoulou E; Tsaousis GN; Kampouri S; Maravelaki S; Fassas A; Christodoulou C; Iosifidou R; Karageorgopoulou S; Markopoulos C; Natsiopoulos I; Papazisis K; Vasilaki-Antonatou M; Venizelos V; Ozmen V; Tansan S; Kaban K; Eniu DT; Chiorean A; Nasioulas G
    Cancer Genomics Proteomics; 2021; 18(3):285-294. PubMed ID: 33893081
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
    Fraile-Bethencourt E; Valenzuela-Palomo A; Díez-Gómez B; Goina E; Acedo A; Buratti E; Velasco EA
    J Pathol; 2019 Aug; 248(4):409-420. PubMed ID: 30883759
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing.
    Piñero TA; Soukarieh O; Rolain M; Alvarez K; López-Köstner F; Torrezan GT; Carraro DM; De Oliveira Nascimento IL; Bomfim TF; Machado-Lopes TMB; Freitas JC; Toralles MB; Sandes KA; Rossi BM; Junior SA; Meira J; Dominguez-Valentin M; Møller P; Vaccaro CA; Martins A; Pavicic WH
    Fam Cancer; 2020 Oct; 19(4):323-336. PubMed ID: 32363481
    [TBL] [Abstract][Full Text] [Related]  

  • 13. SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.
    Alimohamed MZ; Boven LG; van Dijk KK; Vos YJ; Hoedemaekers YM; van der Zwaag PA; Sijmons RH; Jongbloed JDH; Sikkema-Raddatz B; Westers H
    Gene; 2023 Jan; 851():146984. PubMed ID: 36270459
    [TBL] [Abstract][Full Text] [Related]  

  • 14. In silico prioritization and further functional characterization of SPINK1 intronic variants.
    Zou WB; Wu H; Boulling A; Cooper DN; Li ZS; Liao Z; Chen JM; Férec C
    Hum Genomics; 2017 May; 11(1):7. PubMed ID: 28472998
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
    Moles-Fernández A; Domènech-Vivó J; Tenés A; Balmaña J; Diez O; Gutiérrez-Enríquez S
    Cancers (Basel); 2021 Jul; 13(13):. PubMed ID: 34283047
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants.
    Valenzuela-Palomo A; Bueno-Martínez E; Sanoguera-Miralles L; Lorca V; Fraile-Bethencourt E; Esteban-Sánchez A; Gómez-Barrero S; Carvalho S; Allen J; García-Álvarez A; Pérez-Segura P; Dorling L; Easton DF; Devilee P; Vreeswijk MP; de la Hoya M; Velasco EA
    J Pathol; 2022 Mar; 256(3):321-334. PubMed ID: 34846068
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Splicing analysis of 24 potential spliceogenic variants in MMR genes and clinical interpretation based on refined ACMG/AMP criteria.
    Bouras A; Lefol C; Ruano E; Grand-Masson C; Auclair-Perrossier J; Wang Q
    Hum Mol Genet; 2024 May; 33(10):850-859. PubMed ID: 38311346
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
    Zhang P; Chaldebas M; Ogishi M; Al Qureshah F; Ponsin K; Feng Y; Rinchai D; Milisavljevic B; Han JE; Moncada-Vélez M; Keles S; Schröder B; Stenson PD; Cooper DN; Cobat A; Boisson B; Zhang Q; Boisson-Dupuis S; Abel L; Casanova JL
    Proc Natl Acad Sci U S A; 2023 Nov; 120(46):e2314225120. PubMed ID: 37931111
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
    Quiles F; Menéndez M; Tornero E; del Valle J; Teulé À; Palanca S; Izquierdo A; Gómez C; Campos O; Santamaria R; Brunet J; Capellá G; Feliubadaló L; Lázaro C
    Breast Cancer Res Treat; 2016 Jan; 155(2):253-60. PubMed ID: 26780556
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
    Moles-Fernández A; Duran-Lozano L; Montalban G; Bonache S; López-Perolio I; Menéndez M; Santamariña M; Behar R; Blanco A; Carrasco E; López-Fernández A; Stjepanovic N; Balmaña J; Capellá G; Pineda M; Vega A; Lázaro C; de la Hoya M; Diez O; Gutiérrez-Enríquez S
    Front Genet; 2018; 9():366. PubMed ID: 30233647
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.