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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. 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.
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: seong is. 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.
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: seong is. 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.
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.
Biagioli M, Ferrari F, Mendenhall EM, Zhang Y, Erdin S, Vijayvargia R, Vallabh SM, Solomos N, Manavalan P, Ragavendran A, Ozsolak F, Lee JM, Talkowski ME, Gusella JF, Macdonald ME, Park PJ, Seong IS. Biagioli M, et al. Among authors: seong is. Hum Mol Genet. 2015 May 1;24(9):2442-57. doi: 10.1093/hmg/ddv006. Epub 2015 Jan 8. Hum Mol Genet. 2015. PMID: 25574027 Free PMC article.
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.
Jung R, Lee Y, Barker D, Correia K, Shin B, Loupe J, Collins RL, Lucente D, Ruliera J, Gillis T, Mysore JS, Rodan L, Picker J, Lee JM, Howland D, Lee R, Kwak S, MacDonald ME, Gusella JF, Seong IS. Jung R, et al. Among authors: seong is. Hum Mol Genet. 2021 Apr 26;30(3-4):135-148. doi: 10.1093/hmg/ddaa283. Hum Mol Genet. 2021. PMID: 33432339 Free PMC article.
61 results