Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis

Author:

te Riele Anneline S.J.M.123,Agullo-Pascual Esperanza4,James Cynthia A.1,Leo-Macias Alejandra4,Cerrone Marina4,Zhang Mingliang4,Lin Xianming4,Lin Bin4,Rothenberg Eli5,Sobreira Nara L.6,Amat-Alarcon Nuria1,Marsman Roos F.7,Murray Brittney1,Tichnell Crystal1,van der Heijden Jeroen F.2,Dooijes Dennis8,van Veen Toon A.B.9,Tandri Harikrishna1,Fowler Steven J.4,Hauer Richard N.W.23,Tomaselli Gordon1,van den Berg Maarten P.10,Taylor Matthew R.G.11,Brun Francesca12,Sinagra Gianfranco12,Wilde Arthur A.M.7,Mestroni Luisa11,Bezzina Connie R.7,Calkins Hugh1,Peter van Tintelen J.101314,Bu Lei14,Delmar Mario14,Judge Daniel P.1

Affiliation:

1. Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, 1800 Orleans Street, Baltimore, MD, USA

2. Division of Cardiology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, the Netherlands

3. Netherlands Heart Institute, Moreelsepark 1, Utrecht, the Netherlands

4. Leon H. Charney Division of Cardiology, New York University School of Medicine, 550 First Avenue, New York, NY, USA

5. Department of Biochemistry and Molecular Pharmacology, NYU-SoM, 522 First Avenue, MSB 3rd Floor, New York, New York 10016, USA

6. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD, USA

7. Heart Centre, Department of Clinical and Experimental Cardiology, Academic Medical Center, Meibergdreef 9, Amsterdam, the Netherlands

8. Department of Medical Genetics, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, the Netherlands

9. Department of Medical Physiology, Division of Heart and Lungs, University Medical Center Utrecht, Yalelaan 50, Utrecht, the Netherlands

10. Department of Cardiology, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Groningen, the Netherlands

11. Cardiovascular Institute and Adult Medical Genetics, University of Colorado Denver, 12605 E 16th Avenue, Aurora, CO, USA

12. Cardiovascular Department, Ospedali Riuniti and University of Trieste, Via Farneto 3, Trieste, Italy

13. Department of Clinical Genetics, Academic Medical Center Amsterdam, University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands

14. Department of Genetics, University of Groningen, University Medical Center Groningen, Hanzeplein 1, Groningen, the Netherlands

Funder

National Institutes of Health

Dutch Heart Foundation

Royal Netherlands Academy of Sciences

American Heart Association

Publisher

Oxford University Press (OUP)

Subject

Physiology (medical),Cardiology and Cardiovascular Medicine,Physiology

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