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Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->Ser mutation in the human LPL gene.
Zhang H, Reymer PW, Liu MS, Forsythe IJ, Groenemeyer BE, Frohlich J, Brunzell JD, Kastelein JJ, Hayden MR, Ma Y. Zhang H, et al. Among authors: kastelein jj. Arterioscler Thromb Vasc Biol. 1995 Oct;15(10):1695-703. doi: 10.1161/01.atv.15.10.1695. Arterioscler Thromb Vasc Biol. 1995. PMID: 7583546
Mutations in the gene for lipoprotein lipase. A cause for low HDL cholesterol levels in individuals heterozygous for familial hypercholesterolemia.
Pimstone SN, Gagné SE, Gagné C, Lupien PJ, Gaudet D, Williams RR, Kotze M, Reymer PW, Defesche JC, Kastelein JJ, et al. Pimstone SN, et al. Among authors: kastelein jj. Arterioscler Thromb Vasc Biol. 1995 Oct;15(10):1704-12. doi: 10.1161/01.atv.15.10.1704. Arterioscler Thromb Vasc Biol. 1995. PMID: 7583547
Two novel molecular defects in the LCAT gene are associated with fish eye disease.
Kuivenhoven JA, Stalenhoef AF, Hill JS, Demacker PN, Errami A, Kastelein JJ, Pritchard PH. Kuivenhoven JA, et al. Among authors: kastelein jj. Arterioscler Thromb Vasc Biol. 1996 Feb;16(2):294-303. doi: 10.1161/01.atv.16.2.294. Arterioscler Thromb Vasc Biol. 1996. PMID: 8620346 Free article. Review.
Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group.
Groenemeijer BE, Hallman MD, Reymer PW, Gagné E, Kuivenhoven JA, Bruin T, Jansen H, Lie KI, Bruschke AV, Boerwinkle E, Hayden MR, Kastelein JJ. Groenemeijer BE, et al. Among authors: kastelein jj. Circulation. 1997 Jun 17;95(12):2628-35. doi: 10.1161/01.cir.95.12.2628. Circulation. 1997. PMID: 9193431 Clinical Trial.
905 results