Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.R132C
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DSC2

NM_024422.6:p.R132C

Associated Papers

Advances in arrhythmogenic cardiomyopathy modeling using human-induced pluripotent stem cell-based models.

Mostert D et al.

Heart Rhythm, 2025

Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.

Gerritse M et al.

Pharmacology & Therapeutics, 2025

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.

Nagyova E et al.

Journal of Cardiovascular Translational Research, 2023

37418234 (PubMed )
Supplement: 12265_2023_10403_MOESM6_ESM.xlsx › Multiple_mutations

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

Fan X et al.

Stem Cell Reviews and Reports, 2023

Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.

Chua CJ et al.

Genes, 2023

Spironolactone as a Potential New Treatment to Prevent Arrhythmias in Arrhythmogenic Cardiomyopathy Cell Model.

Reisqs JB et al.

Journal of Personalized Medicine, 2023

Arrhythmogenic cardiomyopathy as a myogenic disease: highlights from cardiomyocytes derived from human induced pluripotent stem cells.

Reisqs JB et al.

Frontiers in Physiology, 2023

Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.

Pohl GM et al.

Frontiers in Cardiovascular Medicine, 2023

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

Vermeer MCSC et al.

International Journal of Molecular Sciences, 2022

Sudden Unexpected Death Associated with Arrhythmogenic Cardiomyopathy: Study of the Cardiac Conduction System.

Ottaviani G et al.

Diagnostics (basel, Switzerland), 2021

Deciphering DSC2 arrhythmogenic cardiomyopathy electrical instability: From ion channels to ECG and tailored drug therapy.

Moreau A et al.

Clinical and Translational Medicine, 2021

G790del mutation in DSC2 alone is insufficient to develop the pathogenesis of ARVC in a mouse model.

Hamada Y et al.

Biochemistry and Biophysics Reports, 2020

Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

Haggerty CM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Wada Y et al.

Molecular Genetics & Genomic Medicine, 2017

The genetic background of arrhythmogenic right ventricular cardiomyopathy.

Ohno S

Journal of Arrhythmia, 2016

Mechanistic basis of desmosome-targeted diseases.

Al-Jassar C et al.

Journal of Molecular Biology, 2013

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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."