The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Malignant hyperthermia
Abstract
In humans genetically predisposed to malignant hyperthermia, anesthesia can induce skeletal muscle rigidity, hypermetabolism, and high fever, which, if not immediately reversed, can lead to tissue damage or death. The corresponding condition in swine leads to stress-induced deaths and devalued meat products. Abnormalities in the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (the ryanodine receptor) have been implicated in the cause of both the porcine and human syndromes by physiological and biochemical studies and genetic linkage analysis. In swine, a single founder mutation in the ryanodine receptor gene (RYR1) can account for all cases of malignant hyperthermia in all breeds, but a series of different RYR1 mutations are likely to be uncovered in human families with MH. Moreover, lack of linkage between malignant hyperthermia and RYR1 in some families indicates a heterogeneous genetic basis for the human syndrome.
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Cites
Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor
Takeshima, H., Nishimura, S., Matsumoto, T., Ishida, H., Kangawa, K., Minamino, N., Matsuo, H., Ueda, M., Hanaoka, M., Hirose, T., et al. (1989) · Nature · doi:10.1038/339439a0 · Cited by 1,146
Cited by
The role of Ca2+ ions in excitation-contraction coupling of skeletal muscle fibres
Melzer, W., Herrmann-Frank, A., & Lüttgau, H. C. (1995) · Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes · doi:10.1016/0304-4157(94)00014-5 · Cited by 548
Genetic dissection of phenotypic diversity in farm animals
Andersson, L. (2001) · Nature Reviews Genetics · doi:10.1038/35052563 · Cited by 425
Monnier, N., Procaccio, V., Stieglitz, P., & Lunardi, J. (1997) · The American Journal of Human Genetics · doi:10.1086/515454 · Cited by 420
Modulation of the Ryanodine Receptor and Intracellular Calcium
Zalk, R., Lehnart, S. E., & Marks, A. R. (2007) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.76.053105.094237 · Cited by 371
Scheffler, T. L., & Gerrard, D. E. (2007) · Meat Science · doi:10.1016/j.meatsci.2007.04.024 · Cited by 342
Metadata
- Authors
- MacLennan, D., & Phillips, M.
- Venue
- Science
- Published
- 1992-05-08
- Volume
- 256
- Issue
- 5058
- Pages
- 789-794
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W4251100015
- Cited by
- 427
- References
- 1
- FWCI
- 12.34
- Type
- journal article
- Language
- en
- Open access
- closed
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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.
