Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

Authors/Task Force members, Elliott, P. M., Anastasakis, A., Borger, M. A., Borggrefe, M., Cecchi, F., Charron, P., Hagege, A. A., Lafont, A., Limongelli, G., et al. (2014) · European Heart Journal · doi:10.1093/eurheartj/ehu284 · Cited by 4,332

Contemporary Definitions and Classification of the Cardiomyopathies

Maron, B. J., Towbin, J. A., Thiene, G., Antzelevitch, C. N., Corrado, D., Arnett, D. K., Moss, A. J., Seidman, C. E., & Young, J. B. (2006) · Circulation · doi:10.1161/circulationaha.106.174287 · Cited by 3,424

Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases

Elliot, P. M., Andersson, B., Arbustini, E., Bilińska, Z. T., Cecchi, F., Charron, P., Dubourg, O., Kühl, U., Maisch, B., McKenna, W. J., et al. (2007) · European Heart Journal · doi:10.1093/eurheartj/ehm342 · Cited by 2,995

Truncations of titin causing dilated cardiomyopathy

Herman, D. S., Lam, L., Taylor, M. R. G., Wang, L., Teekakirikul, P., Christodoulou, D., Conner, L., DePalma, S. R., McDonough, B., Sparks, E., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1110186 · Cited by 1,485

A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation

Geisterfer-Lowrance, A. A. T., Kass, S., Tanigawa, G., Vosberg, H.-P., McKenna, W., Seidman, C. E., & Seidman, J. G. (1990) · Cell · doi:10.1016/0092-8674(90)90274-i · Cited by 1,380

Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases

Pinto, Y. M., Elliot, P. M., Arbustini, E., Adler, Y., Anastasakis, A., Böhm, M., Duboc, D., Gimeno, J. R., de Groote, P., Imazio, M., et al. (2016) · European Heart Journal · doi:10.1093/eurheartj/ehv727 · Cited by 1,122

Incidence, Causes, and Outcomes of Dilated Cardiomyopathy in Children

Towbin, J. A., Lowe, A. M., Colan, S. D., Sleeper, L. A., Orav, E. J., Clunie, S. K., Messere, J. E., Cox, G. F., Lurie, P. R., Hsu, D. T., et al. (2006) · JAMA · doi:10.1001/jama.296.15.1867 · Cited by 1,055

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

Hershberger, R. E., Hedges, D. J., & Morales, A. (2013) · Nature Reviews Cardiology · doi:10.1038/nrcardio.2013.105 · Cited by 1,036

The Epidemiology of Childhood Cardiomyopathy in Australia

Nugent, A. W., Daubeney, P. E. F., Chondros, P., Carlin, J. B., Cheung, M. M. H., Wilkinson, L. C., Davis, A. M., Kahler, S. G., Chow, C. W., Wilkinson, J. L., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa021737 · Cited by 782

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

Walsh, R., Thomson, K. L., Ware, J. S., Funke, B., Woodley, J., McGuire, K., Mazzarotto, F., Blair, E. M., Seller, A., Taylor, J. C., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.90 · Cited by 735

Mutations in Sarcomere Protein Genes as a Cause of Dilated Cardiomyopathy

Kamisago, M., Sharma, S. D., DePalma, S. R., Solomon, S., Sharma, P., McDonough, B., Smoot, L., Mullen, M. P., Woolf, P. K., Wigle, E. D., et al. (2000) · New England Journal of Medicine · doi:10.1056/nejm200012073432304 · Cited by 720

A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice

Green, E. M., Wakimoto, H., Anderson, R. L., Evanchik, M. J., Gorham, J., Harrison, B. C., Henze, M., Kawas, R. F., Oslob, J. D., Rodrı́guez, H. M., et al. (2016) · Science · doi:10.1126/science.aad3456 · Cited by 708

Cardiomyocyte Maturation: New Phase in Development

Guo, Y., & Pu, W. T. (2020) · Circulation Research · doi:10.1161/circresaha.119.315862 · Cited by 653

