Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
Abstract
Mutations in ion channels involved in the generation and termination of action potentials constitute a family of molecular defects that underlie fatal cardiac arrhythmias in inherited long-QT syndrome. We report here that a loss-of-function (E1425G) mutation in ankyrin-B (also known as ankyrin 2), a member of a family of versatile membrane adapters, causes dominantly inherited type 4 long-QT cardiac arrhythmia in humans. Mice heterozygous for a null mutation in ankyrin-B are haploinsufficient and display arrhythmia similar to humans. Mutation of ankyrin-B results in disruption in the cellular organization of the sodium pump, the sodium/calcium exchanger, and inositol-1,4,5-trisphosphate receptors (all ankyrin-B-binding proteins), which reduces the targeting of these proteins to the transverse tubules as well as reducing overall protein level. Ankyrin-B mutation also leads to altered Ca2+ signalling in adult cardiomyocytes that results in extrasystoles, and provides a rationale for the arrhythmia. Thus, we identify a new mechanism for cardiac arrhythmia due to abnormal coordination of multiple functionally related ion channels and transporters.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Mouse models with ANK2 disruption show neurological and cardiac phenotypes.
“Consistently, neurological (76) and cardiac (77,78) phenotypes have been described in mouse models with a disruption of this gene.”
From Genetics and genomics of autism spectrum disorder: embracing complexity (2015) · cites this paper as [78]
Cites
Sodium/Calcium Exchange: Its Physiological Implications
Blaustein, M. P., & Lederer, W. J. (1999) · Physiological Reviews · doi:10.1152/physrev.1999.79.3.763 · Cited by 1,736 · see citing works
Self-citationExcitation-Contraction Coupling and Cardiac Contractile Force
Bers, D. M., & Zhu, Y. (2010) · Journal of Cardiovascular Disease Research · doi:10.1016/s0975-3583(10)11011-0 · Cited by 1,606 · see citing works
Excitation-Contraction Coupling and Cardiac Contractile Force
Bers, D. M. (2001) · Developments in cardiovascular medicine · doi:10.1007/978-94-010-0658-3 · Cited by 1,543 · see citing works
Molecular and Cellular Mechanisms of Cardiac Arrhythmias
Keating, M. T., & Sanguinetti, M. C. (2001) · Cell · doi:10.1016/s0092-8674(01)00243-4 · Cited by 1,003 · see citing works
Spectrin and ankyrin-based pathways: metazoan inventions for integrating cells into tissues.
Bennett, V., & Baines, A. (2001) · Physiological Reviews · doi:10.1152/physrev.2001.81.3.1353 · Cited by 993 · see citing works
Self-citationExcitation-Contraction Coupling and Cardiac Contractile Force
Bers, D. M. (1993) · Developments in cardiovascular medicine · doi:10.1007/978-94-017-1512-6 · Cited by 777 · see citing works
Defective Excitation-Contraction Coupling in Experimental Cardiac Hypertrophy and Heart Failure
Gomez, A. M., Valdivia, H. H., Cheng, H., Lederer, M. R., Santana, L. F., Cannell, M. B., McCune, S. A., Altschuld, R. A., & Lederer, W. J. (1997) · Science · doi:10.1126/science.276.5313.800 · Cited by 758 · see citing works
Self-citationKass, R. S., Lederer, W. J., Tsien, R. W., & Weingart, R. (1978) · The Journal of Physiology · doi:10.1113/jphysiol.1978.sp012416 · Cited by 633 · see citing works
Self-citationZhou, D., Lambert, S., Malen, P. L., Carpenter, S., Boland, L. M., & Bennett, V. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.143.5.1295 · Cited by 568 · see citing works
Self-citationSodium-Calcium Exchange: A Molecular Perspective
Philipson, K. D., & Nicoll, D. A. (2000) · Annual Review of Physiology · doi:10.1146/annurev.physiol.62.1.111 · Cited by 540 · see citing works
Measurement of heart rate and Q-T interval in the conscious mouse
Mitchell, G. F., Jeron, A., & Koren, G. (1998) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.1998.274.3.h747 · Cited by 539 · see citing works
Jenkins, S. M., & Bennett, V. (2001) · The Journal of Cell Biology · doi:10.1083/jcb.200109026 · Cited by 446 · see citing works
Self-citationPapadatos, G., Wallerstein, P. M. R., Head, C., Ratcliff, R. A., Brady, P. A., Benndorf, K., Saumarez, R. C., Trezise, A. E. O., Huang, C. L.-H., Vandenberg, J. I., et al. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.082121299 · Cited by 386 · see citing works
Mapping of a gene for long QT syndrome to chromosome 4q25-27.
