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Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
van Schie JJM, Faramarz A, Balk JA, Stewart GS, Cantelli E, Oostra AB, Rooimans MA, Parish JL, de Almeida Estéves C, Dumic K, Barisic I, Diderich KEM, van Slegtenhorst MA, Mahtab M, Pisani FM, Te Riele H, Ameziane N, Wolthuis RMF, de Lange J. van Schie JJM, et al. Among authors: stewart gs. Nat Commun. 2020 Aug 27;11(1):4287. doi: 10.1038/s41467-020-18066-8. Nat Commun. 2020. PMID: 32855419 Free PMC article.
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.
Baxley RM, Leung W, Schmit MM, Matson JP, Yin L, Oram MK, Wang L, Taylor J, Hedberg J, Rogers CB, Harvey AJ, Basu D, Taylor JC, Pagnamenta AT, Dreau H, Craft J, Ormondroyd E, Watkins H, Hendrickson EA, Mace EM, Orange JS, Aihara H, Stewart GS, Blair E, Cook JG, Bielinsky AK. Baxley RM, et al. Among authors: stewart gs. Nat Commun. 2021 Mar 12;12(1):1626. doi: 10.1038/s41467-021-21878-x. Nat Commun. 2021. PMID: 33712616 Free PMC article.
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: stewart gs. Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8. Nat Commun. 2022. PMID: 36333305 Free PMC article.
PALB2 variant status in hematological malignancies - a potential therapeutic target?
Oldreive CE, Byrd PJ, Stewart GS, Taylor AJ, Farhat S, Skowronska A, Smith E, Raghavan M, Janic D, Dokmanovic L, Clokie S, Davies N, Kwok M, Pratt G, Paneesha S, Moss P, Stankovic T, Taylor M. Oldreive CE, et al. Among authors: stewart gs. Leuk Lymphoma. 2019 Jul;60(7):1823-1826. doi: 10.1080/10428194.2018.1551539. Epub 2019 Jan 7. Leuk Lymphoma. 2019. PMID: 30614742 No abstract available.
232 results