Publicacións (47) Publicacións de Mario Torrado Oubiña

2024

  1. Discovery of a cryptic founder variant in MYBPC3 associated with hypertrophic cardiomyopathy by promoting the most frequent natural missplicing events

    European Heart Journal, Vol. 45, Núm. Supplement 1

2022

  1. Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree

    Scientific Reports, Vol. 12, Núm. 1

2021

  1. A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome

    npj Genomic Medicine, Vol. 6, Núm. 1

2020

  1. A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy

    Canadian Journal of Cardiology, Vol. 36, Núm. 9, pp. 1554.e1-1554.e3

  2. Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy

    Circulation: Genomic and Precision Medicine, Vol. 13, Núm. 3, pp. E002905

2018

  1. A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome

    BioMed Research International, Vol. 2018

  2. Interplay between cardiac transcription factors and non-coding RNAs in predisposing to atrial fibrillation

    Journal of Molecular Medicine, Vol. 96, Núm. 7, pp. 601-610

2016

  1. Myocardial transcription factors in diastolic dysfunction: clues for model systems and disease

    Heart Failure Reviews, Vol. 21, Núm. 6, pp. 783-794

2015

  1. A MicroRNA-Transcription factor blueprint for early atrial arrhythmogenic remodeling

    BioMed Research International, Vol. 2015

2014

  1. Pitx2c is reactivated in the failing myocardium and stimulates Myf5 expression in cultured cardiomyocytes

    PLoS ONE, Vol. 9, Núm. 3

2012

  1. In search of novel targets for heart disease: Myocardin and myocardin-related transcriptional cofactors

    Biochemistry Research International

2011

  1. Targeted gene-silencing reveals the functional significance of myocardin signaling in the failing heart

    PLoS ONE, Vol. 6, Núm. 10

2010

  1. Exon-skipping brain natriuretic peptide variant is overexpressed in failing myocardium and attenuates brain natriuretic peptide production in vitro

    Experimental Biology and Medicine, Vol. 235, Núm. 8, pp. 941-951

  2. Identification of candidate genes potentially relevant to chamber-specific remodeling in postnatal ventricular myocardium

    Journal of Biomedicine and Biotechnology, Vol. 2010

2009

  1. Detection of protein interactions based on GFP fragment complementation by fluorescence microscopy and spectrofluorometry

    BioTechniques, Vol. 45, Núm. 5 SUPPL., pp. 65

  2. In vivo forced expression of myocardin in ventricular myocardium transiently impairs systolic performance in early neonatal pig heart

    International Journal of Developmental Biology, Vol. 53, Núm. 8-10, pp. 1457-1467

  3. Intron retention generates ANKRD1 splice variants that are co-regulated with the main transcript in normal and failing myocardium

    Gene, Vol. 440, Núm. 1-2, pp. 28-41

2008

  1. Detection of protein interactions based on GFP fragment complementation by fluorescence microscopy and spectrofluorometry

    BioTechniques, Vol. 44, Núm. 1, pp. 70-74

  2. The enigmatic role of the ankyrin repeat domain 1 gene in heart development and disease

    International Journal of Developmental Biology, Vol. 52, Núm. 7, pp. 811-821

2006

  1. Differential atrial versus ventricular ANKRD1 gene expression is oppositely regulated at diastolic heart failure

    FEBS Letters, Vol. 580, Núm. 17, pp. 4182-4187