Associated Papers
Inflammation and Immunogenetics in Cardiomyopathies: From Molecular Mechanisms to Therapeutic Perspectives.
Peretto G et al.
Immunological Reviews, 2026
Setting the stage for cardiomyopathy gene editing trials: a systematic review of isogenic pair use in human induced pluripotent stem cell-derived cardiomyocyte research.
van der Wilt CN et al.
European Heart Journal Open, 2026
Arrhythmic genotypes in dilated cardiomyopathy and risk of advanced heart failure.
Mora-Ayestarán N et al.
European Heart Journal, 2025
Decreased RYR2 Cluster Size and Abnormal SR Ca2+ Release Contribute to Arrhythmogenesis in TMEM43-Related ARVC.
Shen J et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Clinical care of family members of patients with dilated cardiomyopathy.
Verdonschot JAJ et al.
European Heart Journal, 2025
The ARVC-5-associated protein TMEM43 controls mitochondrial energy metabolism by stabilising ER-mitochondrial contact sites.
Jürgens K et al.
Cellular and Molecular Life Sciences : Cmls, 2025
The role of iPSC research for insight into inherited arrhythmia conditions.
Josvai MB et al.
Heart Rhythm, 2025
Risk Stratification and Optimal Use of Implantable Cardioverter-Defibrillator Therapy in Primary Prevention of Sudden Cardiac Death in Genetic Cardiomyopathies, with Assessment of the Role of Genetic Variants in Guiding Therapeutic Decisions.
Ruscio E et al.
Biomedicines, 2025
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
Arrhythmogenic Cardiomyopathy and Biomarkers: A Promising Perspective?
Barocelli F et al.
Journal of Clinical Medicine, 2025
Arrhythmogenic Cardiomyopathy: Towards Genotype Based Diagnoses and Management.
Muller SA et al.
Journal of Cardiovascular Electrophysiology, 2025
Suppression of SREBP by a transmembrane protein mutated in cardiomyopathy.
Takemoto Y et al.
The Journal of Biological Chemistry, 2025
Features of the electrocardiogram in TMEM43 p.S358L arrhythmogenic cardiomyopathy.
Duffett SA et al.
Heart Rhythm, 2025
The Natural History and Clinical Outcomes of Transmembrane Protein 43 Cardiomyopathy: A Systematic Review.
Cecere A et al.
Journal of Clinical Medicine, 2025
Family Screening in Relatives at Risk for Plakophilin-2-Associated Arrhythmogenic Right Ventricular Cardiomyopathy.
Muller SA et al.
Circulation, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Transmembrane Protein 43: Molecular and Pathogenetic Implications in Arrhythmogenic Cardiomyopathy and Various Other Diseases.
Orgil BO et al.
International Journal of Molecular Sciences, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Precision medicine applications in dilated cardiomyopathy: Advancing personalized care.
Khattab E et al.
Current Problems in Cardiology, 2025
New Insights Into Genetic Right Ventricular Cardiomyopathies.
Garcia-Montero M et al.
The Canadian Journal of Cardiology, 2025
Overexpression of Wild-Type TMEM43 Improves Cardiac Function in Arrhythmogenic Right Ventricular Cardiomyopathy Type 5.
Lalaguna L et al.
Circulation Research, 2025
GSK3 inhibition ameliorates the abnormal contractility of Newfoundland ACM patient iPSC-cardiomyocytes.
Noort RJ et al.
American Journal of Physiology. Cell Physiology, 2025
The LINC complex in blood vessels: from physiology to pathological implications in arterioles.
Ferreira G et al.
The Journal of Physiology, 2025
Genetics in arrhythmogenic cardiomyopathies: where are we now and where are we heading to?
Mazzanti A et al.
European Heart Journal Supplements : Journal of the European Society of Cardiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Identification of Biomarkers of Arrhythmogenic Cardiomyopathy (ACM) by Plasma Proteomics.
Zarrouk S et al.
Medicina (kaunas, Lithuania), 2025
NMPhenogen: a comprehensive database for genotype-phenotype correlation in neuromuscular genetic disorders.
Manjunath U et al.
Frontiers in Neuroscience, 2025
Proteomic screening of TMEM43 binding partners identifies VDAC leading to mitochondrial dysfunction.
Zhu Q et al.
Plos One, 2025
Role of miRNA-mRNA Interactome in Pathophysiology of Arrhythmogenic Cardiomyopathy.
Bonet F et al.
Biomedicines, 2024
In Vivo Approaches to Understand Arrhythmogenic Cardiomyopathy: Perspectives on Animal Models.
Risato G et al.
Cells, 2024
Unexpected Genetic Twists in Patients with Cardiac Devices.
Goanta EV et al.
Journal of Clinical Medicine, 2024
A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.
Bueno Marinas M et al.
International Journal of Molecular Sciences, 2024
Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9.
Ratnavadivel S et al.
Stem Cell Research, 2024
Transmembrane proteins with unknown function (TMEMs) as ion channels: electrophysiological properties, structure, and pathophysiological roles.
Kang H et al.
Experimental & Molecular Medicine, 2024
Natural History of Dilated Cardiomyopathy Due to c.77T>C (p.Val26Ala) in Emerin Protein.
Báez-Ferrer N et al.
Journal of Clinical Medicine, 2024
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024.
Ma H et al.
Frontiers in Medicine, 2024
Cardiac MRI and Clinical Outcomes in TMEM43 Arrhythmogenic Cardiomyopathy.
Matos J et al.
Radiology. Cardiothoracic Imaging, 2023
Arrhythmogenic Cardiomyopathy: from Preclinical Models to Genotype-phenotype Correlation and Pathophysiology.
Fan X et al.
Stem Cell Reviews and Reports, 2023
Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS et al.
Genome Medicine, 2023