Schott, J., Charpentier, F., Peltier, S., Foley, P., Drouin, E., Bouhour, J. B., Donnelly, P., Vergnaud, G., Bachner, L., & Moisan, J. (1995) · Europe PMC (PubMed Central) · Cited by 353 · see citing works
Self-citationTargeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange– Nielsen Syndrome
Casimiro, M. C., Knollmann, B. C., Ebert, S. N., Vary, J. C., Greene, A. E., Franz, M. R., Grinberg, A., Huang, S. P., & Pfeifer, K. E. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.041398998 · Cited by 260 · see citing works
In Vivo Cardiac Electrophysiology Studies in the Mouse
Berul, C. I., Aronovitz, M. J., Wang, P. J., & Mendelsohn, M. E. (1996) · Circulation · doi:10.1161/01.cir.94.10.2641 · Cited by 229 · see citing works
Marks, A. R., Priori, S. G., Memmi, M., KONTULA, K. K., & Laitinen-Forsblom, P. J. (2001) · Journal of Cellular Physiology · doi:10.1002/jcp.10031 · Cited by 205 · see citing works
Afterdepolarizations and triggered activity
Fozzard, H. A. (1992) · Steinkopff eBooks · doi:10.1007/978-3-642-72477-0_10 · Cited by 200 · see citing works
Scotland, P., Zhou, D., Benveniste, H., & Bennett, V. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.143.5.1305 · Cited by 185 · see citing works
Self-citationThe Na + -Ca 2+ Exchanger Is Essential for the Action of Cardiac Glycosides
Reuter, H., Henderson, S. A., Han, T.-Y., Ross, R. S., Goldhaber, J. I., & Philipson, K. D. (2002) · Circulation Research · doi:10.1161/hh0302.104562 · Cited by 179 · see citing works
London, B., Jeron, A., Zhou, J., Buckett, P. D., Han, X., Mitchell, G. F., & Koren, G. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.6.2926 · Cited by 173 · see citing works
Ca 2+ Flux Through Promiscuous Cardiac Na + Channels: Slip-Mode Conductance
Santana, L. F., Gomez, A. M., & Lederer, W. J. (1998) · Science · doi:10.1126/science.279.5353.1027 · Cited by 166 · see citing works
Self-citationBourguignon, L., Jin, H., Iida, N., Brandt, N. R., & Zhang, S. H. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)53175-6 · Cited by 165 · see citing works
Santana, L. F., Kranias, E. G., & Lederer, W. J. (1997) · The Journal of Physiology · doi:10.1111/j.1469-7793.1997.021bi.x · Cited by 142 · see citing works
Self-citationAnkyrin-B Is Required for Intracellular Sorting of Structurally Diverse Ca2+ Homeostasis Proteins
Tuvia, S., Buhusi, M., Davis, L., Reedy, M., & Bennett, V. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.147.5.995 · Cited by 127 · see citing works
Self-citationMolecular biology and the prolonged QT syndromes
Towbin, J. A., & Vatta, M. (2001) · The American Journal of Medicine · doi:10.1016/s0002-9343(00)00715-4 · Cited by 113 · see citing works
Mohler, P. J., Gramolini, A. O., & Bennett, V. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m110958200 · Cited by 113 · see citing works
Self-citationduBell, W. H., Lederer, W. J., & Rogers, T. B. (1996) · The Journal of Physiology · doi:10.1113/jphysiol.1996.sp021423 · Cited by 86 · see citing works
Self-citationMohler, P. J., Gramolini, A. O., & Bennett, V. (2002) · Journal of Cell Science · doi:10.1242/jcs.115.8.1565 · Cited by 71 · see citing works
Self-citationLande, G. (2001) · Cardiovascular Research · doi:10.1016/s0008-6363(01)00232-2 · Cited by 37 · see citing works
Itokawa, K., Sora, I., Schindler, C. W., Itokawa, M., Takahashi, N., & Uhl, G. R. (1999) · Molecular Brain Research · doi:10.1016/s0169-328x(99)00194-1 · Cited by 27 · see citing works
Venugopal, B. (2001) · Cardiovascular Research · doi:10.1016/s0008-6363(00)00271-6 · Cited by 25 · see citing works
Im, Y., Won, J., Suh, H., Huh, S., Kim, Y., & Song, D. ‐. (1998) · Journal of Autonomic Pharmacology · doi:10.1046/j.1365-2680.1998.1830149.x · Cited by 15 · see citing works
Frank, J. S., & Garfinkel, A. (1997) · Elsevier eBooks · doi:10.1016/b978-012436570-4/50003-0 · Cited by 2 · see citing works
Flagged first, then by citations
1 of the 35 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Drug-induced prolongation of the QT interval
