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Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME. Mostovoy Y, et al. Among authors: gusella j. Am J Hum Genet. 2024 Nov 5:S0002-9297(24)00375-6. doi: 10.1016/j.ajhg.2024.10.006. Online ahead of print. Am J Hum Genet. 2024. PMID: 39520989
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Kim KH, Hong EP, Lee Y, McLean ZL, Elezi E, Lee R, Kwak S, McAllister B, Massey TH, Lobanov S, Holmans P, Orth M, Ciosi M, Monckton DG, Long JD, Lucente D, Wheeler VC, MacDonald ME, Gusella JF, Lee JM. Kim KH, et al. Among authors: gusella jf. Proc Natl Acad Sci U S A. 2024 Apr 16;121(16):e2322924121. doi: 10.1073/pnas.2322924121. Epub 2024 Apr 12. Proc Natl Acad Sci U S A. 2024. PMID: 38607933 Free PMC article.
A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes.
Pao PC, Seo J, Lee A, Kritskiy O, Patnaik D, Penney J, Raju RM, Geigenmuller U, Silva MC, Lucente DE, Gusella JF, Dickerson BC, Loon A, Yu MX, Bula M, Yu M, Haggarty SJ, Tsai LH. Pao PC, et al. Among authors: gusella jf. Proc Natl Acad Sci U S A. 2023 Apr 18;120(16):e2217864120. doi: 10.1073/pnas.2217864120. Epub 2023 Apr 12. Proc Natl Acad Sci U S A. 2023. PMID: 37043533 Free PMC article.
Association of a polymorphism near CREB1 with differential aversion processing in the insula of healthy participants.
Perlis RH, Holt DJ, Smoller JW, Blood AJ, Lee S, Kim BW, Lee MJ, Sun M, Makris N, Kennedy DK, Rooney K, Dougherty DD, Hoge R, Rosenbaum JF, Fava M, Gusella J, Gasic GP, Breiter HC; Phenotype Genotype Project on Addiction and Mood Disorders. Perlis RH, et al. Among authors: gusella j. Arch Gen Psychiatry. 2008 Aug;65(8):882-92. doi: 10.1001/archgenpsychiatry.2008.3. Arch Gen Psychiatry. 2008. PMID: 18678793 Free PMC article.
Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts.
Liu G, Locascio JJ, Corvol JC, Boot B, Liao Z, Page K, Franco D, Burke K, Jansen IE, Trisini-Lipsanopoulos A, Winder-Rhodes S, Tanner CM, Lang AE, Eberly S, Elbaz A, Brice A, Mangone G, Ravina B, Shoulson I, Cormier-Dequaire F, Heutink P, van Hilten JJ, Barker RA, Williams-Gray CH, Marinus J, Scherzer CR; HBS; CamPaIGN; PICNICS; PROPARK; PSG; DIGPD; PDBP. Liu G, et al. Lancet Neurol. 2017 Aug;16(8):620-629. doi: 10.1016/S1474-4422(17)30122-9. Epub 2017 Jun 16. Lancet Neurol. 2017. PMID: 28629879 Free PMC article.
Towards Standardizing Nomenclature in Huntington's Disease Research.
DiFiglia M, Leavitt BR, Macdonald D, Thompson LM; Huntington’s Disease Nomenclature Working Group:. DiFiglia M, et al. J Huntingtons Dis. 2024;13(2):119-131. doi: 10.3233/JHD-240044. J Huntingtons Dis. 2024. PMID: 38968054 Free PMC article. Review.
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: gusella jf. bioRxiv [Preprint]. 2024 Jun 18:2024.06.10.597797. doi: 10.1101/2024.06.10.597797. bioRxiv. 2024. PMID: 38948755 Free PMC article. Preprint.
Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing.
Mouro Pinto R, Murtha R, Azevedo A, Douglas C, Kovalenko M, Ulloa J, Crescenti S, Burch Z, Oliver E, Vitalo A, Mota-Silva E, Riggs MJ, Correia K, Elezi E, Demelo B, Carroll JB, Gillis T, Gusella JF, MacDonald ME, Wheeler VC. Mouro Pinto R, et al. Among authors: gusella jf. bioRxiv [Preprint]. 2024 Jun 9:2024.06.08.597823. doi: 10.1101/2024.06.08.597823. bioRxiv. 2024. PMID: 38895438 Free PMC article. Preprint.
Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model.
Jiang A, You L, Handley RR, Hawkins V, Reid SJ, Jacobsen JC, Patassini S, Rudiger SR, Mclaughlan CJ, Kelly JM, Verma PJ, Bawden CS, Gusella JF, MacDonald ME, Waldvogel HJ, Faull RLM, Lehnert K, Snell RG. Jiang A, et al. Among authors: gusella jf. Hum Mol Genet. 2024 Aug 18;33(17):1524-1539. doi: 10.1093/hmg/ddae087. Hum Mol Genet. 2024. PMID: 38776957 Free PMC article.
626 results