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The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.
Li Z, Farias FHG, Dube U, Del-Aguila JL, Mihindukulasuriya KA, Fernandez MV, Ibanez L, Budde JP, Wang F, Lake AM, Deming Y, Perez J, Yang C, Bahena JA, Qin W, Bradley JL, Davenport R, Bergmann K, Morris JC, Perrin RJ, Benitez BA, Dougherty JD, Harari O, Cruchaga C. Li Z, et al. Among authors: cruchaga c. Acta Neuropathol. 2020 Jan;139(1):45-61. doi: 10.1007/s00401-019-02066-0. Epub 2019 Aug 27. Acta Neuropathol. 2020. PMID: 31456032 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: cruchaga c. 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.
Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition.
Kauwe JS, Cruchaga C, Mayo K, Fenoglio C, Bertelsen S, Nowotny P, Galimberti D, Scarpini E, Morris JC, Fagan AM, Holtzman DM, Goate AM. Kauwe JS, et al. Among authors: cruchaga c. Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8050-4. doi: 10.1073/pnas.0801227105. Epub 2008 Jun 9. Proc Natl Acad Sci U S A. 2008. PMID: 18541914 Free PMC article.
Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5.
Wang JC, Cruchaga C, Saccone NL, Bertelsen S, Liu P, Budde JP, Duan W, Fox L, Grucza RA, Kern J, Mayo K, Reyes O, Rice J, Saccone SF, Spiegel N, Steinbach JH, Stitzel JA, Anderson MW, You M, Stevens VL, Bierut LJ, Goate AM; COGEND collaborators and GELCC collaborators. Wang JC, et al. Among authors: cruchaga c. Hum Mol Genet. 2009 Aug 15;18(16):3125-35. doi: 10.1093/hmg/ddp231. Epub 2009 May 14. Hum Mol Genet. 2009. PMID: 19443489 Free PMC article.
Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease.
Kauwe JS, Bertelsen S, Mayo K, Cruchaga C, Abraham R, Hollingworth P, Harold D, Owen MJ, Williams J, Lovestone S, Morris JC, Goate AM; Alzheimer's Disease Neuroimaging Initiative. Kauwe JS, et al. Among authors: cruchaga c. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):955-9. doi: 10.1002/ajmg.b.31053. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20029940 Free PMC article.
SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease.
Cruchaga C, Kauwe JS, Mayo K, Spiegel N, Bertelsen S, Nowotny P, Shah AR, Abraham R, Hollingworth P, Harold D, Owen MM, Williams J, Lovestone S, Peskind ER, Li G, Leverenz JB, Galasko D; Alzheimer's Disease Neuroimaging Initiative; Morris JC, Fagan AM, Holtzman DM, Goate AM. Cruchaga C, et al. PLoS Genet. 2010 Sep 16;6(9):e1001101. doi: 10.1371/journal.pgen.1001101. PLoS Genet. 2010. PMID: 20862329 Free PMC article.
Human apoE isoforms differentially regulate brain amyloid-β peptide clearance.
Castellano JM, Kim J, Stewart FR, Jiang H, DeMattos RB, Patterson BW, Fagan AM, Morris JC, Mawuenyega KG, Cruchaga C, Goate AM, Bales KR, Paul SM, Bateman RJ, Holtzman DM. Castellano JM, et al. Among authors: cruchaga c. Sci Transl Med. 2011 Jun 29;3(89):89ra57. doi: 10.1126/scitranslmed.3002156. Sci Transl Med. 2011. PMID: 21715678 Free PMC article.
441 results