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Pathogenic CANVAS (AAGGG)n repeats stall DNA replication due to the formation of alternative DNA structures.
Hisey JA, Radchenko EA, Ceschi S, Rastokina A, Mandel NH, McGinty RJ, Matos-Rodrigues G, Hernandez A, Nussenzweig A, Mirkin SM. Hisey JA, et al. Among authors: nussenzweig a. bioRxiv [Preprint]. 2023 Jul 26:2023.07.25.550509. doi: 10.1101/2023.07.25.550509. bioRxiv. 2023. Update in: Nucleic Acids Res. 2024 May 8;52(8):4361-4374. doi: 10.1093/nar/gkae124 PMID: 37546920 Free PMC article. Updated. Preprint.
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus.
Pellerin D, Del Gobbo GF, Couse M, Dolzhenko E, Nageshwaran SK, Cheung WA, Xu IRL, Dicaire MJ, Spurdens G, Matos-Rodrigues G, Stevanovski I, Scriba CK, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Agarwal A, Peter C, Hasson D, Tsankova NM, Dewar K, Lamont PJ, Laing NG, Renaud M, Houlden H, Synofzik M, Usdin K, Nussenzweig A, Napierala M, Chen Z, Jiang H, Deveson IW, Ravenscroft G, Akbarian S, Eberle MA, Boycott KM, Pastinen T; All of Us Research Program Long Read Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: nussenzweig a. Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5. Epub 2024 Jun 27. Nat Genet. 2024. PMID: 38937606 Free PMC article.
Comprehensive mapping of cell fates in microsatellite unstable cancer cells support dual targe6ng of WRN and ATR.
Zong D, Koussa NC, Cornwell JA, Pankajam AV, Kruhlak MJ, Wong N, Chari R, Cappell SD, Nussenzweig A. Zong D, et al. Among authors: nussenzweig a. bioRxiv [Preprint]. 2023 Jul 30:2023.07.28.550976. doi: 10.1101/2023.07.28.550976. bioRxiv. 2023. Update in: Genes Dev. 2023 Oct 1;37(19-20):913-928. doi: 10.1101/gad.351085.123 PMID: 37662356 Free PMC article. Updated. Preprint.
SOD1 is a synthetic-lethal target in PPM1D-mutant leukemia cells.
Zhang L, Hsu JI, Braekeleer ED, Chen CW, Patel TD, Martell AG, Guzman AG, Wohlan K, Waldvogel SM, Uryu H, Tovy A, Callen E, Murdaugh RL, Richard R, Jansen S, Vissers L, de Vries BBA, Nussenzweig A, Huang S, Coarfa C, Anastas J, Takahashi K, Vassiliou G, Goodell MA. Zhang L, et al. Among authors: nussenzweig a. Elife. 2024 Jun 18;12:RP91611. doi: 10.7554/eLife.91611. Elife. 2024. PMID: 38896450 Free PMC article.
240 results