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

Hinson, J. T., Chopra, A., Nafissi, N., Polacheck, W. J., Benson, C. C., Swist, S., Gorham, J., Yang, L., Schafer, S., Sheng, C. C., et al. (2015) · Science · doi:10.1126/science.aaa5458 · Cited by 638

Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies

Ware, J. S., Li, J., Mazaika, E., Yasso, C. M., DeSouza, T., Cappola, T. P., Tsai, E. J., Hilfiker‐Kleiner, D., Kamiya, C., Mazzarotto, F., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1505517 · Cited by 625

Dilated Cardiomyopathy and Heart Failure Caused by a Mutation in Phospholamban

Schmitt, J. P., Kamisago, M., Asahi, M., Li, G. H., Ahmad, F., Mende, U., Kranias, E. G., MacLennan, D. H., Seidman, J. G., & Seidman, C. E. (2003) · Science · doi:10.1126/science.1081578 · Cited by 619

Cardiac Myosin Activation: A Potential Therapeutic Approach for Systolic Heart Failure

Malik, F. I., Hartman, J. J., Elias, K. A., Morgan, B. P., Rodrı́guez, H. M., Brejc, K., Anderson, R. L., Sueoka, S. H., Lee, K. H., Finer, J. T., et al. (2011) · Science · doi:10.1126/science.1200113 · Cited by 586

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

Roberts, A. M., Ware, J. S., Herman, D. S., Schäfer, S., Baksi, J. A., Bick, A. G., Buchan, R. J., Walsh, R., John, S., Wilkinson, S., et al. (2015) · Science Translational Medicine · doi:10.1126/scitranslmed.3010134 · Cited by 502

Genetic mutations and mechanisms in dilated cardiomyopathy

McNally, E. M., Golbus, J. R., & Puckelwartz, M. J. (2013) · Journal of Clinical Investigation · doi:10.1172/jci62862 · Cited by 482

Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β

Teekakirikul, P., Eminaga, S., Toka, O., Alcalai, R., Wang, L., Wakimoto, H., Nayor, M. G., Konno, T., Gorham, J., Wolf, C. M., et al. (2010) · Journal of Clinical Investigation · doi:10.1172/jci42028 · Cited by 456

Hypertrophic cardiomyopathy: the interrelation of disarray, fibrosis, and small vessel disease

Varnava, A. M., Elliott, P. M., Sharma, S., McKenna, W. J., & Davies, M. J. (2000) · Heart · doi:10.1136/heart.84.5.476 · Cited by 442

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy

Crilley, J. G., Boehm, E. A., Blair, E. M., Rajagopalan, B., Blamire, A. M., Styles, P., McKenna, W. J., Östman‐Smith, I., Clarke, K., & Watkins, H. C. (2003) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(02)03009-7 · Cited by 437

Assessment of Diastolic Function With Doppler Tissue Imaging to Predict Genotype in Preclinical Hypertrophic Cardiomyopathy

Ho, C. Y., Sweitzer, N. K., McDonough, B. A., Maron, B. J., Casey, S. A., Seidman, J. G., Seidman, C. E., & Solomon, S. D. (2002) · Circulation · doi:10.1161/01.cir.0000019070.70491.6d · Cited by 420

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

Alfares, A. A., Kelly, M. A., McDermott, G., Funke, B. H., Lebo, M. S., Baxter, S. B., Shen, J., McLaughlin, H. M., Clark, E. H., Babb, L. J., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2014.205 · Cited by 412

Deciphering the super relaxed state of human β-cardiac myosin and the mode of action of mavacamten from myosin molecules to muscle fibers

Anderson, R. L., Trivedi, D. V., Sarkar, S. S., Henze, M., Ma, W., Gong, H. M., Rogers, C. S., Gorham, J., Wong, F. L., Morck, M. M., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1809540115 · Cited by 410

Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults

Morita, H., Rehm, H. L., Menesses, A., McDonough, B. A., Roberts, A. E., Kucherlapati, R., Towbin, J. A., Seidman, J. G., & Seidman, C. E. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075463 · Cited by 404

