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Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation.
Rip J, Nierman MC, Ross CJ, Jukema JW, Hayden MR, Kastelein JJ, Stroes ES, Kuivenhoven JA. Rip J, et al. Among authors: kastelein jj. Arterioscler Thromb Vasc Biol. 2006 Jun;26(6):1236-45. doi: 10.1161/01.ATV.0000219283.10832.43. Epub 2006 Mar 30. Arterioscler Thromb Vasc Biol. 2006. PMID: 16574898 Review.
Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken.
Attie AD, Hamon Y, Brooks-Wilson AR, Gray-Keller MP, MacDonald ML, Rigot V, Tebon A, Zhang LH, Mulligan JD, Singaraja RR, Bitgood JJ, Cook ME, Kastelein JJ, Chimini G, Hayden MR. Attie AD, et al. Among authors: kastelein jj. J Lipid Res. 2002 Oct;43(10):1610-7. doi: 10.1194/jlr.m200223-jlr200. J Lipid Res. 2002. PMID: 12364545 Free article.
Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol.
Wellington CL, Yang YZ, Zhou S, Clee SM, Tan B, Hirano K, Zwarts K, Kwok A, Gelfer A, Marcil M, Newman S, Roomp K, Singaraja R, Collins J, Zhang LH, Groen AK, Hovingh K, Brownlie A, Tafuri S, Genest J Jr, Kastelein JJ, Hayden MR. Wellington CL, et al. Among authors: kastelein jj. J Lipid Res. 2002 Nov;43(11):1939-49. doi: 10.1194/jlr.m200277-jlr200. J Lipid Res. 2002. PMID: 12401893 Free article.
893 results