Roden, D. M. (2004) · New England Journal of Medicine · doi:10.1056/nejmra032426 · Cited by 1,965 · see citing works
Zipes, D. P., Camm, A. J., Borggrefe, M., Buxton, A. E., CHAITMAN, B. R., FROMER, M. A., Gregoratos, G., Klein, G. J., Myerburg, R. J., Quiñones, M. A., et al. (2006) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2006.07.010 · Cited by 1,963 · see citing works
Malik, R., Chauhan, G., Traylor, M., Sargurupremraj, M., Okada, Y., Mishra, A., Rutten‐Jacobs, L. C. A., Giese, A., van der Laan, S. W., Grétarsdóttir, S., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0058-3 · Cited by 1,566 · see citing works
Inositol Trisphosphate Receptor Ca<sup>2+</sup>Release Channels
Foskett, J. K., White, C., Cheung, K.-H., & Mak, D.-O. D. (2007) · Physiological Reviews · doi:10.1152/physrev.00035.2006 · Cited by 1,188 · see citing works
Zipes, D. P., Camm, A. J., Borggrefe, M., Buxton, A. E., Chaitman, B., Fromer, M., Gregoratos, G., Klein, G., Moss, A. J., Myerburg, R. J., et al. (2006) · Circulation · doi:10.1161/circulationaha.106.178233 · Cited by 1,080 · see citing works
Molecular Physiology of Cardiac Repolarization
Nerbonne, J. M., & Kass, R. S. (2005) · Physiological Reviews · doi:10.1152/physrev.00002.2005 · Cited by 1,054 · see citing works
Wehrens, X. H. T., Lehnart, S. E., Huang, F., Vest, J. A., Reiken, S. R., Mohler, P. J., Sun, J., Guatimosim, S., Song, L., Rosemblit, N., et al. (2003) · Cell · doi:10.1016/s0092-8674(03)00434-3 · Cited by 760 · see citing works
Self-citationZipes, D. P., Camm, A. J., Borggrefe, M., Buxton, A. E., CHAITMAN, B. R., FROMER, M. A., Gregoratos, G., Klein, G. J., Moss, A. J., Myerburg, R. J., et al. (2006) · EP Europace · doi:10.1093/europace/eul108 · Cited by 735 · see citing works
Sudden Cardiac Death Prediction and Prevention
Fishman, G. I., Chugh, S. S., Dimarco, J., Albert, C. M., Anderson, M. E., Bonow, R. O., Buxton, A. E., Chen, P., Estes, M., Jouven, X., et al. (2010) · Circulation · doi:10.1161/circulationaha.110.976092 · Cited by 609 · see citing works
Tester, D. J., Will, M. L., Haglund, C. M., & Ackerman, M. J. (2005) · Heart Rhythm · doi:10.1016/j.hrthm.2005.01.020 · Cited by 560 · see citing works
Mutant Caveolin-3 Induces Persistent Late Sodium Current and Is Associated With Long-QT Syndrome
Vatta, M., Ackerman, M. J., Ye, B., Makielski, J. C., Ughanze, E. E., Taylor, E. W., Tester, D. J., Balijepalli, R. C., Foell, J. D., Li, Z., et al. (2006) · Circulation · doi:10.1161/circulationaha.106.635268 · Cited by 554 · see citing works
Recent advances in the molecular pathophysiology of atrial fibrillation
Wakili, R., Voigt, N., Kääb, S., Dobrev, D., & Nattel, S. (2011) · Journal of Clinical Investigation · doi:10.1172/jci46315 · Cited by 543 · see citing works
Mechanisms of sudden cardiac death
Rubart, M. (2005) · Journal of Clinical Investigation · doi:10.1172/jci26381 · Cited by 503 · see citing works
Protection from Cardiac Arrhythmia Through Ryanodine Receptor-Stabilizing Protein Calstabin2
Wehrens, X. H. T., Lehnart, S. E., Reiken, S. R., Deng, S., Vest, J. A., Cervantes, D. O., Coromilas, J., Landry, D. W., & Marks, A. R. (2004) · Science · doi:10.1126/science.1094301 · Cited by 482 · see citing works
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
Kozyrev, S. V., Abelson, A.-K., Wojcik, J., Zaghlool, A., Reddy, M., Sánchez, E., Gunnarsson, I., Svenungsson, E., Sturfelt, G. K., Jönsen, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.79 · Cited by 474 · see citing works
Overview of Basic Mechanisms of Cardiac Arrhythmia
Antzelevitch, C. N., & Burashnikov, A. (2011) · Cardiac Electrophysiology Clinics · doi:10.1016/j.ccep.2010.10.012 · Cited by 472 · see citing works
Genetic Testing in the Long QT Syndrome
Napolitano, C., Priori, S. G., Schwartz, P. J., Bloise, R., Ronchetti, E., Nastoli, J., Bottelli, G., Cerrone, M., & Leonardi, S. (2005) · JAMA · doi:10.1001/jama.294.23.2975 · Cited by 464 · see citing works
Kapplinger, J. D., Tester, D. J., Salisbury, B. A., Carr, J. L., Harris‐Kerr, C., Pollevick, G. D., Wilde, A. A. M., & Ackerman, M. J. (2009) · Heart Rhythm · doi:10.1016/j.hrthm.2009.05.021 · Cited by 450 · see citing works
