Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy

Cadherins mediate intercellular mechanical signaling in fibroblasts by activation of stretch-sensitive calcium-permeable channels

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Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: Proposed Modification of the Task Force Criteria

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Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

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Exercise Increases Age-Related Penetrance and Arrhythmic Risk in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy–Associated Desmosomal Mutation Carriers

James, C. A., Bhonsale, A., Tichnell, C., Murray, B., Russell, S. D., Tandri, H., Tedford, R. J., Judge, D. P., & Calkins, H. (2013) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2013.06.033 · Cited by 710

Widespread macromolecular interaction perturbations in human genetic disorders

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Age- and Training-Dependent Development of Arrhythmogenic Right Ventricular Cardiomyopathy in Heterozygous Plakoglobin-Deficient Mice

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Arrhythmogenic Right Ventricular Cardiomyopathy: Evaluation of the Current Diagnostic Criteria and Differential Diagnosis

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The Hippo Pathway Is Activated and Is a Causal Mechanism for Adipogenesis in Arrhythmogenic Cardiomyopathy

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Exercise has a Disproportionate Role in the Pathogenesis of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in Patients Without Desmosomal Mutations

Sawant, A. C., Bhonsale, A., te Riele, A. S. J. M., Tichnell, C., Murray, B., Russell, S. D., Tandri, H., Tedford, R. J., Judge, D. P., Calkins, H., et al. (2014) · Journal of the American Heart Association · doi:10.1161/jaha.114.001471 · Cited by 221

Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2 -related arrhythmogenic right ventricular cardiomyopathy

Pilichou, K., Remme, C. A., Basso, C., Campian, M. E., Rizzo, S., Barnett, P., Scicluna, B. P., Bauce, B., van den Hoff, M. J. B., de Bakker, J. M. T., et al. (2009) · Journal of Experimental Medicine · doi:10.1084/jem.20090641 · Cited by 210

Modeling of arrhythmogenic right ventricular cardiomyopathy with human induced pluripotent stem cells

Caspi, O., Huber, I., Gepstein, A., Arbel, G., Maizels, L., Boulos, M., & Gepstein, L. (2013) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.113.000188 · Cited by 186

An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis

Chatterjee, D., Fatah, M., Akdis, D., Spears, D. A., Koopmann, T. T., Mittal, K., Rafiq, M. A., Cattanach, B. M., Zhao, Q., Healey, J. S., et al. (2018) · European Heart Journal · doi:10.1093/eurheartj/ehy567 · Cited by 161

Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy

Noorman, M., Hakim, S., Kessler, E., Groeneweg, J. A., Cox, M. G. P. J., Asimaki, A., van Rijen, H. V. M., van Stuijvenberg, L., Chkourko, H., van der Heyden, M. A. G., et al. (2013) · Heart Rhythm · doi:10.1016/j.hrthm.2012.11.018 · Cited by 154

Cardiac mesenchymal stromal cells are a source of adipocytes in arrhythmogenic cardiomyopathy

Sommariva, E., Brambilla, S., Carbucicchio, C., Gambini, E., Meraviglia, V., Dello Russo, A., Farina, F. M., Casella, M., Catto, V., Pontone, G., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehv579 · Cited by 101

General and Disease-Specific Psychosocial Adjustment in Patients With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy With Implantable Cardioverter Defibrillators: A Large Cohort Study

James, C. A., Tichnell, C., Murray, B., Daly, A., Sears, S. F., & Calkins, H. (2012) · Circulation: Cardiovascular Genetics · doi:10.1161/circgenetics.111.960898 · Cited by 72

High Risk of Heart Failure Associated with Desmoglein-2 Mutations Compared to Plakophilin-2 Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Hermida, A., Fressart, V., Hidden-Lucet, F., Donal, E., Probst, V., Deharo, J.-C., Chevalier, P., Klug, D., Mansencal, N., Delacretaz, E., et al. (2019) · European Journal of Heart Failure · doi:10.1002/ejhf.1423 · Cited by 71

Wnt/β-catenin pathway in arrhythmogenic cardiomyopathy

Lorenzon, A., Calore, M., Poloni, G., De Windt, L. J., Braghetta, P., & Rampazzo, A. (2017) · Oncotarget · doi:10.18632/oncotarget.17457 · Cited by 64

AAV9:PKP2 improves heart function and survival in a Pkp2-deficient mouse model of arrhythmogenic right ventricular cardiomyopathy

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Postural Orthostatic Tachycardia Syndrome (POTS) – A novel member of the autoimmune family

Dahan, S., Tomljenovic, L., & Shoenfeld, Y. (2016) · Lupus · doi:10.1177/0961203316629558 · Cited by 55

Genetics and Genomics of Single-Gene Cardiovascular Diseases

Marian, A. J., van Rooij, E., & Roberts, R. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.09.968 · Cited by 48

Ectodermal dysplasia–skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1

Ersoy-Evans, S., Erkin, G., Fassihi, H., Chan, I., Paller, A. S., Sürücü, S., & McGrath, J. A. (2006) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2005.10.002 · Cited by 48

Myocardial Inflammation as a Manifestation of Genetic Cardiomyopathies: From Bedside to the Bench

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Established and Emerging Mechanisms in the Pathogenesis of Arrhythmogenic Cardiomyopathy: A Multifaceted Disease

Gao, S., Puthenvedu, D., Lombardi, R., & Chen, S. N. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21176320 · Cited by 28

Cardiac sympathetic neurons are additional cells affected in genetically determined arrhythmogenic cardiomyopathy

Vanaja, I. P., Scalco, A., Ronfini, M., Bona, A. D., Olianti, C., Rizzo, S., Chelko, S. P., Corrado, D., Sacconi, L., Basso, C., et al. (2025) · The Journal of Physiology · doi:10.1113/jp286845 · Cited by 17

Histopathological Features and Protein Markers of Arrhythmogenic Cardiomyopathy

Bueno-Beti, C., & Asimaki, A. (2021) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2021.746321 · Cited by 12

Evaluation of Tideglusib as a Disease Modifying Therapy in Murine Models of Arrhythmogenic Cardiomyopathy

Malhotra, N., Cavus, O., Wallace, M. J., Bobik, J. T., You, K., Takenaka, S. S., Abdallah, D., Mohler, E. J., Antwi-Boasiako, S., Murphy, N. P., et al. (2025) · JACC: Basic to Translational Science · doi:10.1016/j.jacbts.2025.03.013 · Cited by 5

Cardiomyocyte and stromal cell cross-talk influences the pathogenesis of arrhythmogenic cardiomyopathy: a multi-level analysis uncovers DLK1-NOTCH pathway role in fibro-adipose remodelling

Maione, A. S., Iengo, L., Sala, L., Massaiu, I., Chiesa, M., Lippi, M., Ghilardi, S., Florindi, C., Lodola, F., Zaza, A., et al. (2024) · Cell Death Discovery · doi:10.1038/s41420-024-02232-8 · Cited by 4