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The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.
Deming Y, Filipello F, Cignarella F, Cantoni C, Hsu S, Mikesell R, Li Z, Del-Aguila JL, Dube U, Farias FG, Bradley J, Budde J, Ibanez L, Fernandez MV, Blennow K, Zetterberg H, Heslegrave A, Johansson PM, Svensson J, Nellgård B, Lleo A, Alcolea D, Clarimon J, Rami L, Molinuevo JL, Suárez-Calvet M, Morenas-Rodríguez E, Kleinberger G, Ewers M, Harari O, Haass C, Brett TJ, Benitez BA, Karch CM, Piccio L, Cruchaga C. Deming Y, et al. Among authors: karch cm. Sci Transl Med. 2019 Aug 14;11(505):eaau2291. doi: 10.1126/scitranslmed.aau2291. Sci Transl Med. 2019. PMID: 31413141 Free PMC article.
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, Bertelsen S, Bailey M, McKean D, Shulman JM, De Jager PL, Chibnik L, Bennett DA, Arnold SE, Harold D, Sims R, Gerrish A, Williams J, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Peskind ER, Galasko D, Fagan AM, Holtzman DM, Morris JC; GERAD Consortium; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetic Consortium (ADGC); Goate AM. Cruchaga C, et al. Among authors: karch cm. Neuron. 2013 Apr 24;78(2):256-68. doi: 10.1016/j.neuron.2013.02.026. Epub 2013 Apr 4. Neuron. 2013. PMID: 23562540 Free PMC article.
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA; Alzheimer's Disease Neuroimaging Initiative; Genetic and Environmental Risk for Alzheimer's Disease Consortium GERAD; Fagan AM, Holtzman D, Morris JC, Goate AM, Cruchaga C. Benitez BA, et al. Among authors: karch cm. PLoS Genet. 2013;9(8):e1003685. doi: 10.1371/journal.pgen.1003685. Epub 2013 Aug 22. PLoS Genet. 2013. PMID: 23990795 Free PMC article.
Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.
Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Sassi C, Bras J, Gibbs RJ, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer's Research UK (ARUK) Consortium; Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton A, Hardy J, Kamboh MI, George-Hyslop PS, Cairns N, Morris JC, Kauwe JSK, Goate AM. Cruchaga C, et al. Among authors: karch cm. Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11. Nature. 2014. PMID: 24336208 Free PMC article.
Coding variants in TREM2 increase risk for Alzheimer's disease.
Jin SC, Benitez BA, Karch CM, Cooper B, Skorupa T, Carrell D, Norton JB, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM, Cruchaga C. Jin SC, et al. Among authors: karch cm. Hum Mol Genet. 2014 Nov 1;23(21):5838-46. doi: 10.1093/hmg/ddu277. Epub 2014 Jun 4. Hum Mol Genet. 2014. PMID: 24899047 Free PMC article.
Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.
Kauwe JS, Bailey MH, Ridge PG, Perry R, Wadsworth ME, Hoyt KL, Staley LA, Karch CM, Harari O, Cruchaga C, Ainscough BJ, Bales K, Pickering EH, Bertelsen S; Alzheimer's Disease Neuroimaging Initiative; Fagan AM, Holtzman DM, Morris JC, Goate AM. Kauwe JS, et al. Among authors: karch cm. PLoS Genet. 2014 Oct 23;10(10):e1004758. doi: 10.1371/journal.pgen.1004758. eCollection 2014 Oct. PLoS Genet. 2014. PMID: 25340798 Free PMC article.
134 results