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Discovery of a new hereditary RECQ helicase disorder RECON syndrome positions the replication stress response and genome homeostasis as centrally important processes in aging and age-related disease.
Ageing Res Rev. 2023 Apr;86:101887. doi: 10.1016/j.arr.2023.101887. Epub 2023 Feb 19.
Ageing Res Rev. 2023.
PMID: 36805074
Free PMC article.
Review.
The Promotion of Genomic Instability in Human Fibroblasts by Adenovirus 12 Early Region 1B 55K Protein in the Absence of Viral Infection.
Abualfaraj T, Hagkarim NC, Hollingworth R, Grange L, Jhujh S, Stewart GS, Grand RJ.
Abualfaraj T, et al.
Viruses. 2021 Dec 6;13(12):2444. doi: 10.3390/v13122444.
Viruses. 2021.
PMID: 34960712
Free PMC article.
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RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.
Abu-Libdeh B, Jhujh SS, Dhar S, Sommers JA, Datta A, Longo GM, Grange LJ, Reynolds JJ, Cooke SL, McNee GS, Hollingworth R, Woodward BL, Ganesh AN, Smerdon SJ, Nicolae CM, Durlacher-Betzer K, Molho-Pessach V, Abu-Libdeh A, Meiner V, Moldovan GL, Roukos V, Harel T, Brosh RM Jr, Stewart GS.
Abu-Libdeh B, et al. Among authors: jhujh ss.
J Clin Invest. 2022 Mar 1;132(5):e147301. doi: 10.1172/JCI147301.
J Clin Invest. 2022.
PMID: 35025765
Free PMC article.
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Cancer-Associated SF3B1 Mutations Confer a BRCA-Like Cellular Phenotype and Synthetic Lethality to PARP Inhibitors.
Lappin KM, Barros EM, Jhujh SS, Irwin GW, McMillan H, Liberante FG, Latimer C, La Bonte MJ, Mills KI, Harkin DP, Stewart GS, Savage KI.
Lappin KM, et al. Among authors: jhujh ss.
Cancer Res. 2022 Mar 1;82(5):819-830. doi: 10.1158/0008-5472.CAN-21-1843.
Cancer Res. 2022.
PMID: 35027467
Free PMC article.
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Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GÁ, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yüksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS.
Grange LJ, et al. Among authors: jhujh ss.
Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8.
Nat Commun. 2022.
PMID: 36333305
Free PMC article.
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The structural mechanism of dimeric DONSON in replicative helicase activation.
Cvetkovic MA, Passaretti P, Butryn A, Reynolds-Winczura A, Kingsley G, Skagia A, Fernandez-Cuesta C, Poovathumkadavil D, George R, Chauhan AS, Jhujh SS, Stewart GS, Gambus A, Costa A.
Cvetkovic MA, et al. Among authors: jhujh ss.
Mol Cell. 2023 Nov 16;83(22):4017-4031.e9. doi: 10.1016/j.molcel.2023.09.029. Epub 2023 Oct 10.
Mol Cell. 2023.
PMID: 37820732
Free article.
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