Kannankeril, P. J., Roden, D. M., & Darbar, D. (2010) · Pharmacological Reviews · doi:10.1124/pr.110.003723 · Cited by 441 · see citing works
Inositol 1,4,5-Trisphosphate Receptors as Signal Integrators
Patterson, R. L., Boehning, D. F., & Snyder, S. H. (2004) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.73.071403.161303 · Cited by 438 · see citing works
London, B., Michalec, M., Mehdi, H., Zhu, X., Kerchner, L., Sanyal, S., Viswanathan, P. C., Pfahnl, A. E., Shang, L. L., Madhusudanan, M., et al. (2007) · Circulation · doi:10.1161/circulationaha.107.703330 · Cited by 437 · see citing works
The genetic basis of long QT and short QT syndromes: A mutation update
Hedley, P. L., Jørgensen, P., Schlamowitz, S., Wangari, R., Moolman‐Smook, J. C., Brink, P. A., Kanters, J. K., Corfield, V. A., & Christiansen, M. (2009) · Human Mutation · doi:10.1002/humu.21106 · Cited by 422 · see citing works
Behr, E. R., Dalageorgou, C., Christiansen, M., Syrris, P., Hughes, S., Tome, M., Rowland, E., Jeffery, S., & McKenna, W. J. (2008) · European Heart Journal · doi:10.1093/eurheartj/ehn219 · Cited by 417 · see citing works
Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice
Lehnart, S. E., Mongillo, M., Bellinger, A. M., Lindegger, N., Chen, B.-X., HSUEH, W. H., Reiken, S. R., Wronska, A., Drew, L., Ward, C. W., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci35346 · Cited by 413 · see citing works
Self-citationWilde, A. A. M., Semsarian, C., Márquez, M. F., Shamloo, A. S., Ackerman, M. J., Ashley, E. A., Sternick, E. B., Barajas-Martínez, H., Behr, E. R., Bezzina, C. R., et al. (2022) · EP Europace · doi:10.1093/europace/euac030 · Cited by 399 · see citing works
Brugada, J., Blom, N. A., Sarquella‐Brugada, G., Blomström‐Lundqvist, C., Deanfield, J. E., Janoušek, J., Abrams, D. J., Bauersfeld, U., Brugada, R., Drago, F., et al. (2013) · EP Europace · doi:10.1093/europace/eut082 · Cited by 397 · see citing works
Identifying genetic risk factors for serious adverse drug reactions: current progress and challenges
Wilke, R. A., Lin, D. W., Roden, D. M., Watkins, P. B., Flockhart, D. A., Zineh, I., Giacomini, K. M., & Krauss, R. M. (2007) · Nature Reviews Drug Discovery · doi:10.1038/nrd2423 · Cited by 394 · see citing works
Adler, A., Novelli, V., Amin, A. S., Abiusi, E., Care, M. E., Nannenberg, E. A., Feilotter, H. E., Amenta, S., Mazzà, D., Bikker, H., et al. (2020) · Circulation · doi:10.1161/circulationaha.119.043132 · Cited by 391 · see citing works
Identification of a KCNE2 Gain-of-Function Mutation in Patients with Familial Atrial Fibrillation
Yang, Y., Xia, M., Jin, Q., Bendahhou, S., Shi, J., Chen, Y., Liang, B., Lin, J., Liu, Y., Liu, B., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/425342 · Cited by 388 · see citing works
FXYD proteins: new regulators of Na-K-ATPase
Geering, K. (2006) · American Journal of Physiology-Renal Physiology · doi:10.1152/ajprenal.00126.2005 · Cited by 372 · see citing works
Mohler, P. J., Rivolta, I., Napolitano, C., Lemaillet, G., Lambert, S., Priori, S. G., & Bennett, V. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0403711101 · Cited by 359 · see citing works
Self-citationPostmortem Long QT Syndrome Genetic Testing for Sudden Unexplained Death in the Young
Tester, D. J., & Ackerman, M. J. (2006) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2006.10.010 · Cited by 355 · see citing works
ter Keurs, H. E. D. J., & Boyden, P. A. (2007) · Physiological Reviews · doi:10.1152/physrev.00011.2006 · Cited by 353 · see citing works
Genetic Testing for Long-QT Syndrome
Kapa, S., Tester, D. J., Salisbury, B. A., Harris‐Kerr, C., Pungliya, M. S., Alders, M. M., Wilde, A. A. M., & Ackerman, M. J. (2009) · Circulation · doi:10.1161/circulationaha.109.863076 · Cited by 345 · see citing works
Drug‐Induced Torsades de Pointes and Implications for Drug Development
