The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia
Abstract
Malignant hyperthermia (MH) causes neurological, liver, and kidney damage and death in humans and major economic losses in the swine industry. A single point mutation in the porcine gene for the skeletal muscle ryanodine receptor (ryr1) was found to be correlated with MH in five major breeds of lean, heavily muscled swine. Haplotyping suggests that the mutation in all five breeds has a common origin. Assuming that this is the causal mutation for MH, the development of a noninvasive diagnostic test will provide the basis for elimination of the MH gene or its controlled inclusion in swine breeding programs.
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Cites
Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
Saiki, R. K., Gelfand, D. H., Stoffel, S., Scharf, S. J., Higuchi, R., Horn, G. T., Mullis, K. B., & Erlich, H. A. (1988) · Science · doi:10.1126/science.2448875 · Cited by 17,719
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
Laitinen, P. J., Brown, K. M., Piippo, K., Swan, H., Devaney, J. M., Brahmbhatt, B., Donarum, E. A., Marino, M., Tiso, N., Viitasalo, M., et al. (2001) · Circulation · doi:10.1161/01.cir.103.4.485 · Cited by 726
Strong signatures of selection in the domestic pig genome
Rubin, C.-J., Megens, H.-J., Barrio, A. M., Maqbool, K., Sayyab, S., Schwochow, D., Wang, C., Carlborg, Ö., Jern, P., Jørgensen, C. B., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1217149109 · Cited by 652
The Promise of Comparative Genomics in Mammals
O'Brien, S. J., Menotti-Raymond, M., Murphy, W. J., Nash, W. G., Wienberg, J., Stanyon, R., Copeland, N. G., Jenkins, N. A., Womack, J. E., & Marshall Graves, J. A. (1999) · Science · doi:10.1126/science.286.5439.458 · Cited by 423
Harnessing genomic information for livestock improvement
Georges, M., Charlier, C., & Hayes, B. (2019) · Nature Reviews Genetics · doi:10.1038/s41576-018-0082-2 · Cited by 384
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
Metadata
- Authors
- Fujii, J., Otsu, K., Zorzato, F., de Leon, S., Khanna, V. K., Weiler, J. E., O'Brien, P. J., & MacLennan, D. H.
- Venue
- Science
- Published
- 1991-07-26
- Volume
- 253
- Issue
- 5018
- Pages
- 448-451
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2034044880
- Cited by
- 1,471
- References
- 2
- FWCI
- 24.81
- Type
- journal article
- Language
- en
- Open access
- closed
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- Fujii, J., Otsu, K., Zorzato, F., de Leon, S., Khanna, V. K., Weiler, J. E., O'Brien, P. J., & MacLennan, D. H. (1991). Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia. Science. https://doi.org/10.1126/science.1862346
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