Elevated Cytosolic Na + Decreases Mitochondrial Ca 2+ Uptake During Excitation-Contraction Coupling and Impairs Energetic Adaptation in Cardiac Myocytes

Maack, C., Cortassa, S. C., Aon, M. A., Ganesan, A. N., Liu, T., & O'Rourke, B. P. (2006) · Circulation Research · doi:10.1161/01.res.0000232546.92777.05 · Cited by 369

Titin-truncating variants affect heart function in disease cohorts and the general population

Schäfer, S., de Marvao, A., Adami, E., Fiedler, L. R., Ng, B., Khin, E. S. W., Rackham, O. J. L., van Heesch, S., Pua, C. J., Kui, M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3719 · Cited by 360

Genetic Variants Associated With Cancer Therapy–Induced Cardiomyopathy

García‐Pavía, P., Kim, Y., Restrepo-Córdoba, M. A., Lunde, I. G., Wakimoto, H., Smith, A. M., Toepfer, C. N., Getz, K., Gorham, J., Patel, P. N., et al. (2019) · Circulation · doi:10.1161/circulationaha.118.037934 · Cited by 357

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

Ashrafian, H., Redwood, C. S., Blair, E. M., & Watkins, H. C. (2003) · Trends in Genetics · doi:10.1016/s0168-9525(03)00081-7 · Cited by 351

Mechanoenzymatics of titin kinase

Puchner, E. M., Alexandrovich, A., Kho, A. L., Hensen, U., Schäfer, L. V., Brandmeier, B., Gräter, F., Grubmüller, H., Gaub, H. E., & Gautel, M. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0805034105 · Cited by 347

Clinical Spectrum of SCN5A Mutations

Wilde, A. A. M., & Amin, A. S. (2018) · JACC. Clinical electrophysiology · doi:10.1016/j.jacep.2018.03.006 · Cited by 344

The NH2 Terminus of Titin Spans the Z-Disc: Its Interaction with a Novel 19-kD Ligand (T-cap) Is Required for Sarcomeric Integrity

Gregorio, C. C., Trombitás, K., Centner, T., Kolmerer, B., Stier, G., Kunke, K., Suzuki, K., Obermayr, F., Herrmann, B. G., Granzier, H. L. M., et al. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.143.4.1013 · Cited by 328

Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy

van Dijk, S. J., Dooijes, D., dos Remedios, C. G., Michels, M., Lamers, J. M. J., Winegrad, S., Schlossarek, S., Carrier, L., ten Cate, F. J., Stienen, G. J. M., et al. (2009) · Circulation · doi:10.1161/circulationaha.108.838672 · Cited by 328

Genetic Etiology for Alcohol-Induced Cardiac Toxicity

Ware, J. S., Amor‐Salamanca, A., Tayal, U., Govind, R., Serrano, I., Salazar‐Mendiguchía, J., García‐Pinilla, J. M., Pascual-Figal, D. A., Núñez, J. E., Guzzo-Merello, G., et al. (2018) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2018.03.462 · Cited by 321

Chronic Oral Study of Myosin Activation to Increase Contractility in Heart Failure (COSMIC-HF): a phase 2, pharmacokinetic, randomised, placebo-controlled trial

Teerlink, J. R., Felker, G. M., McMurray, J. J. V., Solomon, S. D., Adams, K. F., Cleland, J. G. F., Ezekowitz, J. A., Goudev, A., Macdonald, P. S., Metra, M., et al. (2016) · The Lancet · doi:10.1016/s0140-6736(16)32049-9 · Cited by 291

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

Dhandapany, P. S., Sadayappan, S., Xue, Y., Powell, G. T., Rani, D. S., Nallari, P., Singh, T., Khullar, M., Soares, P. A., Bahl, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.309 · Cited by 286

Tissue Doppler Imaging Predicts the Development of Hypertrophic Cardiomyopathy in Subjects With Subclinical Disease

Nagueh, S. F., McFalls, J., Meyer, D., Hill, R., Zoghbi, W. A., Tam, J. W., Quiñones, M. A., Roberts, R., & Marian, A. J. (2003) · Circulation · doi:10.1161/01.cir.0000084500.72232.8d · Cited by 275

