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Items: 1 to 20 of 90

1.
Single-cell RNA sequencing in donor and end-stage heart failure patients identifies NLRP3 as a therapeutic target for arrhythmogenic right ventricular cardiomyopathy
Mengxia Fu, Xiumeng Hua, Songren Shu, Xinjie Xu, Hang Zhang, Zhiming Peng, Han Mo, Yanyun Liu, Xiao Chen, Yicheng Yang, Ningning Zhang, Xiaohu Wang, Zirui Liu, Guangxin Yue, Shengshou Hu, Jiangping Song
BMC Med. 2024; 22: 11. Published online 2024 Jan 8. doi: 10.1186/s12916-023-03232-8
PMCID:
PMC10773142
ArticlePDF–9.7M
2.
A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients
Emilia Nagyova, Edgar T. Hoorntje, Wouter P. te Rijdt, Laurens P. Bosman, Petros Syrris, Alexandros Protonotarios, Perry M. Elliott, Adalena Tsatsopoulou, Luisa Mestroni, Matthew R. G. Taylor, Gianfranco Sinagra, Marco Merlo, Yuko Wada, Minoru Horie, Jens Mogensen, Alex H. Christensen, Brenda Gerull, Lei Song, Yan Yao, Siyang Fan, Ardan M. Saguner, Firat Duru, Juha W. Koskenvuo, Tania Cruz Marino, Crystal Tichnell, Daniel P. Judge, Dennis Dooijes, Ronald H. Lekanne Deprez, Cristina Basso, Kalliopi Pilichou, Barbara Bauce, Arthur A. M. Wilde, Philippe Charron, Véronique Fressart, Jeroen F. van der Heijden, Maarten P. van den Berg, Folkert W. Asselbergs, Cynthia A. James, Jan D. H. Jongbloed, Magdalena Harakalova, J. Peter van Tintelen
J Cardiovasc Transl Res. 2023; 16(6): 1276–1286. Published online 2023 Jul 7. doi: 10.1007/s12265-023-10403-8
PMCID:
PMC10721666
ArticlePDF–1.8M
3.
Alterations in Calcium Handling Are a Common Feature in an Arrhythmogenic Cardiomyopathy Cell Model Triggered by Desmosome Genes Loss
Marta Vallverdú-Prats, David Carreras, Guillermo J. Pérez, Oscar Campuzano, Ramon Brugada, Mireia Alcalde
Int J Mol Sci. 2023 Feb; 24(3): 2109. Published online 2023 Jan 20. doi: 10.3390/ijms24032109
PMCID:
PMC9917020
ArticlePDF–8.6M
4.
Characterisation of patients referred to a tertiary-level inherited cardiac condition clinic with suspected arrhythmogenic right ventricular cardiomyopathy (ARVC)
A. Aljehani, T. Kew, S. Baig, H. Cox, L. C. Sommerfeld, B. Ensam, M. Kalla, R. P. Steeds, L. Fabritz
BMC Cardiovasc Disord. 2023; 23: 14. Published online 2023 Jan 12. doi: 10.1186/s12872-022-03021-w
PMCID:
PMC9837886
ArticlePDF–1.2M
5.
Epicardial conduction abnormalities in patients with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) and mutation positive healthy family members – A study using electrocardiographic imaging
Varvara Kommata, Elena Sciaraffia, Carina Blomström-Lundqvist
PLoS One. 2023; 18(1): e0280111. Published online 2023 Jan 5. doi: 10.1371/journal.pone.0280111
PMCID:
PMC9815642
ArticlePDF–812K
6.
Defective Desmosomal Adhesion Causes Arrhythmogenic Cardiomyopathy by Involving an Integrin-αVβ6/TGF-β Signaling Cascade
Camilla Schinner, Lifen Xu, Henriette Franz, Aude Zimmermann, Marie-Therès Wanuske, Maitreyi Rathod, Pauline Hanns, Florian Geier, Pawel Pelczar, Yan Liang, Vera Lorenz, Chiara Stüdle, Piotr I. Maly, Silke Kauferstein, Britt M. Beckmann, Farah Sheikh, Gabriela M. Kuster, Volker Spindler
Circulation. 2022 Nov 22; 146(21): 1610–1626. Published online 2022 Oct 21. doi: 10.1161/CIRCULATIONAHA.121.057329
PMCID:
PMC9674449
ArticlePDF–5.1M
7.
Activation of PPARα Ameliorates Cardiac Fibrosis in Dsg2-Deficient Arrhythmogenic Cardiomyopathy
Zirui Qiu, Yawen Zhao, Tian Tao, Wenying Guo, Ruonan Liu, Jingmin Huang, Geyang Xu
Cells. 2022 Oct; 11(20): 3184. Published online 2022 Oct 11. doi: 10.3390/cells11203184
PMCID:
PMC9601208
ArticlePDF–2.4M
8.
