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A Mouse Model of Familial Hypertrophic Cardiomyopathy
Abstract
A mouse model of familial hypertrophic cardiomyopathy (FHC) was generated by the introduction of an Arg 403 → Gln mutation into the α cardiac myosin heavy chain (MHC) gene. Homozygous αMHC 403/403 mice died 7 days after birth, and sedentary heterozygous αMHC 403/+ mice survived for 1 year. Cardiac histopathology and dysfunction in the αMHC 403/+ mice resembled human FHC. Cardiac dysfunction preceded histopathologic changes, and myocyte disarray, hypertrophy, and fibrosis increased with age. Young male αMHC 403/+ mice showed more evidence of disease than did their female counterparts. Preliminary results suggested that exercise capacity may have been compromised in the αMHC 403/+ mice. This mouse model may help to define the natural history of FHC.
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Citations
Cited by
Hypertrophic Cardiomyopathy: A Systematic Review
Maron, B. J. (2002) · JAMA · doi:10.1001/jama.287.10.1308 · Cited by 2,224
Sarcopenia: Aging-Related Loss of Muscle Mass and Function
Larsson, L., Degens, H., Li, M., Salviati, L., Lee, Y. I., Thompson, W., Kirkland, J. L., & Sandri, M. (2019) · Physiological Reviews · doi:10.1152/physrev.00061.2017 · Cited by 1,797
Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy
Marian, A. J., & Braunwald, E. (2017) · Circulation Research · doi:10.1161/circresaha.117.311059 · Cited by 1,403
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
Self-citationIs the Failing Heart Energy Starved?: On Using Chemical Energy to Support Cardiac Function
Ingwall, J. S., & Weiss, R. G. (2004) · Circulation Research · doi:10.1161/01.res.0000137170.41939.d9 · Cited by 604
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Metadata
- Authors
- Geisterfer-Lowrance, A. A. T., Christe, M., Conner, D. A., Ingwall, J. S., Schoen, F. J., Seidman, C. E., & Seidman, J. G.
- Venue
- Science
- Published
- 1996-05-03
- Volume
- 272
- Issue
- 5262
- Pages
- 731-734
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1988373211
- Cited by
- 556
- References
- 0
- FWCI
- 29.78
- Type
- journal article
- Language
- en
- Open access
- closed
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- Geisterfer-Lowrance, A. A. T., Christe, M., Conner, D. A., Ingwall, J. S., Schoen, F. J., Seidman, C. E., & Seidman, J. G. (1996). A Mouse Model of Familial Hypertrophic Cardiomyopathy. Science. https://doi.org/10.1126/science.272.5262.731
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.