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The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts.
Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, Morris CM, Trojanowski JQ, Clark C, Karlawish J, Arnold S, Forman MS, Van Deerlin V, de Silva R, Hardy J. Myers AJ, et al. Among authors: pittman am. Neurobiol Dis. 2007 Mar;25(3):561-70. doi: 10.1016/j.nbd.2006.10.018. Epub 2006 Dec 15. Neurobiol Dis. 2007. PMID: 17174556
The H1c haplotype at the MAPT locus is associated with Alzheimer's disease.
Myers AJ, Kaleem M, Marlowe L, Pittman AM, Lees AJ, Fung HC, Duckworth J, Leung D, Gibson A, Morris CM, de Silva R, Hardy J. Myers AJ, et al. Among authors: pittman am. Hum Mol Genet. 2005 Aug 15;14(16):2399-404. doi: 10.1093/hmg/ddi241. Epub 2005 Jul 6. Hum Mol Genet. 2005. PMID: 16000317
Tangle diseases and the tau haplotypes.
Hardy J, Pittman A, Myers A, Fung HC, de Silva R, Duckworth J. Hardy J, et al. Alzheimer Dis Assoc Disord. 2006 Jan-Mar;20(1):60-2. doi: 10.1097/01.wad.0000201853.54493.d8. Alzheimer Dis Assoc Disord. 2006. PMID: 16493238
The tau H2 haplotype is almost exclusively Caucasian in origin.
Evans W, Fung HC, Steele J, Eerola J, Tienari P, Pittman A, Silva Rd, Myers A, Vrieze FW, Singleton A, Hardy J. Evans W, et al. Neurosci Lett. 2004 Oct 21;369(3):183-5. doi: 10.1016/j.neulet.2004.05.119. Neurosci Lett. 2004. PMID: 15464261
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration.
Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, Duckworth J, Leung D, Williams D, Kilford L, Thomas N, Morris CM, Dickson D, Wood NW, Hardy J, Lees AJ, de Silva R. Pittman AM, et al. J Med Genet. 2005 Nov;42(11):837-46. doi: 10.1136/jmg.2005.031377. Epub 2005 Mar 25. J Med Genet. 2005. PMID: 15792962 Free PMC article.
121 results