Varaico: Literature-Extracted Genetic Variants

Gene:DSG2
Variant:p.Q558*
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DSG2

NM_001943.5:p.Q558*

Associated Papers

Integrative genomic and literature assessment of desmoglein 2-related arrhythmogenic cardiomyopathy with Italian cohort validation.

Pinci S et al.

Communications Medicine, 2026

Givinostat inhibits in vitro differentiation of cardiac fibroadipogenic precursors from a mouse model of arrhythmogenic cardiomyopathy.

Vencato S et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

Generation of the human iPSC line UNIPDi006-A from a patient with arrhythmogenic cardiomyopathy carrying the DSG2 c.1672C > T pathogenic variant.

Sacchetto C et al.

Stem Cell Research, 2025

Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy.

Chen L et al.

Circulation, 2025

Animal Models and Molecular Pathogenesis of Arrhythmogenic Cardiomyopathy Associated with Pathogenic Variants in Intercalated Disc Genes.

Vencato S et al.

International Journal of Molecular Sciences, 2024

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.

Zhang B et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.

Fan X et al.

Stem Cell Reviews and Reports, 2023

New drug discovery of cardiac anti-arrhythmic drugs: insights in animal models.

Sharma AK et al.

Scientific Reports, 2023

Myocarditis-like Episodes in Patients with Arrhythmogenic Cardiomyopathy: A Systematic Review on the So-Called Hot-Phase of the Disease.

Bariani R et al.

Biomolecules, 2022

Animal Models to Study Cardiac Arrhythmias.

Blackwell DJ et al.

Circulation Research, 2022

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.

Shiba M et al.

Human Molecular Genetics, 2021

'Hot phase' clinical presentation in arrhythmogenic cardiomyopathy.

Bariani R et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021

The Role of MicroRNAs in Arrhythmogenic Cardiomyopathy: Biomarkers or Innocent Bystanders of Disease Progression?

Bueno Marinas M et al.

International Journal of Molecular Sciences, 2020

Established and Emerging Mechanisms in the Pathogenesis of Arrhythmogenic Cardiomyopathy: A Multifaceted Disease.

Gao S et al.

International Journal of Molecular Sciences, 2020

A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort.

Bueno Marinas M et al.

International Journal of Molecular Sciences, 2020

Pathogenic Potential of Hic1-Expressing Cardiac Stromal Progenitors.

Soliman H et al.

Cell Stem Cell, 2020

Genetic Animal Models for Arrhythmogenic Cardiomyopathy.

Gerull B et al.

Frontiers in Physiology, 2020

A novel murine model for arrhythmogenic cardiomyopathy points to a pathogenic role of Wnt signalling and miRNA dysregulation.

Calore M et al.

Cardiovascular Research, 2019

Arrhythmogenic cardiomyopathy: in search of unifying genetic theory.

Hoffman JA et al.

Cardiovascular Research, 2019

Genetic diseases of junctions.

Lai-Cheong JE et al.

The Journal of Investigative Dermatology, 2007

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.

Pilichou K et al.

Circulation, 2006

[Radical correction of an atypical variant of aortic coarctation].

Solov'ev GM et al.

Grudnaia I Serdechno-sosudistaia Khirurgiia, 1990

[Cloning and structural analysis of cDNA coding for human prointerleukin-1 alpha and prointerleukin-1 beta].

Kotenko SV et al.

Molekuliarnaia Genetika, Mikrobiologiia I Virusologiia, 1989

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."