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management
Adeline Goudal, Matilde Karakachoff, Pierre Lindenbaum, Estelle Baron, Stéphanie Bonnaud, Florence Kyndt, Marine Arnaud, Damien Minois, Emmanuelle Bourcereau, Aurélie Thollet, Jean‐François Deleuze, Emmanuelle Genin, François Wiart, Jean‐Luc Pasquié, Vincent Galand, Frédéric Sacher, Christian Dina, Richard Redon, Stéphane Bezieau, Jean‐Jacques Schott, Vincent Probst, Julien Barc
Hum Mutat. 2022 Sep; 43(9): 1333–1342. Published online 2022 Jul 23. doi: 10.1002/humu.24436
PMCID:
PMC9544292
ArticlePDF–851K
9.
Population Prevalence of Premature Truncating Variants in Plakophilin-2 and Association with Arrhythmogenic Right Ventricular Cardiomyopathy: A UK Biobank Analysis
Robyn J. Hylind, Alexandre C. Pereira, Daniel Quiat, Stephanie F. Chandler, Thomas M. Roston, William T. Pu, Vassilios J. Bezzerides, Jonathan G. Seidman, Christine E. Seidman, Dominic J. Abrams
Circ Genom Precis Med. Author manuscript; available in PMC 2022 Dec 1.
Published in final edited form as: Circ Genom Precis Med. 2022 Jun; 15(3): e003507. Published online 2022 May 10. doi: 10.1161/CIRCGEN.121.003507
PMCID:
PMC9400410
ArticlePDF–470K
10.
Molecular Approach of Hereditary Arrhythmias, Long QT Syndrome, and Arrhythmogenic Right Ventricular Cardiomyopathy
Hanife Saat, İbrahim Şahin, Haktan Bağış Erdem, Senem Özgür, Semiha Terlemez Tokgöz, Taha Bahsi
Anatol J Cardiol. 2022 Jun; 26(6): 460–465. Published online 2022 Jun 1. doi: 10.5152/AnatolJCardiol.2022.1324
PMCID:
PMC9361120
ArticlePDF–1.4M
11.
Decreased Expression of Plakophilin-2 and αT-Catenin in Arrhythmogenic Right Ventricular Cardiomyopathy: Potential Markers for Diagnosis
Pei-Fang Hung, Fa-Po Chung, Chung-Lieh Hung, Yenn-Jiang Lin, Tzu-Ting Kuo, Jo-Nan Liao, Yun-Yu Chen, Chih-Hsin Pan, Kai-Ping Shaw, Shih-Ann Chen
Int J Mol Sci. 2022 May; 23(10): 5529. Published online 2022 May 16. doi: 10.3390/ijms23105529
PMCID:
PMC9141850
ArticlePDF–3.4M
12.
Clinical characteristics and risk stratification of desmoplakin cardiomyopathy
Weijia Wang, Brittney Murray, Crystal Tichnell, Nisha A Gilotra, Stefan L Zimmerman, Alessio Gasperetti, Paul Scheel, Harikrishna Tandri, Hugh Calkins, Cynthia A James
Europace. 2022 Feb; 24(2): 268–277. Published online 2021 Aug 5. doi: 10.1093/europace/euab183
PMCID:
PMC8824516
ArticlePDF–1.2M
13.
Phenotypic expression, natural history and risk stratification of cardiomyopathy caused by Filamin C truncating variants
Marta Gigli, Davide Stolfo, Sharon Graw, Marco Merlo, Caterina Gregorio, Suet Nee Chen, Matteo Dal Ferro, Alessia Paldino, Giulia De Angelis, Francesca Brun, Jean Jirikowic, Ernesto E. Salcedo, Sylvia Turja, Diane Fatkin, Renee Johnson, J. Peter van Tintelen, Anneline S.J.M. Te Riele, Arthur Wilde, Neal K. Lakdawala, Kermshlise Picard, Daniela Miani, Daniele Muser, Giovanni Maria Severini, Hugh Calkins, Cynthia A. James, Brittney Murray, Crystal Tichnell, Victoria N. Parikh, Euan A. Ashley, Chloe Reuter, Jiangping Song, Daniel Judge, William J McKenna, Matthew RG Taylor, Gianfranco Sinagra, Luisa Mestroni
Circulation. Author manuscript; available in PMC 2022 Nov 16.
Published in final edited form as: Circulation. 2021 Nov 16; 144(20): 1600–1611. Published online 2021 Sep 30. doi: 10.1161/CIRCULATIONAHA.121.053521
PMCID:
PMC8595845
ArticlePDF–1.1M
14.
Circulating miR-185-5p as a Potential Biomarker for Arrhythmogenic Right Ventricular Cardiomyopathy
Claudia Sacchetto, Zenab Mohseni, Robin M. W. Colpaert, Libero Vitiello, Marzia De Bortoli, Indira G. C. Vonhögen, Ke Xiao, Giulia Poloni, Alessandra Lorenzon, Chiara Romualdi, Riccardo Bariani, Elisa Mazzotti, Luciano Daliento, Barbara Bauce, Domenico Corrado, Thomas Thum, Alessandra Rampazzo, Leon J. de Windt, Martina Calore
Cells. 2021 Oct; 10(10): 2578. Published online 2021 Sep 28. doi: 10.3390/cells10102578
PMCID:
PMC8533962
ArticlePDF–1.0M
15.
