Associated Papers
Clinical features and outcome of arrhythmogenic cardiomyopathy because of a desmoglein-2 founder variant: A multicenter study.
Fu B et al.
Heart Rhythm, 2026
Integrative genomic and literature assessment of desmoglein 2-related arrhythmogenic cardiomyopathy with Italian cohort validation.
Pinci S et al.
Communications Medicine, 2026
Biventricular Dysfunction in Knock-in Mice With Dsg2 Variants Specific for Japanese Arrhythmogenic Right Ventricular Cardiomyopathy.
Zankov DP et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2025
Arrhythmogenic cardiomyopathy mimicking cardiac amyloidosis with Waldenström macroglobulinaemia: A diagnostic challenge.
Ma L et al.
Esc Heart Failure, 2025
Construction of engineered cardiac tissue on a heart-on-a-chip device enables modeling of arrhythmogenic right ventricular cardiomyopathy.
Qu KY et al.
Biosensors & Bioelectronics, 2025
Arrhythmogenic Right Ventricular Cardiomyopathy in Monozygotic Twins-A Case Report.
Xie L et al.
Journal of Clinical Ultrasound : Jcu, 2025
Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular Cardiomyopathy.
Chen L et al.
Circulation, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Hyperactivation of ATF4/TGF-β1 signaling contributes to the progressive cardiac fibrosis in Arrhythmogenic cardiomyopathy caused by DSG2 Variant.
Zhang B et al.
Bmc Medicine, 2024
Case report: Additional variants induced sudden cardiac death among pediatric ACM with DSG2 homozygous mutant genotype: a report of three cases.
Wei M et al.
Frontiers in Genetics, 2024
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
Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.
Zhang B et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Understanding Arrhythmogenic Cardiomyopathy: Advances through the Use of Human Pluripotent Stem Cell Models.
Chua CJ et al.
Genes, 2023
Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing.
Tsai HH et al.
Nature Communications, 2023
Misdiagnosed myocarditis in arrhythmogenic cardiomyopathy induced by a homozygous variant of DSG2: a case report.
Liu X et al.
Frontiers in Cardiovascular Medicine, 2023
Editorial: Molecular pathogenesis and novel treatments for inherited cardiomyopathies.
Chou C et al.
Frontiers in Cardiovascular Medicine, 2023
Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Chen J et al.
Orphanet Journal of Rare Diseases, 2022
Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.
Murakami H et al.
Human Genome Variation, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 2022
Heart Failure in Patients with Arrhythmogenic Cardiomyopathy.
Chen S et al.
Journal of Clinical Medicine, 2021
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
Genetic analysis using targeted next-generation sequencing of sporadic Chinese patients with idiopathic dilated cardiomyopathy.
Li M et al.
Journal of Translational Medicine, 2021
Epidemiology of the inherited cardiomyopathies.
McKenna WJ et al.
Nature Reviews. Cardiology, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity.
Te Riele ASJM et al.
Frontiers in Pediatrics, 2021
Shared Genetic Etiology of Primary Dilated Cardiomyopathy and Ischemic Dilated Cardiomyopathy.
Sun Y et al.
Frontiers in Cardiovascular Medicine, 2021
Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.
Stevens TL et al.
Journal of Cardiovascular Development and Disease, 2020
Integrin β1D Deficiency-Mediated RyR2 Dysfunction Contributes to Catecholamine-Sensitive Ventricular Tachycardia in Arrhythmogenic Right Ventricular Cardiomyopathy.
Wang Y et al.
Circulation, 2020
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
A common indel polymorphism of the Desmoglein-2 (DSG2) is associated with sudden cardiac death in Chinese populations.
Zou Y et al.
Forensic Science International, 2019
The complex molecular genetics of arrhythmogenic cardiomyopathy.
Celeghin R et al.
International Journal of Cardiology, 2019
A founder homozygous DSG2 variant in East Asia results in ARVC with full penetrance and heart failure phenotype.
Chen L et al.
International Journal of Cardiology, 2019
Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2.
Chen X et al.
Human Genome Variation, 2019
PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients.
Bidina L et al.
Anatolian Journal of Cardiology, 2018
Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.
Lin Y et al.
Bmc Medical Genetics, 2018
Absence of a primary role for TTN missense variants in arrhythmogenic cardiomyopathy: From a clinical and pathological perspective.
Chen K et al.
Clinical Cardiology, 2018
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
Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.
Liu N et al.
Scientific Reports, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Remodelling of myocardial intercalated disc protein connexin 43 causes increased susceptibility to malignant arrhythmias in ARVC/D patients.
Chen X et al.
Forensic Science International, 2017
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.
Andreasen C et al.
European Journal of Human Genetics : Ejhg, 2013
Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Ohno S et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2013
Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles.
Lin Y et al.
Cardiology, 0
Compound and heterozygous mutations of DSG2 identified by Whole Exome Sequencing in arrhythmogenic right ventricular cardiomyopathy/dysplasia with ventricular tachycardia.
Lin Y et al.
Journal of Electrocardiology, 0