Fenichel, R. R., Malík, M., Antzelevitch, C. N., Sanguinetti, M. C., Roden, D. M., Priori, S. G., Ruskin, J. N., Lipicky, R. J., Cantilena, L. R., & Independent Academic Task Force (2004) · Journal of Cardiovascular Electrophysiology · doi:10.1046/j.1540-8167.2004.03534.x · Cited by 343 · see citing works
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function
Mohler, P. J., Splawski, I., Napolitano, C., Bottelli, G., Sharpe, L. M., Timothy, K. W., Priori, S. G., Keating, M. T., & Bennett, V. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0402546101 · Cited by 323 · see citing works
Self-citationThe WAVE regulatory complex links diverse receptors to the actin cytoskeleton
Chen, B., Brinkmann, K., Chen, Z., Pak, C. W., Liao, Y., Shi, S., Henry, L., Grishin, N. V., Bogdan, S., & Rosen, M. K. (2014) · Cell · doi:10.1016/j.cell.2013.11.048 · Cited by 323 · see citing works
Crotti, L., Celano, G., Dagradi, F., & Schwartz, P. J. (2008) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-3-18 · Cited by 311 · see citing works
The QT syndromes: long and short
Morita, H., Wu, J., & Zipes, D. P. (2008) · The Lancet · doi:10.1016/s0140-6736(08)61307-0 · Cited by 311 · see citing works
Predicting drug–hERG channel interactions that cause acquired long QT syndrome
Sanguinetti, M. C., & Mitcheson, J. S. (2005) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2005.01.003 · Cited by 300 · see citing works
The cytoskeleton, cellular motility and the reductionist agenda
Pollard, T. D. (2003) · Nature · doi:10.1038/nature01598 · Cited by 300 · see citing works
Ackerman, M. J., Tester, D. J., Jones, G. S., Will, M. L., Burrow, C. R., & Curran, M. E. (2003) · Mayo Clinic Proceedings · doi:10.4065/78.12.1479 · Cited by 295 · see citing works
Long QT syndrome: from channels to cardiac arrhythmias
Moss, A. J. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25537 · Cited by 293 · see citing works
A rare variant in MYH6 is associated with high risk of sick sinus syndrome
Hólm, H., Gudbjartsson, D. F., Sulem, P., Másson, G., Helgadottir, H. T., Zanon, C., Magnússon, Ó. Þ., Helgason, A., Saemundsdottir, J., Gylfason, A., et al. (2011) · Nature Genetics · doi:10.1038/ng.781 · Cited by 293 · see citing works
Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy
Johnson, J. N., Hofman, N., Haglund, C. M., Cascino, G. D., Wilde, A. A. M., & Ackerman, M. J. (2008) · Neurology · doi:10.1212/01.wnl.0000335760.02995.ca · Cited by 281 · see citing works
Wilde, A. A. M., Semsarian, C., Márquez, M. F., Shamloo, A. S., Ackerman, M. J., Ashley, E. A., Sternick, E. B., Barajas-Martínez, H., Behr, E. R., Bezzina, C. R., et al. (2022) · Heart Rhythm · doi:10.1016/j.hrthm.2022.03.1225 · Cited by 281 · see citing works
Terentyev, D. A., Belevych, A. E., Terentyeva, R., Martin, M. M., Malana, G. E., Kuhn, D. E., Abdellatif, M., Feldman, D. S., Elton, T. S., & Györke, S. (2009) · Circulation Research · doi:10.1161/circresaha.108.181651 · Cited by 279 · see citing works
Paulussen, A. D. C., Gilissen, R. A. H. J., Armstrong, M., Doevendans, P. A., Verhasselt, P., Smeets, H. J. M., Schulze‐Bahr, E., Haverkamp, W., Breithardt, G., Cohen, N., et al. (2004) · Journal of Molecular Medicine · doi:10.1007/s00109-003-0522-z · Cited by 279 · see citing works
Spectrum and Frequency of Cardiac Channel Defects in Swimming-Triggered Arrhythmia Syndromes
Choi, G. R., Kopplin, L. J., Tester, D. J., Will, M. L., Haglund, C. M., & Ackerman, M. J. (2004) · Circulation · doi:10.1161/01.cir.0000144471.98080.ca · Cited by 271 · see citing works
Conditional Mineralocorticoid Receptor Expression in the Heart Leads to Life-Threatening Arrhythmias
Ouvrard‐Pascaud, A., Sainte–Marie, Y., Bénitah, J., Perrier, R., Soukaseum, C., Cat, A. N. D., Royer, A., Quang, K. L., Charpentier, F., Demolombe, S., et al. (2005) · Circulation · doi:10.1161/circulationaha.104.503706 · Cited by 271 · see citing works
Cardiac sodium channel Nav1.5 and interacting proteins: Physiology and pathophysiology
Abriel, H. (2009) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2009.08.025 · Cited by 268 · see citing works
Modulation of Cardiac Gap Junction Expression and Arrhythmic Susceptibility