Phosphorylation and function of cardiac myosin binding protein-C in health and disease

Barefield, D. Y., & Sadayappan, S. (2009) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2009.11.014 · Cited by 273

Identifying Sarcomere Gene Mutations in Hypertrophic Cardiomyopathy: A Personal History

Seidman, C. E., & Seidman, J. G. (2011) · Circulation Research · doi:10.1161/circresaha.110.223834 · Cited by 271

Hypertrophic and Dilated Cardiomyopathy: Four Decades of Basic Research on Muscle Lead to Potential Therapeutic Approaches to These Devastating Genetic Diseases

Spudich, J. A. (2014) · Biophysical Journal · doi:10.1016/j.bpj.2014.02.011 · Cited by 269

Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy

Spindler, M., Saupe, K. W., Christe, M. E., Sweeney, H. L., Seidman, C. E., Seidman, J. G., & Ingwall, J. S. (1998) · Journal of Clinical Investigation · doi:10.1172/jci1940 · Cited by 268

Muscle Giants: Molecular Scaffolds in Sarcomerogenesis

Kontrogianni‐Konstantopoulos, A., Ackermann, M. A., Bowman, A. L., Yap, S. V., & Bloch, R. J. (2009) · Physiological Reviews · doi:10.1152/physrev.00017.2009 · Cited by 268

T1 Measurements Identify Extracellular Volume Expansion in Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers With and Without Left Ventricular Hypertrophy

Ho, C. Y., Abbasi, S. A., Neilan, T. G., Shah, R. V., Chen, Y., Heydari, B., Cirino, A. L., Lakdawala, N. K., Orav, E. J., González, A., et al. (2013) · Circulation Cardiovascular Imaging · doi:10.1161/circimaging.112.000333 · Cited by 259

A New State of Cardiac Myosin with Very Slow ATP Turnover: A Potential Cardioprotective Mechanism in the Heart

Hooijman, P. E., Stewart, M. A., & Cooke, R. (2011) · Biophysical Journal · doi:10.1016/j.bpj.2011.02.061 · Cited by 259

T1 Mapping in Discrimination of Hypertrophic Phenotypes: Hypertensive Heart Disease and Hypertrophic Cardiomyopathy

Hinojar, R., Varma, N., Child, N., Goodman, B., Jabbour, A., Yu, C.-Y., Gebker, R., Doltra, A., Kelle, S., Khan, S., et al. (2015) · Circulation Cardiovascular Imaging · doi:10.1161/circimaging.115.003285 · Cited by 253

A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy

Davis, J., Davis, L. C., Correll, R. N., Makarewich, C. A., Schwanekamp, J. A., Moussavi‐Harami, F., Wang, D., York, A. J., Wu, H., Houser, S. R., et al. (2016) · Cell · doi:10.1016/j.cell.2016.04.002 · Cited by 249

Evidence From Human Myectomy Samples That MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency

Marston, S. B., Copeland, O., Jacques, A. M., Livesey, K., Tsang, V. T., McKenna, W. J., Jalilzadeh, S., Carballo, S., Redwood, C. S., & Watkins, H. C. (2009) · Circulation Research · doi:10.1161/circresaha.109.202440 · Cited by 238

Acute Treatment With Omecamtiv Mecarbil to Increase Contractility in Acute Heart Failure

Teerlink, J. R., Felker, G. M., McMurray, J. J. V., Ponikowski, P. P., Metra, M., Filippatos, G. S., Ezekowitz, J. A., Dickstein, K., Cleland, J. G. F., Kim, J. B., et al. (2016) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2016.01.031 · Cited by 235

A small-molecule modulator of cardiac myosin acts on multiple stages of the myosin chemomechanical cycle

Kawas, R. F., Anderson, R. L., Bartholomew, S. R., Song, Y., Sran, A. S., & Rodrı́guez, H. M. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m117.776815 · Cited by 231

