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Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.
Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, Martinez R, Hsu S, Fernandez MV, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN); International FTD-Genomics Consortium (IFGC); Harari O, Cruchaga C, Karch CM. Jiang S, et al. Among authors: budde j. Transl Psychiatry. 2018 Dec 13;8(1):265. doi: 10.1038/s41398-018-0319-z. Transl Psychiatry. 2018. PMID: 30546007 Free PMC article.
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin.
Mukherjee O, Pastor P, Cairns NJ, Chakraverty S, Kauwe JS, Shears S, Behrens MI, Budde J, Hinrichs AL, Norton J, Levitch D, Taylor-Reinwald L, Gitcho M, Tu PH, Tenenholz Grinberg L, Liscic RM, Armendariz J, Morris JC, Goate AM. Mukherjee O, et al. Among authors: budde j. Ann Neurol. 2006 Sep;60(3):314-22. doi: 10.1002/ana.20963. Ann Neurol. 2006. PMID: 16983685 Free PMC article.
Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence.
Wang JC, Grucza R, Cruchaga C, Hinrichs AL, Bertelsen S, Budde JP, Fox L, Goldstein E, Reyes O, Saccone N, Saccone S, Xuei X, Bucholz K, Kuperman S, Nurnberger J Jr, Rice JP, Schuckit M, Tischfield J, Hesselbrock V, Porjesz B, Edenberg HJ, Bierut LJ, Goate AM. Wang JC, et al. Among authors: budde jp. Mol Psychiatry. 2009 May;14(5):501-10. doi: 10.1038/mp.2008.42. Epub 2008 Apr 15. Mol Psychiatry. 2009. PMID: 18414406 Free PMC article.
A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53.
Wang JC, Foroud T, Hinrichs AL, Le NX, Bertelsen S, Budde JP, Harari O, Koller DL, Wetherill L, Agrawal A, Almasy L, Brooks AI, Bucholz K, Dick D, Hesselbrock V, Johnson EO, Kang S, Kapoor M, Kramer J, Kuperman S, Madden PA, Manz N, Martin NG, McClintick JN, Montgomery GW, Nurnberger JI Jr, Rangaswamy M, Rice J, Schuckit M, Tischfield JA, Whitfield JB, Xuei X, Porjesz B, Heath AC, Edenberg HJ, Bierut LJ, Goate AM. Wang JC, et al. Among authors: budde jp. Mol Psychiatry. 2013 Nov;18(11):1218-24. doi: 10.1038/mp.2012.143. Epub 2012 Oct 23. Mol Psychiatry. 2013. PMID: 23089632 Free PMC article.
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.
Kapoor M, Wang JC, Wetherill L, Le N, Bertelsen S, Hinrichs AL, Budde J, Agrawal A, Bucholz K, Dick D, Harari O, Hesselbrock V, Kramer J, Nurnberger JI Jr, Rice J, Saccone N, Schuckit M, Tischfield J, Porjesz B, Edenberg HJ, Bierut L, Foroud T, Goate A. Kapoor M, et al. Among authors: budde j. Hum Genet. 2013 Oct;132(10):1141-51. doi: 10.1007/s00439-013-1318-z. Epub 2013 Jun 7. Hum Genet. 2013. PMID: 23743675 Free PMC article.
Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry.
Wang JC, Spiegel N, Bertelsen S, Le N, McKenna N, Budde JP, Harari O, Kapoor M, Brooks A, Hancock D, Tischfield J, Foroud T, Bierut LJ, Steinbach JH, Edenberg HJ, Traynor BJ, Goate AM. Wang JC, et al. Among authors: budde jp. PLoS One. 2013 Nov 26;8(11):e80204. doi: 10.1371/journal.pone.0080204. eCollection 2013. PLoS One. 2013. PMID: 24303001 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: budde j. Nature. 2014 Jan 23;505(7484):550-554. doi: 10.1038/nature12825. Epub 2013 Dec 11. Nature. 2014. PMID: 24336208 Free PMC article.
SORL1 variants across Alzheimer's disease European American cohorts.
Fernández MV, Black K, Carrell D, Saef B, Budde J, Deming Y, Howells B, Del-Aguila JL, Ma S, Bi C, Norton J, Chasse R, Morris J, Goate A, Cruchaga C; NIA-LOAD family study group, NCRAD. Fernández MV, et al. Among authors: budde j. Eur J Hum Genet. 2016 Dec;24(12):1828-1830. doi: 10.1038/ejhg.2016.122. Epub 2016 Sep 21. Eur J Hum Genet. 2016. PMID: 27650968 Free PMC article.
Chitinase-3-like 1 protein (CHI3L1) locus influences cerebrospinal fluid levels of YKL-40.
Deming Y, Black K, Carrell D, Cai Y, Del-Aguila JL, Fernandez MV, Budde J, Ma S, Saef B, Howells B, Bertelsen S, Huang KL, Sutphen CL, Tarawneh R, Fagan AM, Holtzman DM, Morris JC, Goate AM, Dougherty JD, Cruchaga C. Deming Y, et al. Among authors: budde j. BMC Neurol. 2016 Nov 10;16(1):217. doi: 10.1186/s12883-016-0742-9. BMC Neurol. 2016. PMID: 27832767 Free PMC article.
145 results