Danik, S. B., Liu, F., Zhang, J., Suk, H. J., Morley, G. E., Fishman, G. I., & Gutstein, D. E. (2004) · Circulation Research · doi:10.1161/01.res.0000148664.33695.2a · Cited by 268 · see citing works
Physicochemical Features of the hERG Channel Drug Binding Site
Fernández, D., Ghanta, A., Kauffman, G. W., & Sanguinetti, M. C. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m310683200 · Cited by 267 · see citing works
Muscle KATPChannels: Recent Insights to Energy Sensing and Myoprotection
Flagg, T. P., Enkvetchakul, D., Koster, J. C., & Nichols, C. G. (2010) · Physiological Reviews · doi:10.1152/physrev.00027.2009 · Cited by 264 · see citing works
Antzelevitch, C. N. (2007) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00355.2007 · Cited by 263 · see citing works
McCrossan, Z. A., & Abbott, G. W. (2004) · Neuropharmacology · doi:10.1016/j.neuropharm.2004.06.018 · Cited by 254 · see citing works
Lehnart, S. E., Ackerman, M. J., Benson, D. W., Brugada, R., Clancy, C. E., Donahue, J. K., George, A. L., Grant, A. O., Groft, S. C., January, C. T., et al. (2007) · Circulation · doi:10.1161/circulationaha.107.711689 · Cited by 253 · see citing works
Self-citationInvolvement of lipid rafts and caveolae in cardiac ion channel function
Maguy, A., Hébert, T. E., & Nattel, S. (2006) · Cardiovascular Research · doi:10.1016/j.cardiores.2005.11.013 · Cited by 253 · see citing works
Mohler, P. J., Davis, J. Q., & Bennett, V. (2005) · PLoS Biology · doi:10.1371/journal.pbio.0030423 · Cited by 244 · see citing works
Self-citationIdentification of a Conserved Ankyrin-binding Motif in the Family of Sodium Channel α Subunits
Lemaillet, G., Walker, B. J., & Lambert, S. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m303327200 · Cited by 243 · see citing works
Smyth, J. W., Hong, T., Gao, D., Vogan, J. M., Jensen, B. C., Fong, T. S., Simpson, P. C., Stainier, D. Y. R., Chi, N. C., & Shaw, R. M. (2010) · Journal of Clinical Investigation · doi:10.1172/jci39740 · Cited by 243 · see citing works
A βIV-spectrin/CaMKII signaling complex is essential for membrane excitability in mice
Hund, T. J., Koval, O. M., Li, J., Wright, P. J., Qian, L., Snyder, J. S., Gudmundsson, H., Kline, C. F., Davidson, N. P., Cardona, N., et al. (2010) · Journal of Clinical Investigation · doi:10.1172/jci43621 · Cited by 243 · see citing works
Self-citationSema3a maintains normal heart rhythm through sympathetic innervation patterning
Ieda, M., Kanazawa, H., Kimura, K., Hattori, F., Ieda, Y., Taniguchi, M., Lee, J.-K., Matsumura, K., Tomita, Y., Miyoshi, S., et al. (2007) · Nature Medicine · doi:10.1038/nm1570 · Cited by 242 · see citing works
The congenital long QT syndromes from genotype to phenotype: clinical implications
Schwartz, P. J. (2005) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2005.01583.x · Cited by 236 · see citing works
Johnson, J. N., & Ackerman, M. J. (2009) · British Journal of Sports Medicine · doi:10.1136/bjsm.2008.054734 · Cited by 235 · see citing works
Cronk, L. B., Ye, B., Kaku, T., Tester, D. J., Vatta, M., Makielski, J. C., & Ackerman, M. J. (2006) · Heart Rhythm · doi:10.1016/j.hrthm.2006.11.030 · Cited by 232 · see citing works
Epinephrine QT Stress Testing in the Evaluation of Congenital Long-QT Syndrome
Vyas, H., Hejlik, J., & Ackerman, M. J. (2006) · Circulation · doi:10.1161/circulationaha.105.600445 · Cited by 227 · see citing works
Biology of Cardiac Arrhythmias
Delisle, B. P., Anson, B. D., Rajamani, S., & January, C. T. (2004) · Circulation Research · doi:10.1161/01.res.0000128561.28701.ea · Cited by 227 · see citing works
Ueda, K., Nakamura, K., Hayashi, T., Inagaki, N., Takahashi, M., Arimura, T., Morita, H., Higashiuesato, Y., Hirano, Y., Yasunami, M., et al. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m311953200 · Cited by 225 · see citing works
Locus for Atrial Fibrillation Maps to Chromosome 6q14–16
Ellinor, P. T., Shin, J. T., Moore, R. K., Yoerger, D. M., & MacRae, C. A. (2003) · Circulation · doi:10.1161/01.cir.0000077910.80718.49 · Cited by 222 · see citing works
Sinus Node and Atrial Arrhythmias