The genetic architecture of Plakophilin 2 cardiomyopathy
Annika M. Dries, Anna Kirillova, Chloe M. Reuter, John Garcia, Hana Zouk, Megan Hawley, Brittney Murray, Crystal Tichnell, Kalliopi Pilichou, Alexandros Protonotarios, Argelia Medeiros-Domingo, Melissa A. Kelly, Aris Baras, Jodie Ingles, Christopher Semsarian, Barbara Bauce, Rudy Celeghin, Cristina Basso, Jan D. H. Jongbloed, Robert L. Nussbaum, Birgit Funke, Marina Cerrone, Luisa Mestroni, Matthew R. G. Taylor, Gianfranco Sinagra, Marco Merlo, Ardan M. Saguner, Perry M. Elliott, Petros Syrris, J. Peter van Tintelen, Regeneron Genetics Center, Cynthia A. James, Christopher M. Haggerty, Victoria N. Parikh
Genet Med. 2021; 23(10): 1961–1968. Published online 2021 Jun 12. doi: 10.1038/s41436-021-01233-7
Correction in:
Genet Med. 2021; 23(10): 2014.
PMCID:
PMC8486657
ArticlePDF–1.1M
16.
Clinical Findings and Diagnostic Yield of Arrhythmogenic Cardiomyopathy Through Genomic Screening of Pathogenic or Likely Pathogenic Desmosome Gene Variants
Eric D. Carruth, Dominik Beer, Amro Alsaid, Marci L.B. Schwartz, Megan McMinn, Melissa A. Kelly, Adam H. Buchanan, Christopher D. Nevius, Hugh Calkins, Cynthia A. James, Brittney Murray, Crystal Tichnell, Martin E. Matsumura, H. Lester Kirchner, Brandon K. Fornwalt, Amy C. Sturm, Christopher M. Haggerty
Circ Genom Precis Med. 2021 Apr; 14(2): e003302. Published online 2021 Apr 19. doi: 10.1161/CIRCGEN.120.003302
PMCID:
PMC8284375
ArticlePDF–534K
17.
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework
Cynthia A. James, Jan D.H. Jongbloed, Ray E. Hershberger, Ana Morales, Daniel P. Judge, Petros Syrris, Kalliopi Pilichou, Argelia Medeiros Domingo, Brittney Murray, Julia Cadrin-Tourigny, Ronald Lekanne Deprez, Rudy Celeghin, Alexandros Protonotarios, Babken Asatryan, Emily Brown, Elizabeth Jordan, Jennifer McGlaughon, Courtney Thaxton, C. Lisa Kurtz, J. Peter van Tintelen
Circ Genom Precis Med. 2021 Jun; 14(3): e003273. Published online 2021 Apr 8. doi: 10.1161/CIRCGEN.120.003273
PMCID:
PMC8205996
ArticlePDF–934K
18.
‘Hot phase’ clinical presentation in arrhythmogenic cardiomyopathy
Riccardo Bariani, Alberto Cipriani, Stefania Rizzo, Rudy Celeghin, Maria Bueno Marinas, Benedetta Giorgi, Monica De Gaspari, Ilaria Rigato, Loira Leoni, Alessandro Zorzi, Manuel De Lazzari, Alessandra Rampazzo, Sabino Iliceto, Gaetano Thiene, Domenico Corrado, Kalliopi Pilichou, Cristina Basso, Martina Perazzolo Marra, Barbara Bauce
Europace. 2021 Jun; 23(6): 907–917. Published online 2020 Dec 13. doi: 10.1093/europace/euaa343
PMCID:
PMC8184227
ArticlePDF–748K
19.
Left Ventricular Dysfunction in Arrhythmogenic Cardiomyopathy: Association With Exercise Exposure, Genetic Basis, and Prognosis
Øyvind H. Lie, Monica Chivulescu, Christine Rootwelt‐Norberg, Margareth Ribe, Martin Prøven Bogsrud, Erik Lyseggen, Jan Otto Beitnes, Vibeke Almaas, Kristina H. Haugaa
J Am Heart Assoc. 2021 Apr 20; 10(8): e018680. Published online 2021 Apr 6. doi: 10.1161/JAHA.120.018680
PMCID:
PMC8174162
ArticlePDF–1003K
20.
Left ventricular fibro-fatty replacement in arrhythmogenic right ventricular dysplasia/cardiomyopathy: prevalence, patterns, and association with arrhythmias
Tarek Zghaib, Anneline S. J. M. Te Riele, Cynthia A. James, Neda Rastegar, Brittney Murray, Crystal Tichnell, Marc K. Halushka, David A. Bluemke, Harikrishna Tandri, Hugh Calkins, Ihab R. Kamel, Stefan Loy Zimmerman
J Cardiovasc Magn Reson. 2021; 23: 58. Published online 2021 May 20. doi: 10.1186/s12968-020-00702-3
PMCID:
PMC8135158
ArticlePDF–1.1M

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