Associated Papers
Integrative genomic and literature assessment of desmoglein 2-related arrhythmogenic cardiomyopathy with Italian cohort validation.
Pinci S et al.
Communications Medicine, 2026
Genotype-Specific Outcomes of Desmosomal Cardiomyopathies.
Pergola V et al.
Circulation, 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
Arrhythmogenic cardiomyopathy-related cadherin variants affect desmosomal binding kinetics.
Göz M et al.
Journal of Molecular and Cellular Cardiology, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 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
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.
Pohl GM et al.
Frontiers in Cardiovascular Medicine, 2023
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.
Goudal A et al.
Human Mutation, 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
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences.
Vissing CR et al.
Journal of Medical Genetics, 2021
Left Ventricular Dysfunction in Arrhythmogenic Cardiomyopathy: Association With Exercise Exposure, Genetic Basis, and Prognosis.
Lie ØH et al.
Journal of the American Heart Association, 2021
Diagnosing arrhythmogenic right ventricular cardiomyopathy by 2010 Task Force Criteria: clinical performance and simplified practical implementation.
Bosman LP 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, 2020
Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.
Campuzano O et al.
Ebiomedicine, 2020
Desmoglein-2 mutations in propeptide cleavage-site causes arrhythmogenic right ventricular cardiomyopathy/dysplasia by impairing extracellular 1-dependent desmosomal interactions upon cellular stress.
Vite A 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, 2020
Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.
van Lint FHM et al.
Circulation. Genomic and Precision Medicine, 2019
In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.
Debus JD et al.
Journal of Molecular and Cellular Cardiology, 2019
Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias.
Broendberg AK et al.
European Journal of Human Genetics : Ejhg, 2018
A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.
Chanavat V et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy.
Alcalde M et al.
Plos One, 2014
Mechanistic basis of desmosome-targeted diseases.
Al-Jassar C et al.
Journal of Molecular Biology, 2013
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
Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms.
Rasmussen TB et al.
Clinical Genetics, 2013
Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.
Rasmussen TB et al.
Human Mutation, 2013
In vitro functional analyses of arrhythmogenic right ventricular cardiomyopathy-associated desmoglein-2-missense variations.
Gaertner A et al.
Plos One, 2012
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Tan BY et al.
Journal of Cardiovascular Translational Research, 2010
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.
Fressart V 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, 2010
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.
Bhuiyan ZA et al.
Circulation. Cardiovascular Genetics, 2009
Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
den Haan AD et al.
Circulation. Cardiovascular Genetics, 2009