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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 1,098 · see citing works

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 · see citing works

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 1,023 · see citing works

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 779 · see citing works

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 733 · see citing works

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 · see citing works

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 · see citing works

Cardiomyocyte Maturation: New Phase in Development

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

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 · see citing works

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 · see citing works

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 615 · see citing works

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 · see citing works

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 488 · see citing works

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 474 · see citing works

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 452 · see citing works

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

Alfares, A. A., Kelly, M., McDermott, G. C., Funke, B., Lebo, M. S., Baxter, S., 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 442 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 363 · see citing works

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 358 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 322 · see citing works

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 313 · see citing works

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 · see citing works

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 285 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 260 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 225 · see citing works

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 223 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 205 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 177 · see citing works

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 · see citing works

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 171 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 147 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

Is CD36 Deficiency an Etiology of Hereditary Hypertrophic Cardiomyopathy?

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

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

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Genetic Pathogenesis of Hypertrophic and Dilated Cardiomyopathy

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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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Phosphorylation and calcium antagonistically tune myosin-binding protein C’s structure and function

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Integrative Analysis of PRKAG2 Cardiomyopathy iPS and Microtissue Models Identifies AMPK as a Regulator of Metabolism, Survival, and Fibrosis

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Conserved Intramolecular Interactions Maintain Myosin Interacting-Heads Motifs Explaining Tarantula Muscle Super-Relaxed State Structural Basis

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A Spring Tale: New Facts on Titin Elasticity

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Omecamtiv mercabil and blebbistatin modulate cardiac contractility by perturbing the regulatory state of the myosin filament

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

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

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

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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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Truncating Titin ( TTN) Variants in Chemotherapy-Induced Cardiomyopathy

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Heart Transplantation in Hypertrophic Cardiomyopathy

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Subtle Abnormalities in Contractile Function Are an Early Manifestation of Sarcomere Mutations in Dilated 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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Disease Stage–Dependent Changes in Cardiac Contractile Performance and Oxygen Utilization Underlie Reduced Myocardial Efficiency in Human Inherited Hypertrophic Cardiomyopathy

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Alterations in mitochondrial function in a mouse model of hypertrophic cardiomyopathy

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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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Effects of Troponin T Cardiomyopathy Mutations on the Calcium Sensitivity of the Regulated Thin Filament and the Actomyosin Cross-Bridge Kinetics of Human β-Cardiac Myosin

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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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Hypertrophic cardiomyopathy: a heart in need of an energy bar?

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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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Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility

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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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Assembly and Maintenance of Sarcomere Thin Filaments and Associated Diseases

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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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Arrhythmogenic Right Ventricular Cardiomyopathy: Progress Toward Personalized Management

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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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