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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: grange lj. J Clin Invest. 2022 Mar 1;132(5):e147301. doi: 10.1172/JCI147301. J Clin Invest. 2022. PMID: 35025765 Free PMC article.
ATRX proximal protein associations boast roles beyond histone deposition.
Scott WA, Dhanji EZ, Dyakov BJA, Dreseris ES, Asa JS, Grange LJ, Mirceta M, Pearson CE, Stewart GS, Gingras AC, Campos EI. Scott WA, et al. Among authors: grange lj. PLoS Genet. 2021 Nov 15;17(11):e1009909. doi: 10.1371/journal.pgen.1009909. eCollection 2021 Nov. PLoS Genet. 2021. PMID: 34780483 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. Nat Commun. 2022 Nov 4;13(1):6664. doi: 10.1038/s41467-022-34349-8. Nat Commun. 2022. PMID: 36333305 Free PMC article.
Biogeochemical consequences of a changing Arctic shelf seafloor ecosystem.
März C, Freitas FS, Faust JC, Godbold JA, Henley SF, Tessin AC, Abbott GD, Airs R, Arndt S, Barnes DKA, Grange LJ, Gray ND, Head IM, Hendry KR, Hilton RG, Reed AJ, Rühl S, Solan M, Souster TA, Stevenson MA, Tait K, Ward J, Widdicombe S. März C, et al. Among authors: grange lj. Ambio. 2022 Feb;51(2):370-382. doi: 10.1007/s13280-021-01638-3. Epub 2021 Oct 9. Ambio. 2022. PMID: 34628602 Free PMC article.
28 results