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Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects.
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium; Lee JM, McLean ZL, Correia K, Shin JW, Lee S, Jang JH, Lee Y, Kim KH, Choi DE, Long JD, Lucente D, Seong IS, Pinto RM, Giordano JV, Mysore JS, Siciliano J, Elezi E, Ruliera J, Gillis T, Wheeler VC, MacDonald ME, Gusella JF, Gatseva A, Ciosi M, Lomeikaite V, Loay H, Monckton DG, Wills C, Massey TH, Jones L, Holmans P, Kwak S, Sampaio C, Orth M, Bernhard Landwehrmeyer G, Paulsen JS, Ray Dorsey E, Myers RH. Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium, et al. Among authors: lee y, lee jm, lee s. bioRxiv [Preprint]. 2024 Jun 18:2024.06.10.597797. doi: 10.1101/2024.06.10.597797. bioRxiv. 2024. PMID: 38948755 Free PMC article. Preprint.
Genetic modifiers of Huntington's disease.
Gusella JF, MacDonald ME, Lee JM. Gusella JF, et al. Among authors: lee jm. Mov Disord. 2014 Sep 15;29(11):1359-65. doi: 10.1002/mds.26001. Epub 2014 Aug 25. Mov Disord. 2014. PMID: 25154728 Review.
Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.
Lee JM, Huang Y, Orth M, Gillis T, Siciliano J, Hong E, Mysore JS, Lucente D, Wheeler VC, Seong IS, McLean ZL, Mills JA, McAllister B, Lobanov SV, Massey TH, Ciosi M, Landwehrmeyer GB, Paulsen JS, Dorsey ER, Shoulson I, Sampaio C, Monckton DG, Kwak S, Holmans P, Jones L, MacDonald ME, Long JD, Gusella JF. Lee JM, et al. Am J Hum Genet. 2022 May 5;109(5):885-899. doi: 10.1016/j.ajhg.2022.03.004. Epub 2022 Mar 23. Am J Hum Genet. 2022. PMID: 35325614 Free PMC article.
Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's disease.
Choi DE, Shin JW, Zeng S, Hong EP, Jang JH, Loupe JM, Wheeler VC, Stutzman HE, Kleinstiver BP, Lee JM. Choi DE, et al. Among authors: lee jm. bioRxiv [Preprint]. 2023 Apr 28:2023.04.28.538700. doi: 10.1101/2023.04.28.538700. bioRxiv. 2023. Update in: Elife. 2024 Jun 13;12:RP89782. doi: 10.7554/eLife.89782 PMID: 37162872 Free PMC article. Updated. Preprint.
PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease.
McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Pinto RM, Gusella JF. McLean ZL, et al. Among authors: lee jm. bioRxiv [Preprint]. 2023 Jul 27:2023.07.25.550489. doi: 10.1101/2023.07.25.550489. bioRxiv. 2023. Update in: Nat Commun. 2024 Apr 12;15(1):3182. doi: 10.1038/s41467-024-47485-0 PMID: 37547003 Free PMC article. Updated. Preprint.
Population-specific genetic modification of Huntington's disease in Venezuela.
Chao MJ, Kim KH, Shin JW, Lucente D, Wheeler VC, Li H, Roach JC, Hood L, Wexler NS, Jardim LB, Holmans P, Jones L, Orth M, Kwak S, MacDonald ME, Gusella JF, Lee JM. Chao MJ, et al. Among authors: lee jm. PLoS Genet. 2018 May 11;14(5):e1007274. doi: 10.1371/journal.pgen.1007274. eCollection 2018 May. PLoS Genet. 2018. PMID: 29750799 Free PMC article.
Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's Disease.
Ellis N, Tee A, McAllister B, Massey T, McLauchlan D, Stone T, Correia K, Loupe J, Kim KH, Barker D, Hong EP, Chao MJ, Long JD, Lucente D, Vonsattel JPG, Pinto RM, Elneel KA, Ramos EM, Mysore JS, Gillis T, Wheeler VC, Medway C, Hall L, Kwak S, Sampaio C, Ciosi M, Maxwell A, Chatzi A, Monckton DG, Orth M, Landwehrmeyer GB, Paulsen JS, Shoulson I, Myers RH, van Duijn E, Rickards H, MacDonald ME, Lee JM, Gusella JF, Jones L, Holmans P. Ellis N, et al. Among authors: lee jm. Biol Psychiatry. 2020 May 1;87(9):857-865. doi: 10.1016/j.biopsych.2019.12.010. Epub 2019 Dec 17. Biol Psychiatry. 2020. PMID: 32087949 Free PMC article.
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects.
Kim KH, Hong EP, Shin JW, Chao MJ, Loupe J, Gillis T, Mysore JS, Holmans P, Jones L, Orth M, Monckton DG, Long JD, Kwak S, Lee R, Gusella JF, MacDonald ME, Lee JM. Kim KH, et al. Among authors: lee jm, lee r. Am J Hum Genet. 2020 Jul 2;107(1):96-110. doi: 10.1016/j.ajhg.2020.05.012. Epub 2020 Jun 25. Am J Hum Genet. 2020. PMID: 32589923 Free PMC article.
7,145 results