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Page 1
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer M, Edmondson AC, Khetarpal SA, Alesi V, Zaki MS, Rostasy K, Madsen CG, Lepri FR, Sinibaldi L, Cusmai R, Novelli A, Issa MY, Fenger CD, Abou Jamra R, Reutter H, Briuglia S, Agolini E, Hansen L, Petäjä-Repo UE, Hintze J, Raymond KM, Liedtke K, Stanley V, Musaev D, Gleeson JG, Vitali C, O'Brien WT, Gardella E, Rubboli G, Rader DJ, Schjoldager KT, Møller RS. Zilmer M, et al. Among authors: edmondson ac. Brain. 2020 Apr 1;143(4):1114-1126. doi: 10.1093/brain/awaa063. Brain. 2020. PMID: 32293671 Free PMC article.
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.
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.
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.
Hepatic sortilin regulates both apolipoprotein B secretion and LDL catabolism.
Strong A, Ding Q, Edmondson AC, Millar JS, Sachs KV, Li X, Kumaravel A, Wang MY, Ai D, Guo L, Alexander ET, Nguyen D, Lund-Katz S, Phillips MC, Morales CR, Tall AR, Kathiresan S, Fisher EA, Musunuru K, Rader DJ. Strong A, et al. Among authors: edmondson ac. J Clin Invest. 2012 Aug;122(8):2807-16. doi: 10.1172/JCI63563. Epub 2012 Jul 2. J Clin Invest. 2012. PMID: 22751103 Free PMC article.
96 results