An abnormal Ca2+ response in mutant sarcomere protein–mediated familial hypertrophic cardiomyopathy

Fatkin, D., McConnell, B. K., Mudd, J. O., Semsarian, C., Moskowitz, I. P. G., Schöen, F. J., Giewat, M., Seidman, C. E., & Seidman, J. G. (2000) · Journal of Clinical Investigation · doi:10.1172/jci11093 · Cited by 228

Single-Molecule Mechanics of R403Q Cardiac Myosin Isolated From the Mouse Model of Familial Hypertrophic Cardiomyopathy

Tyska, M. J., Hayes, E., Giewat, M., Seidman, C. E., Seidman, J. G., & Warshaw, D. M. (2000) · Circulation Research · doi:10.1161/01.res.86.7.737 · Cited by 225

New-Onset Heart Failure Due to Heart Muscle Disease in Childhood

Andrews, R., Fenton, M. J., Ridout, D. A., & Burch, M. (2007) · Circulation · doi:10.1161/circulationaha.106.671735 · Cited by 218

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin

Toepfer, C. N., Wakimoto, H., Garfinkel, A. C., McDonough, B. A., Liao, D., Jiang, J., Tai, A. C., Gorham, J., Lunde, I. G., Lun, M., et al. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aat1199 · Cited by 213

Dilated and Hypertrophic Cardiomyopathy Mutations in Troponin and α-Tropomyosin Have Opposing Effects on the Calcium Affinity of Cardiac Thin Filaments

Robinson, P. J., Griffiths, P., Watkins, H. C., & Redwood, C. S. (2007) · Circulation Research · doi:10.1161/circresaha.107.156380 · Cited by 210

Mechanistic and structural basis for activation of cardiac myosin force production by omecamtiv mecarbil

Planelles-Herrero, V. J., Hartman, J. J., Robert‐Paganin, J., Malik, F. I., & Houdusse, A. (2017) · Nature Communications · doi:10.1038/s41467-017-00176-5 · Cited by 204

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes

Álamo, L., Ware, J. S., Pinto, A., Gillilan, R. E., Seidman, J. G., Seidman, C. E., & Padrón, R. (2017) · eLife · doi:10.7554/elife.24634 · Cited by 197

Mutations in Troponin that cause HCM, DCM AND RCM: What can we learn about thin filament function?

Willott, R. H., Gomes, A. V., Chang, A. N., Parvatiyar, M. S., Pinto, J. R., & Potter, J. D. (2009) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2009.10.031 · Cited by 193

Understanding Cardiomyopathy Phenotypes Based on the Functional Impact of Mutations in the Myosin Motor

Moore, J. R., Leinwand, L. A., & Warshaw, D. M. (2012) · Circulation Research · doi:10.1161/circresaha.110.223842 · Cited by 181

Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes

Rosenzweig, A., Watkins, H., Hwang, D.-S., Miri, M., McKenna, W., Traill, T. A., Seidman, J. G., & Seidman, C. E. (1991) · New England Journal of Medicine · doi:10.1056/nejm199112193252501 · Cited by 181

The role of super-relaxed myosin in skeletal and cardiac muscle

McNamara, J. W., Li, A. S., dos Remedios, C. G., & Cooke, R. (2014) · Biophysical Reviews · doi:10.1007/s12551-014-0151-5 · Cited by 174

Disease Pathways and Novel Therapeutic Targets in Hypertrophic Cardiomyopathy

Ashrafian, H., McKenna, W. J., & Watkins, H. C. (2011) · Circulation Research · doi:10.1161/circresaha.111.242974 · Cited by 173

Improvement of Cardiac Function by a Cardiac Myosin Activator in Conscious Dogs With Systolic Heart Failure

Shen, Y.-T., Malik, F. I., Zhao, X., Depré, C., Dhar, S. K., Abarzúa, P., Morgans, D. J., & Vatner, S. F. (2010) · Circulation Heart Failure · doi:10.1161/circheartfailure.109.930321 · Cited by 171