John, R. M., & Kumar, S. (2016) · Circulation · doi:10.1161/circulationaha.116.018011 · Cited by 219 · see citing works
Smits, J. P. P., Koopmann, T. T., Wilders, R., Veldkamp, M. W., Opthof, T., Bhuiyan, Z. A., Mannens, M. M. A. M., Balser, J. R., Tan, H. L., & Bezzina, C. R. (2005) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2005.02.024 · Cited by 215 · see citing works
Bartos, D. C., Grandi, E., & Ripplinger, C. M. (2015) · Comprehensive physiology · doi:10.1002/cphy.c140069 · Cited by 215 · see citing works
Predicting disease using genomics
Bell, J. I. (2004) · Nature · doi:10.1038/nature02624 · Cited by 214 · see citing works
Innovative approaches to anti-arrhythmic drug therapy
Nattel, S., & Carlsson, L. G. (2006) · Nature Reviews Drug Discovery · doi:10.1038/nrd2112 · Cited by 209 · see citing works
Genetics and genomics of autism spectrum disorder: embracing complexity
De Rubeis, S., & Buxbaum, J. D. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv273 · Cited by 208 · see citing works
Autonomic aspects of arrhythmogenesis: the enduring and the new
Verrier, R. L., & Antzelevitch, C. N. (2003) · Current Opinion in Cardiology · doi:10.1097/00001573-200401000-00003 · Cited by 208 · see citing works
Goldenberg, I., Zaręba, W., & Moss, A. J. (2008) · Current Problems in Cardiology · doi:10.1016/j.cpcardiol.2008.07.002 · Cited by 208 · see citing works
Recent advances in understanding sex differences in cardiac repolarization
James, A. F., Choisy, S. C. M., & Hancox, J. C. (2005) · Progress in Biophysics and Molecular Biology · doi:10.1016/j.pbiomolbio.2005.05.010 · Cited by 205 · see citing works
Zipes, D. P., Ackerman, M. J., Estes, N. A. M., Grant, A. O., Myerburg, R. J., & Hare, G. F. V. (2005) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2005.02.014 · Cited by 205 · see citing works
Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome
Yang, Y., Yang, Y., Liang, B., Liu, J., Li, J., Grunnet, M., Olesen, S., Rasmussen, H. B., Ellinor, P. T., Gao, L., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.017 · Cited by 199 · see citing works
Molecular Basis of Arrhythmias
Shah, M. H., Akar, F. G., & Tomaselli, G. F. (2005) · Circulation · doi:10.1161/circulationaha.104.494476 · Cited by 191 · see citing works
Cardiac T-Tubule Microanatomy and Function
Hong, T., & Shaw, R. M. (2016) · Physiological Reviews · doi:10.1152/physrev.00037.2015 · Cited by 191 · see citing works
Membrane Domains Based on Ankyrin and Spectrin Associated with Cell-Cell InteractionsPreprint
Bennett, V., & Healy, J. (2009) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a003012 · Cited by 191 · see citing works
Self-citationEmerging roles of inositol 1,4,5-trisphosphate signaling in cardiac myocytes
Kockskämper, J., Zima, A. V., Roderick, H. L., Pieske, B. M., Blatter, L. A., & Bootman, M. D. (2008) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2008.05.014 · Cited by 186 · see citing works
Ionic, molecular, and cellular bases of QT-interval prolongation and torsade de pointes
Antzelevitch, C. N. (2007) · EP Europace · doi:10.1093/europace/eum166 · Cited by 186 · see citing works
Effect of Clinical Phenotype on Yield of Long QT Syndrome Genetic Testing
Tester, D. J., Will, M. L., Haglund, C. M., & Ackerman, M. J. (2006) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2005.09.056 · Cited by 184 · see citing works
Organizing the fluid membrane bilayer: diseases linked to spectrin and ankyrin
Bennett, V., & Healy, J. A. (2007) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2007.11.005 · Cited by 184 · see citing works
Self-citationMultifocal Ectopic Purkinje-Related Premature Contractions
Laurent, G., Saal, S., Amarouch, M., Béziau, D. M., Marsman, R. F. J., Faivre, L. O., Barc, J., Dina, C., Bertaux, G., Barthez, O., et al. (2012) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2012.02.052 · Cited by 182 · see citing works
Self-citationHeterogeneity and cardiac arrhythmias: An overview
Antzelevitch, C. N. (2007) · Heart Rhythm · doi:10.1016/j.hrthm.2007.03.036 · Cited by 180 · see citing works
