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Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.
Zvaritch E, Kraeva N, Bombardier E, McCloy RA, Depreux F, Holmyard D, Kraev A, Seidman CE, Seidman JG, Tupling AR, MacLennan DH. Zvaritch E, et al. Among authors: maclennan dh. Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21813-8. doi: 10.1073/pnas.0912126106. Epub 2009 Dec 3. Proc Natl Acad Sci U S A. 2009. PMID: 19959667 Free PMC article.
An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line.
Zvaritch E, Depreux F, Kraeva N, Loy RE, Goonasekera SA, Boncompagni S, Kraev A, Gramolini AO, Dirksen RT, Franzini-Armstrong C, Seidman CE, Seidman JG, Maclennan DH. Zvaritch E, et al. Among authors: maclennan dh. Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18537-42. doi: 10.1073/pnas.0709312104. Epub 2007 Nov 14. Proc Natl Acad Sci U S A. 2007. PMID: 18003898 Free PMC article.
Toward comparative genomics of calcium transporters.
Kraev A, MacLennan D. Kraev A, et al. Ann N Y Acad Sci. 2002 Nov;976:53-9. doi: 10.1111/j.1749-6632.2002.tb04713.x. Ann N Y Acad Sci. 2002. PMID: 12502533 Review. No abstract available.
283 results