Force Generation via β-Cardiac Myosin, Titin, and α-Actinin Drives Cardiac Sarcomere Assembly from Cell-Matrix Adhesions

Chopra, A., Kutys, M. L., Zhang, K., Polacheck, W. J., Sheng, C. C., Luu, R. J., Eyckmans, J., Hinson, J. T., Seidman, J. G., Seidman, C. E., et al. (2018) · Developmental Cell · doi:10.1016/j.devcel.2017.12.012 · Cited by 162

Three-Dimensional Reconstruction of Tarantula Myosin Filaments Suggests How Phosphorylation May Regulate Myosin Activity

Álamo, L., Wriggers, W. R., Pinto, A., Bártoli, F., Salazar, L., Zhao, F.-Q., Craig, R. W., & Padrón, R. (2008) · Journal of Molecular Biology · doi:10.1016/j.jmb.2008.10.013 · Cited by 149

MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy

McNamara, J. W., Li, A., Lal, S., Bos, J. M., Harris, S. P., van der Velden, J., Ackerman, M. J., Cooke, R., & dos Remedios, C. G. (2017) · PLoS ONE · doi:10.1371/journal.pone.0180064 · Cited by 148

Dilated Cardiomyopathy Mutations in Three Thin Filament Regulatory Proteins Result in a Common Functional Phenotype

Mirza, M., Marston, S. B., Willott, R. H., Ashley, C., Mogensen, J., McKenna, W. J., Robinson, P. J., Redwood, C. S., & Watkins, H. C. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m412281200 · Cited by 147

Ablation of cardiac myosin binding protein-C disrupts the super-relaxed state of myosin in murine cardiomyocytes

McNamara, J. W., Li, A., Smith, N. J., Lal, S., Graham, R. M., Kooiker, K. B., van Dijk, S. J., dos Remedios, C. G., Harris, S. P., & Cooke, R. (2016) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2016.03.009 · Cited by 147

Lamin and the heart

Captur, G., Arbustini, E., Bonne, G., Syrris, P., Mills, K. A., Wahbi, K., MOHIDDIN, S. A., McKenna, W. J., Pettit, S., Ho, C. Y., et al. (2017) · Heart · doi:10.1136/heartjnl-2017-312338 · Cited by 147

Hypertrophic cardiomyopathy and the myosin mesa: viewing an old disease in a new light

Trivedi, D. V., Adhikari, A. S., Sarkar, S. S., Ruppel, K. M., & Spudich, J. A. (2017) · Biophysical Reviews · doi:10.1007/s12551-017-0274-6 · Cited by 144

Myosin light chain phosphorylation enhances contraction of heart muscle via structural changes in both thick and thin filaments

Kampourakis, T., Sun, Y., & Irving, M. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1602776113 · Cited by 143

Calcium Sparks and Excitation–Contraction Coupling in Phospholamban‐Deficient Mouse Ventricular Myocytes

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

Is CD36 Deficiency an Etiology of Hereditary Hypertrophic Cardiomyopathy?

Tanaka, T., Sohmiya, K., & Kawamura, K. (1997) · Journal of Molecular and Cellular Cardiology · doi:10.1006/jmcc.1996.0257 · Cited by 140

Myosin filament activation in the heart is tuned to the mechanical task

Reconditi, M., Caremani, M., Pinzauti, F., Powers, J. D., Narayanan, T., Stienen, G. J. M., Linari, M., Lombardi, V., & Piazzesi, G. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1619484114 · Cited by 140

Cardiomyocytes Sense Matrix Rigidity through a Combination of Muscle and Non-muscle Myosin Contractions

Pandey, P., Hawkes, W., Hu, J., Megone, W. V., Gautrot, J. E., Anilkumar, N. P., Zhang, M., Hirvonen, L. M., Cox, S., Ehler, E., et al. (2018) · Developmental Cell · doi:10.1016/j.devcel.2017.12.024 · Cited by 133

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Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy

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Cyclic stretch induces the release of growth promoting factors from cultured neonatal cardiomyocytes and cardiac fibroblasts

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Discovery ofOmecamtiv Mecarbilthe First, Selective, Small Molecule Activator of Cardiac Myosin

