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2022 3
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Page 1
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.
USP37 prevents premature disassembly of stressed replisomes by TRAIP.
Kochenova OV, D'Alessandro G, Pilger D, Schmid E, Richards SL, Garcia MR, Jhujh SS, Voigt A, Gupta V, Carnie CJ, Alex Wu R, Gueorguieva N, Lam S, Stewart GS, Walter JC, Jackson SP. Kochenova OV, et al. Among authors: jhujh ss. Nat Commun. 2025 Jun 18;16(1):5333. doi: 10.1038/s41467-025-60139-z. Nat Commun. 2025. PMID: 40533495 Free PMC article.
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.
Woodward BL, Lahiri S, Chauhan AS, Garcia MR, Goodley LE, Clarke TL, Pal M, Agathanggelou A, Jhujh SS, Ganesh AN, Hollins FM, Deforie VG, Maroofian R, Efthymiou S, Meinhardt A, Mathew CG, Simpson MA, Mefford HC, Faqeih EA, Rosenzweig SD, Volpi S, Di Matteo G, Cancrini C, Scardamaglia A, Shackley F, Davies EG, Ibrahim S, Arkwright PD, Zaki MS, Stankovic T, Taylor AMR, Mazur AJ, Di Donato N, Houlden H, Rothenberg E, Stewart GS. Woodward BL, et al. Among authors: jhujh ss. Nat Commun. 2025 May 14;16(1):4491. doi: 10.1038/s41467-025-59553-0. Nat Commun. 2025. PMID: 40368919 Free PMC article.
PCNA-binding activity separates RNF168 functions in DNA replication and DNA double-stranded break signaling.
Yang Y, Jayaprakash D, Jhujh SS, Reynolds JJ, Chen S, Gao Y, Anand JR, Mutter-Rottmayer E, Ariel P, An J, Cheng X, Pearce KH, Blanchet SA, Nandakumar N, Zhou P, Fradet-Turcotte A, Stewart GS, Vaziri C. Yang Y, et al. Among authors: jhujh ss. Nucleic Acids Res. 2024 Nov 27;52(21):13019-13035. doi: 10.1093/nar/gkae918. Nucleic Acids Res. 2024. PMID: 39445802 Free PMC article.
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.
Hough SH, Jhujh SS, Awwad SW, Lewis OE, Lam S, Thomas JC, Mosler T, Bader A, Bartik L, McKee S, Amudhavalli S, Colin E, Damseh N, Clement E, Cacheiro P, Majumdar A, Smedley D, Fluss J, Giannini R, Thiffault I, Zagnoli Vieira G, Belotserkovskaya R, Smerdon SJ, Beli P, Galanty Y, Carnie CJ, Stewart GS, Jackson SP. Hough SH, et al. Among authors: jhujh ss. EMBO Mol Med. 2025 Dec 19. doi: 10.1038/s44321-025-00352-x. Online ahead of print. EMBO Mol Med. 2025. PMID: 41420108 Free article.
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 PMC article.
12 results