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Genetic variant of the scavenger receptor BI in humans.
Vergeer M, Korporaal SJ, Franssen R, Meurs I, Out R, Hovingh GK, Hoekstra M, Sierts JA, Dallinga-Thie GM, Motazacker MM, Holleboom AG, Van Berkel TJ, Kastelein JJ, Van Eck M, Kuivenhoven JA. Vergeer M, et al. N Engl J Med. 2011 Jan 13;364(2):136-45. doi: 10.1056/NEJMoa0907687. N Engl J Med. 2011. PMID: 21226579 Free article.
Naturally Occurring Variants in LRP1 (Low-Density Lipoprotein Receptor-Related Protein 1) Affect HDL (High-Density Lipoprotein) Metabolism Through ABCA1 (ATP-Binding Cassette A1) and SR-B1 (Scavenger Receptor Class B Type 1) in Humans.
Oldoni F, van Capelleveen JC, Dalila N, Wolters JC, Heeren J, Sinke RJ, Hui DY, Dallinga-Thie GM, Frikke-Schmidt R, Hovingh KG, van de Sluis B, Tybjærg-Hansen A, Kuivenhoven JA. Oldoni F, et al. Arterioscler Thromb Vasc Biol. 2018 Jul;38(7):1440-1453. doi: 10.1161/ATVBAHA.117.310309. Epub 2018 May 31. Arterioscler Thromb Vasc Biol. 2018. PMID: 29853565 Free PMC article.
N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression.
van den Boogert MAW, Larsen LE, Ali L, Kuil SD, Chong PLW, Loregger A, Kroon J, Schnitzler JG, Schimmel AWM, Peter J, Levels JHM, Steenbergen G, Morava E, Dallinga-Thie GM, Wevers RA, Kuivenhoven JA, Hand NJ, Zelcer N, Rader DJ, Stroes ESG, Lefeber DJ, Holleboom AG. van den Boogert MAW, et al. Circulation. 2019 Jul 23;140(4):280-292. doi: 10.1161/CIRCULATIONAHA.118.036484. Epub 2019 May 23. Circulation. 2019. PMID: 31117816
Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man.
Holleboom AG, Karlsson H, Lin RS, Beres TM, Sierts JA, Herman DS, Stroes ES, Aerts JM, Kastelein JJ, Motazacker MM, Dallinga-Thie GM, Levels JH, Zwinderman AH, Seidman JG, Seidman CE, Ljunggren S, Lefeber DJ, Morava E, Wevers RA, Fritz TA, Tabak LA, Lindahl M, Hovingh GK, Kuivenhoven JA. Holleboom AG, et al. Cell Metab. 2011 Dec 7;14(6):811-8. doi: 10.1016/j.cmet.2011.11.005. Cell Metab. 2011. PMID: 22152306 Free PMC article.
238 results