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Interacting-heads motif has been conserved as a mechanism of myosin II inhibition since before the origin of animals

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A Spring Tale: New Facts on Titin Elasticity

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Cardiac myosin missense mutations cause dilated cardiomyopathy in mouse models and depress molecular motor function

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Binding of the N-terminal fragment C0–C2 of cardiac MyBP-C to cardiac F-actin

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Hypertrophic cardiomyopathy mutations increase myofilament Ca2+ buffering, alter intracellular Ca2+ handling, and stimulate Ca2+-dependent signaling

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A novel human R25C-phospholamban mutation is associated with super-inhibition of calcium cycling and ventricular arrhythmia

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Myofilament Calcium Sensitivity: Role in Regulation of In vivo Cardiac Contraction and Relaxation

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Targeted homozygous deletion of M-band titin in cardiomyocytes prevents sarcomere formation

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Heart Transplantation in Hypertrophic Cardiomyopathy

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Truncating Titin ( TTN) Variants in Chemotherapy-Induced Cardiomyopathy

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Increase in tension-dependent ATP consumption induced by cardiac troponin T mutation

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Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease

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Rare variant mutations identified in pediatric patients with dilated cardiomyopathy

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Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

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N-Terminal Domains of Cardiac Myosin Binding Protein C Cooperatively Activate the Thin Filament

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Slow Myosin ATP Turnover in the Super-Relaxed State in Tarantula Muscle

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Nationwide Study on Hypertrophic Cardiomyopathy in Iceland

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Insights into genotype–phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3

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Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy

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Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

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Relation of functional and morphological changes in mitochondria to myocardial contractile and relaxation reserves in asymptomatic to mildly symptomatic patients with hypertrophic cardiomyopathy

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Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy

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Alterations in mitochondrial function in a mouse model of hypertrophic cardiomyopathy

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Carriers of the Hypertrophic Cardiomyopathy MYBPC3 Mutation are Characterized by Reduced Myocardial Efficiency in the Absence of Hypertrophy and Microvascular Dysfunction

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Cardiac Myosin-binding Protein C and Troponin-I Phosphorylation Independently Modulate Myofilament Length-dependent Activation

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Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

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Rbm20-deficient cardiogenesis reveals early disruption of RNA processing and sarcomere remodeling establishing a developmental etiology for dilated cardiomyopathy

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Epidemiology and Clinical Aspects of Genetic Cardiomyopathies

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The Multifunctional Protein BAG3

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Relevance of truncating titin mutations in dilated cardiomyopathy

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Parsing Good Versus Bad Signaling Pathways in the Heart

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The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases

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Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population

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Metabolic crosstalk between the heart and liver impacts familial hypertrophic cardiomyopathy

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Decreased contractility due to energy deprivation in a transgenic rat model of hypertrophic cardiomyopathy

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Reevaluation of the South Asian MYBPC3 Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy

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Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies

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Allele-specific differences in transcriptome, miRNome, and mitochondrial function in two hypertrophic cardiomyopathy mouse models

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Molecular mechanisms and structural features of cardiomyopathy-causing troponin T mutants in the tropomyosin overlap region

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Hypercontractile mutant of ventricular myosin essential light chain leads to disruption of sarcomeric structure and function and results in restrictive cardiomyopathy in mice

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Lessons from a tarantula: new insights into muscle thick filament and myosin interacting-heads motif structure and function

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A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations

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Insights into Human β-Cardiac Myosin Function from Single Molecule and Single Cell Studies

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Arrhythmogenic Right Ventricular Cardiomyopathy: Progress Toward Personalized Management

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Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

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Contractile responses to endothelin-1 are regulated by PKC phosphorylation of cardiac myosin binding protein-C in rat ventricular myocytes

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Peripartum Cardiomyopathy

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Cardiac Myosin Binding Protein C Phosphorylation Affects Cross-Bridge Cycle's Elementary Steps in a Site-Specific Manner

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Sequential myosin phosphorylation activates tarantula thick filament via a disorder–order transition

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