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Journal Abstract Search

452 related items for PubMed ID: 31607598

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  • 2. Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out.
    Loupe JM, Pinto RM, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, MacDonald ME.
    Hum Mol Genet; 2020 Nov 04; 29(18):3044-3053. PubMed ID: 32876667
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  • 3. Approaches to Sequence the HTT CAG Repeat Expansion and Quantify Repeat Length Variation.
    Ciosi M, Cumming SA, Chatzi A, Larson E, Tottey W, Lomeikaite V, Hamilton G, Wheeler VC, Pinto RM, Kwak S, Morton AJ, Monckton DG.
    J Huntingtons Dis; 2021 Nov 04; 10(1):53-74. PubMed ID: 33579864
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  • 4. Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.
    Ruiz de Sabando A, Ciosi M, Galbete A, Cumming SA, Spanish HD Collaborative Group, Monckton DG, Ramos-Arroyo MA.
    Eur J Hum Genet; 2024 Jul 04; 32(7):770-778. PubMed ID: 38433266
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  • 6. A CAG repeat threshold for therapeutics targeting somatic instability in Huntington's disease.
    Aldous SG, Smith EJ, Landles C, Osborne GF, Cañibano-Pico M, Nita IM, Phillips J, Zhang Y, Jin B, Hirst MB, Benn CL, Bond BC, Edelmann W, Greene JR, Bates GP.
    Brain; 2024 May 03; 147(5):1784-1798. PubMed ID: 38387080
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  • 7. FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat.
    Goold R, Flower M, Moss DH, Medway C, Wood-Kaczmar A, Andre R, Farshim P, Bates GP, Holmans P, Jones L, Tabrizi SJ.
    Hum Mol Genet; 2019 Feb 15; 28(4):650-661. PubMed ID: 30358836
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  • 9. Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease.
    Wright GEB, Collins JA, Kay C, McDonald C, Dolzhenko E, Xia Q, Bečanović K, Drögemöller BI, Semaka A, Nguyen CM, Trost B, Richards F, Bijlsma EK, Squitieri F, Ross CJD, Scherer SW, Eberle MA, Yuen RKC, Hayden MR.
    Am J Hum Genet; 2019 Jun 06; 104(6):1116-1126. PubMed ID: 31104771
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  • 10. Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches.
    Pinto RM, Dragileva E, Kirby A, Lloret A, Lopez E, St Claire J, Panigrahi GB, Hou C, Holloway K, Gillis T, Guide JR, Cohen PE, Li GM, Pearson CE, Daly MJ, Wheeler VC.
    PLoS Genet; 2013 Oct 06; 9(10):e1003930. PubMed ID: 24204323
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  • 11. Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of Huntington disease.
    Ferguson R, Goold R, Coupland L, Flower M, Tabrizi SJ.
    Am J Hum Genet; 2024 Jun 06; 111(6):1165-1183. PubMed ID: 38749429
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  • 15. DNA repair in the trinucleotide repeat disorders.
    Jones L, Houlden H, Tabrizi SJ.
    Lancet Neurol; 2017 Jan 06; 16(1):88-96. PubMed ID: 27979358
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  • 17. FAN1 controls mismatch repair complex assembly via MLH1 retention to stabilize CAG repeat expansion in Huntington's disease.
    Goold R, Hamilton J, Menneteau T, Flower M, Bunting EL, Aldous SG, Porro A, Vicente JR, Allen ND, Wilkinson H, Bates GP, Sartori AA, Thalassinos K, Balmus G, Tabrizi SJ.
    Cell Rep; 2021 Aug 31; 36(9):109649. PubMed ID: 34469738
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  • 19. Association of CAG Repeat Length in the Huntington Gene With Cognitive Performance in Young Adults.
    Schultz JL, Saft C, Nopoulos PC.
    Neurology; 2021 May 11; 96(19):e2407-e2413. PubMed ID: 33692166
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  • 20. A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry.
    Dawson J, Baine-Savanhu FK, Ciosi M, Maxwell A, Monckton DG, Krause A.
    HGG Adv; 2022 Oct 13; 3(4):100130. PubMed ID: 35935919
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