The DOI matches its Crossref record; 154 of the 154 references it cites were found in a registry or an index.
Advances in the Genetic Basis and Pathogenesis of Sarcomere Cardiomyopathies
Open accessAbstract
Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart muscle disorders that are caused by pathogenic variants in sarcomere protein genes. HCM is characterized by unexplained cardiac hypertrophy (increased chamber wall thickness) that is accompanied by enhanced cardiac contractility and impaired relaxation. DCM is defined as increased ventricular chamber volume with contractile impairment. In this review, we discuss recent analyses that provide new insights into the molecular mechanisms that cause these conditions. HCM studies have uncovered the critical importance of conformational changes that occur during relaxation and enable energy conservation, which are frequently disturbed by HCM mutations. DCM studies have demonstrated the considerable prevalence of truncating variants in titin and have discerned that these variants reduce contractile function by impairing sarcomerogenesis. These new pathophysiologic mechanisms open exciting opportunities to identify new pharmacological targets and develop future cardioprotective strategies.
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“While around 1,400 mutations have been identified in 11 genes related to the sarcomere, the molecular events leading to disease phenotype remain largely misunderstood [148].”
From Top-down proteomics: challenges, innovations, and applications in basic and clinical research (2020) · cites this paper as [148]
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“While around 1,400 mutations have been identified in 11 genes related to the sarcomere, the molecular events leading to disease phenotype remain largely misunderstood [148].”
From Top-down proteomics: challenges, innovations, and applications in basic and clinical research (2020) · cites this paper as [148]
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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
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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
Self-citationElliot, 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
Self-citationGeisterfer-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
Self-citationPinto, 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
Research works printed but not linked: 2
- Gersh BJ, 2011, Circulation, 124, e783
- Walsh R, 2017, Eur. Heart J., 38, 3461
Cited by
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Cardiomyocyte Maturation: New Phase in Development
Guo, Y., & Pu, W. T. (2020) · Circulation Research · doi:10.1161/circresaha.119.315862 · Cited by 653
Harper, A. R., Goel, A., Grace, C., Thomson, K. L., Petersen, S. E., Xu, X., Waring, A., Ormondroyd, E., Kramer, C. M., Ho, C. Y., et al. (2021) · Nature Genetics · doi:10.1038/s41588-020-00764-0 · Cited by 353
Efficient in vivo genome editing prevents hypertrophic cardiomyopathy in mice
Reichart, D., Newby, G. A., Wakimoto, H., Lun, M., Gorham, J. M., Curran, J. J., Raguram, A., DeLaughter, D. M., Conner, D. A., Marsiglia, J. D. C., et al. (2023) · Nature Medicine · doi:10.1038/s41591-022-02190-7 · Cited by 203
Self-citationGenetic and Phenotypic Landscape of Peripartum Cardiomyopathy
Goli, R. R., Li, J., Brandimarto, J., Levine, L. D., Riis, V. M., Mcafee, Q. W., DePalma, S. R., Haghighi, A., Seidman, J. G., Seidman, C. E., et al. (2021) · Circulation · doi:10.1161/circulationaha.120.052395 · Cited by 196
Self-citationTop-down proteomics: challenges, innovations, and applications in basic and clinical research
Brown, K. A., Melby, J. A., Roberts, D. S., & Ge, Y. (2020) · Expert Review of Proteomics · doi:10.1080/14789450.2020.1855982 · Cited by 152
Metadata
- Authors
- Yotti, R., Seidman, C. E., & Seidman, J. G.
- Affiliations
- Instituto de Salud Carlos III (ES)
- Brigham and Women's Hospital (US)
- Harvard University (US)
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2019-08-31
- Volume
- 20
- Issue
- 1
- Pages
- 129-153
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2936587264
- Cited by
- 168
- References
- 154
- Citations by year
- 2026: 10 · 2025: 17 · 2024: 35 · 2023: 27 · 2022: 24 · 2021: 33 · 2020: 18 · 2019: 4
- FWCI
- 3.57
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Annual Review of Genomics and Human Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Howard Hughes Medical Institute
- Fondation Leducq
- Centro de Investigación Biomédica en Red Enfermedades Cardiovasculares
- National Institutes of Health
- Instituto de Salud Carlos III (PI15/02229)
- National Heart, Lung, and Blood Institute (R01HL084553)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
- Keywords
- hypertrophic cardiomyopathy, dilated cardiomyopathy, pathogenic variants, myocardial relaxation, sarcomerogenesis, cardiac contractility, energy conservation, therapeutic target, cardioprotection
- MeSH terms
- Myosin Binding Protein C, Benzylamines, Cardiomyopathy, Dilated, Cardiomyopathy, Hypertrophic, Cardiotonic Agents, Carrier Proteins, Humans, Mutation, Myocardial Contraction, Myocardium, Sarcomeres, Uracil, Urea, Gene Expression, RNA-Binding Proteins, Myosin Heavy Chains, Troponin T, Cardiac Myosins, Connectin
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