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Page 1
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.
Fletcher SC, Hall C, Kennedy TJ, Pajusalu S, Wojcik MH, Boora U, Li C, Oja KT, Hendrix E, Westrip CA, Andrijes R, Piasecka SK, Singh M, El-Asrag ME, Ptasinska A, Tillmann V, Higgs MR, Carere DA, Beggs AD, Pappas J, Rabin R, Smerdon SJ, Stewart GS, Õunap K, Coleman ML. Fletcher SC, et al. Among authors: stewart gs. J Clin Invest. 2023 Apr 3;133(7):e152784. doi: 10.1172/JCI152784. J Clin Invest. 2023. PMID: 36795492 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.
MYBL2 and ATM suppress replication stress in pluripotent stem cells.
Blakemore D, Vilaplana-Lopera N, Almaghrabi R, Gonzalez E, Moya M, Ward C, Murphy G, Gambus A, Petermann E, Stewart GS, García P. Blakemore D, et al. Among authors: stewart gs. EMBO Rep. 2021 May 5;22(5):e51120. doi: 10.15252/embr.202051120. Epub 2021 Mar 28. EMBO Rep. 2021. PMID: 33779025 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: stewart gs. 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.
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.
232 results