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Page 1
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Talkowski ME, Maussion G, Crapper L, Rosenfeld JA, Blumenthal I, Hanscom C, Chiang C, Lindgren A, Pereira S, Ruderfer D, Diallo AB, Lopez JP, Turecki G, Chen ES, Gigek C, Harris DJ, Lip V, An Y, Biagioli M, Macdonald ME, Lin M, Haggarty SJ, Sklar P, Purcell S, Kellis M, Schwartz S, Shaffer LG, Natowicz MR, Shen Y, Morton CC, Gusella JF, Ernst C. Talkowski ME, et al. Among authors: macdonald me. Am J Hum Genet. 2012 Dec 7;91(6):1128-34. doi: 10.1016/j.ajhg.2012.10.016. Am J Hum Genet. 2012. PMID: 23217328 Free PMC article.
Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy.
Lee JM, Galkina EI, Levantovsky RM, Fossale E, Anne Anderson M, Gillis T, Srinidhi Mysore J, Coser KR, Shioda T, Zhang B, Furia MD, Derry J, Kohane IS, Seong IS, Wheeler VC, Gusella JF, MacDonald ME. Lee JM, et al. Among authors: macdonald me. Hum Mol Genet. 2013 Aug 15;22(16):3227-38. doi: 10.1093/hmg/ddt176. Epub 2013 Apr 16. Hum Mol Genet. 2013. PMID: 23595883 Free PMC article.
Huntingtin facilitates polycomb repressive complex 2.
Seong IS, Woda JM, Song JJ, Lloret A, Abeyrathne PD, Woo CJ, Gregory G, Lee JM, Wheeler VC, Walz T, Kingston RE, Gusella JF, Conlon RA, MacDonald ME. Seong IS, et al. Among authors: macdonald me. Hum Mol Genet. 2010 Feb 15;19(4):573-83. doi: 10.1093/hmg/ddp524. Epub 2009 Nov 23. Hum Mol Genet. 2010. PMID: 19933700 Free PMC article.
Meclizine is neuroprotective in models of Huntington's disease.
Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha VK. Gohil VM, et al. Among authors: macdonald me. Hum Mol Genet. 2011 Jan 15;20(2):294-300. doi: 10.1093/hmg/ddq464. Epub 2010 Oct 25. Hum Mol Genet. 2011. PMID: 20977989 Free PMC article.
HD CAG-correlated gene expression changes support a simple dominant gain of function.
Jacobsen JC, Gregory GC, Woda JM, Thompson MN, Coser KR, Murthy V, Kohane IS, Gusella JF, Seong IS, MacDonald ME, Shioda T, Lee JM. Jacobsen JC, et al. Among authors: macdonald me. Hum Mol Genet. 2011 Jul 15;20(14):2846-60. doi: 10.1093/hmg/ddr195. Epub 2011 May 2. Hum Mol Genet. 2011. PMID: 21536587 Free PMC article.
Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.
Lee JM, Gillis T, Mysore JS, Ramos EM, Myers RH, Hayden MR, Morrison PJ, Nance M, Ross CA, Margolis RL, Squitieri F, Griguoli A, Di Donato S, Gomez-Tortosa E, Ayuso C, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali M, Jones R, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente D, Harrison MB, Zanko A, Abramson RK, Marder K, Sequeiros J, MacDonald ME, Gusella JF. Lee JM, et al. Among authors: macdonald me. Am J Hum Genet. 2012 Mar 9;90(3):434-44. doi: 10.1016/j.ajhg.2012.01.005. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387017 Free PMC article.
430 results