Pathophysiology and pharmacology of the cardiac “late sodium current”
Zaza, A., Belardinelli, L., & Shryock, J. C. (2008) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2008.06.001 · Cited by 177 · see citing works
Sodium channels as macromolecular complexes: Implications for inherited arrhythmia syndromes
Meadows, L. S., & Isom, L. L. (2005) · Cardiovascular Research · doi:10.1016/j.cardiores.2005.04.003 · Cited by 177 · see citing works
Ghosh, S., Nunziato, D. A., & Pitt, G. S. (2006) · Circulation Research · doi:10.1161/01.res.0000218863.44140.f2 · Cited by 173 · see citing works
Molecular Pathophysiology of Congenital Long QT Syndrome
Bohnen, M. S., Peng, G., Robey, S., Terrenoire, C., Iyer, V. R., Sampson, K. J., & Kass, R. S. (2016) · Physiological Reviews · doi:10.1152/physrev.00008.2016 · Cited by 173 · see citing works
Lu, Z., Wu, C. C., Jiang, Y., Ballou, L. M., Clausen, C., Cohen, I. S., & Lin, R. Z. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003623 · Cited by 172 · see citing works
Scouarnec, S. L., Bhasin, N., Vieyres, C., Hund, T. J., Cunha, S. R., Koval, O. M., Marionneau, C., Chen, B., Wu, Y., Demolombe, S., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0805500105 · Cited by 170 · see citing works
Self-citationVoltage-gated Nav channel targeting in the heart requires an ankyrin-G–dependent cellular pathway
Lowe, J. S., Palygin, O., Bhasin, N., Hund, T. J., Boyden, P. A., Shibata, E. F., Anderson, M. E., & Mohler, P. J. (2008) · The Journal of Cell Biology · doi:10.1083/jcb.200710107 · Cited by 170 · see citing works
Self-citationCardiac Arrest and Sudden Cardiac Death
Myerburg, R. J., & Castellanos, A. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0398-6.00041-x · Cited by 165 · see citing works
Defining the Cellular Phenotype of “Ankyrin-B Syndrome” Variants
Mohler, P. J., Scouarnec, S. L., Denjoy, I., Lowe, J. S., Guicheney, P., Caron, L., Driskell, I. M., Schott, J., NORRIS, K. J., Leenhardt, A., et al. (2007) · Circulation · doi:10.1161/circulationaha.106.656512 · Cited by 164 · see citing works
Self-citationGeorge, C. H., Jundi, H., Thomas, N. L., Fry, D. L., & Lai, F. A. (2006) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2006.08.115 · Cited by 163 · see citing works
- Authors
- Mohler, P. J., Schott, J.-J., Gramolini, A. O., Dilly, K. W., Guatimosim, S., duBell, W. H., Song, L.-S., Haurogné, K., Kyndt, F., Ali, M. E., Rogers, T. B., Lederer, W. J., Escande, D., Marec, H. L., & Bennett, V.
- Affiliations
- Howard Hughes Medical Institute (US)
- Inserm (FR)
- University of Maryland, Baltimore (US)
- Corresponding author
- Bennett, Vann
- ORCID
- Venue
- Nature
- Published
- 2003-02
- Volume
- 421
- Issue
- 6923
- Pages
- 634-639
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2115923216
- Cited by
- 957
- References
- 35
- Citations by year
- 2026: 8 · 2025: 7 · 2024: 14 · 2023: 19 · 2022: 23 · 2021: 19 · 2020: 18 · 2019: 22 · 2018: 22 · 2017: 29 · 2016: 27 · 2015: 33 · 2014: 30 · 2013: 56 · 2012: 55
- FWCI
- 63.04
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Institut National de la Santé et de la Recherche Médicale
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion channel regulation and function
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Ion Transport and Channel Regulation
- Keywords
- ankyrin-B, sudden cardiac death, cardiac arrhythmias, loss-of-function mutations, haploinsufficiency, Na+/K+-ATPase, Na+/Ca2+ exchanger, IP3 receptor, T-tubules, protein targeting, calcium signaling, extrasystoles
- MeSH terms
- Action Potentials, Sodium-Potassium-Exchanging ATPase, Animals, Bradycardia, Electrocardiography, Female, Heart, Heart Rate, Heterozygote, Humans, Long QT Syndrome, Male, Mutation, Myocardium, Pedigree, Phenotype, Protein Binding, Calcium Channels, Death, Sudden, Cardiac, Ankyrins, Receptors, Cytoplasmic and Nuclear, Patch-Clamp Techniques, Sodium-Calcium Exchanger, Calcium Signaling, Mice, Inositol 1,4,5-Trisphosphate Receptors
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review