Associated Papers
CRISPR-MiX: A pooled single-stranded donor strategy to enhance HDR efficiency in human iPSCs.
Baum R et al.
Molecular Therapy. Nucleic Acids, 2026
Inflammation and Immunogenetics in Cardiomyopathies: From Molecular Mechanisms to Therapeutic Perspectives.
Peretto G et al.
Immunological Reviews, 2026
Preferences regarding preconceptional and genetic counselling and pregnancy check-ups among women with the PLN p. (Arg14del) variant.
Hogenhout SA et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2026
[Cardiac arrhythmias-Cellular mechanisms, consequences and challenges in the diagnostics using human models].
Streckfuß-Bömeke K et al.
Herz, 2026
Gene-based Therapies for Genetic Cardiomyopathies: Molecular Medicine for Heart Disease.
Sharma S et al.
The Canadian Journal of Cardiology, 2026
European task force reclassification of dilated and non-dilated cardiomyopathies identifies a high arrhythmic-risk overlap phenotype.
Bonanni F et al.
International Journal of Cardiology, 2026
Detection of Titin-Associated Electrocardiography Features in Dilated Cardiomyopathy Using Conventional and Deep Neural Network Analysis.
Heymans ABM et al.
Jacc. Clinical Electrophysiology, 2026
Promoting Autophagy Mitigates Stress-Induced Remodeling in Patient iPSC-CMs with the Phospholamban R9C Mutation.
Yu Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
PLN-L31A/I40A for the treatment of inherited heart disease caused by PLN-R14del mutations.
Chen ZY et al.
Acta Pharmacologica Sinica, 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
Age-related penetrance of phospholamban p.Arg14del cardiomyopathy.
Verstraelen TE et al.
European Journal of Heart Failure, 2025
Calcium handling remodeling in dilated cardiomyopathy: From molecular mechanisms to targeted therapies.
Wang Y et al.
Channels (austin, Tex.), 2025
Advances in arrhythmogenic cardiomyopathy modeling using human-induced pluripotent stem cell-based models.
Mostert D et al.
Heart Rhythm, 2025
Impact of genotype-phenotype associations on prognosis in dilated cardiomyopathy.
Stroeks SLVM et al.
European Journal of Heart Failure, 2025
Unraveling the Pathophysiological Mechanisms of Phospholamban R14del Cardiomyopathy: A Comprehensive Overview.
Maas RGC et al.
Circulation. Heart Failure, 2025
Generation and characterization of human induced pluripotent stem cell (iPSC) lines from two asymptomatic Greek carriers of the Phospholamban (PLN)-R14del pathogenic variant and a non-carrier relative.
Gaar-Humphreys KR et al.
Stem Cell Research, 2025
Maintenance of Energy Metabolism Is an Integral Part of Plakophilin-2 and Desmosome Functions.
Aycinena JA et al.
Jacc. Basic to Translational Science, 2025
Clinical care of family members of patients with dilated cardiomyopathy.
Verdonschot JAJ et al.
European Heart Journal, 2025
In PLN-R14del mice, SR structure restoration, rather than calcium cycling, is the dominant effector of PLN-ASO treatment.
Sun L et al.
Cardiovascular Research, 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
Gene-elusive arrhythmogenic cardiomyopathy: Roles of sports, inflammation, and beyond.
Tramèr L et al.
Heart Rhythm, 2025
Cardiac remodeling pathways do not accelerate disease onset and severity in a mouse model of PLN-R14del cardiomyopathy.
Sun L et al.
Scientific Reports, 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
Tailored therapeutics for cardiomyopathies.
Bakalakos A et al.
Nature Reviews. Cardiology, 2025
Genetic architecture of dilated cardiomyopathy in Poland: variant distribution, clinical characteristics, and prognosis.
Chmielewski P et al.
Polish Archives of Internal Medicine, 2025
Insights into pegRNA design from editing of the cardiomyopathy-associated phospholamban R14del mutation.
Yao B et al.
Febs Letters, 2025
Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.
Ziemian M et al.
International Journal of Molecular Sciences, 2025
PLN-related obstructive hypertrophic cardiomyopathy responsive to mavacamten.
Beltrami M et al.
European Heart Journal, 2025
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
Different underlying aetiologies in patients presenting with ventricular tachycardia fulfilling task force criteria for arrhythmogenic right ventricular cardiomyopathy: initial suspicion based on the 12-lead electrocardiogram.
Hoogendoorn JC 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, 2025
Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant.
van Drie E et al.
International Journal of Cardiology, 2025
Dilated cardiomyopathy: from genes and molecules to potential treatments.
Wang X et al.
Molecular and Cellular Biochemistry, 2025
Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.
Gerritse M et al.
Pharmacology & Therapeutics, 2025
Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics.
Galanti K et al.
Esc Heart Failure, 2025
ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Lee K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
From Rare Genetic Variants to Polygenic Risk: Understanding the Genetic Basis of Cardiomyopathies.
Garcia-Ruano AB et al.
Journal of Cardiovascular Development and Disease, 2025
Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant.
Wong LY et al.
Scientific Reports, 2025
China Multi-Center Cohort Study on Risk Evaluation of Arrhythmogenic Cardiomyopathy: The ChinaCORE ACM Registry.
Hu Y et al.
Jacc. Asia, 2025
Precision medicine applications in dilated cardiomyopathy: Advancing personalized care.
Khattab E et al.
Current Problems in Cardiology, 2025