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Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.
Edmondson AC, Brown RJ, Kathiresan S, Cupples LA, Demissie S, Manning AK, Jensen MK, Rimm EB, Wang J, Rodrigues A, Bamba V, Khetarpal SA, Wolfe ML, Derohannessian S, Li M, Reilly MP, Aberle J, Evans D, Hegele RA, Rader DJ. Edmondson AC, et al. J Clin Invest. 2009 Apr;119(4):1042-50. doi: 10.1172/JCI37176. Epub 2009 Mar 16. J Clin Invest. 2009. PMID: 19287092 Free PMC article.
Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol.
Khetarpal SA, Edmondson AC, Raghavan A, Neeli H, Jin W, Badellino KO, Demissie S, Manning AK, DerOhannessian SL, Wolfe ML, Cupples LA, Li M, Kathiresan S, Rader DJ. Khetarpal SA, et al. Among authors: edmondson ac. PLoS Genet. 2011 Dec;7(12):e1002393. doi: 10.1371/journal.pgen.1002393. Epub 2011 Dec 8. PLoS Genet. 2011. PMID: 22174694 Free PMC article.
Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.
Edmondson AC, Braund PS, Stylianou IM, Khera AV, Nelson CP, Wolfe ML, Derohannessian SL, Keating BJ, Qu L, He J, Tobin MD, Tomaszewski M, Baumert J, Klopp N, Döring A, Thorand B, Li M, Reilly MP, Koenig W, Samani NJ, Rader DJ. Edmondson AC, et al. Circ Cardiovasc Genet. 2011 Apr;4(2):145-55. doi: 10.1161/CIRCGENETICS.110.957563. Epub 2011 Feb 8. Circ Cardiovasc Genet. 2011. PMID: 21303902 Free PMC article.
Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents.
Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, Ouazzani R, Peloso GM, Vitali C, Zhao W, Somasundara AV, Millar JS, Park Y, Fernando G, Livanov V, Choi S, Noé E, Patel P, Ho SP; Myocardial Infarction Exome Sequencing Study; Kirchgessner TG, Wandall HH, Hansen L, Bennett EP, Vakhrushev SY, Saleheen D, Kathiresan S, Brown CD, Abou Jamra R, LeGuern E, Clausen H, Rader DJ. Khetarpal SA, et al. Among authors: edmondson ac. Cell Metab. 2016 Aug 9;24(2):234-45. doi: 10.1016/j.cmet.2016.07.012. Cell Metab. 2016. PMID: 27508872 Free PMC article.
Biological, clinical and population relevance of 95 loci for blood lipids.
Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J, Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni… See abstract for full author list ➔ Teslovich TM, et al. Among authors: edmondson ac. Nature. 2010 Aug 5;466(7307):707-13. doi: 10.1038/nature09270. Nature. 2010. PMID: 20686565 Free PMC article.
87 results