Associated Papers
A Genome-Wide Association Study Reveals Desmoglein-2 Predominance in Japanese Arrhythmogenic Cardiomyopathy.
Ishikawa T et al.
Journal of Arrhythmia, 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
Case report: Severe arrhythmogenic cardiomyopathy in a young girl with compound heterozygous DSG2 and MYBPC3 variants with a 6-year follow-up.
Hashizume R et al.
Frontiers in Genetics, 2025
Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant.
Sumida T et al.
Human Genome Variation, 2024
Vasospastic angina preceding diagnosis of arrhythmogenic cardiomyopathy in a young athlete.
Sato M et al.
Heartrhythm Case Reports, 2024
Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People.
Miura A et al.
International Heart Journal, 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
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O 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
Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.
Heliö K et al.
Frontiers in Cardiovascular Medicine, 2023
Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility.
Seo J et al.
Alzheimer's Research & Therapy, 2020
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint FHM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 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
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
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers.
Groeneweg JA et al.
The American Journal of Cardiology, 2013
Compound and digenic heterozygosity in desmosome genes as a cause of arrhythmogenic right ventricular cardiomyopathy in Japanese patients.
Nakajima T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2012
Sudden death during exercise in a juvenile with arrhythmogenic right ventricular cardiomyopathy and desmoglein-2 gene substitution: a case report.
Sato T et al.
Legal Medicine (tokyo, Japan), 2011
Sudden cardiac death in young: A cardiac-focused autopsy and molecular study to identify the cause.
Arava S et al.
Indian Heart Journal, 0