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Page 1
RNase H2, mutated in Aicardi-Goutières syndrome, promotes LINE-1 retrotransposition.
Benitez-Guijarro M, Lopez-Ruiz C, Tarnauskaitė Ž, Murina O, Mian Mohammad M, Williams TC, Fluteau A, Sanchez L, Vilar-Astasio R, Garcia-Canadas M, Cano D, Kempen MH, Sanchez-Pozo A, Heras SR, Jackson AP, Reijns MA, Garcia-Perez JL. Benitez-Guijarro M, et al. Among authors: fluteau a. EMBO J. 2018 Aug 1;37(15):e98506. doi: 10.15252/embj.201798506. Epub 2018 Jun 29. EMBO J. 2018. PMID: 29959219 Free PMC article.
Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.
Mackenzie KJ, Carroll P, Lettice L, Tarnauskaitė Ž, Reddy K, Dix F, Revuelta A, Abbondati E, Rigby RE, Rabe B, Kilanowski F, Grimes G, Fluteau A, Devenney PS, Hill RE, Reijns MA, Jackson AP. Mackenzie KJ, et al. Among authors: fluteau a. EMBO J. 2016 Apr 15;35(8):831-44. doi: 10.15252/embj.201593339. Epub 2016 Feb 22. EMBO J. 2016. PMID: 26903602 Free PMC article.
CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
Zimmermann M, Murina O, Reijns MAM, Agathanggelou A, Challis R, Tarnauskaitė Ž, Muir M, Fluteau A, Aregger M, McEwan A, Yuan W, Clarke M, Lambros MB, Paneesha S, Moss P, Chandrashekhar M, Angers S, Moffat J, Brunton VG, Hart T, de Bono J, Stankovic T, Jackson AP, Durocher D. Zimmermann M, et al. Among authors: fluteau a. Nature. 2018 Jul;559(7713):285-289. doi: 10.1038/s41586-018-0291-z. Epub 2018 Jul 4. Nature. 2018. PMID: 29973717 Free PMC article.
cGAS surveillance of micronuclei links genome instability to innate immunity.
Mackenzie KJ, Carroll P, Martin CA, Murina O, Fluteau A, Simpson DJ, Olova N, Sutcliffe H, Rainger JK, Leitch A, Osborn RT, Wheeler AP, Nowotny M, Gilbert N, Chandra T, Reijns MAM, Jackson AP. Mackenzie KJ, et al. Among authors: fluteau a. Nature. 2017 Aug 24;548(7668):461-465. doi: 10.1038/nature23449. Epub 2017 Jul 24. Nature. 2017. PMID: 28738408 Free PMC article.
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MAM, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmüller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nürnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP. Harley ME, et al. Among authors: fluteau a. Nat Genet. 2016 Jan;48(1):36-43. doi: 10.1038/ng.3451. Epub 2015 Nov 23. Nat Genet. 2016. PMID: 26595769 Free PMC article.
Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.
Heyn P, Logan CV, Fluteau A, Challis RC, Auchynnikava T, Martin CA, Marsh JA, Taglini F, Kilanowski F, Parry DA, Cormier-Daire V, Fong CT, Gibson K, Hwa V, Ibáñez L, Robertson SP, Sebastiani G, Rappsilber J, Allshire RC, Reijns MAM, Dauber A, Sproul D, Jackson AP. Heyn P, et al. Among authors: fluteau a. Nat Genet. 2019 Jan;51(1):96-105. doi: 10.1038/s41588-018-0274-x. Epub 2018 Nov 26. Nat Genet. 2019. PMID: 30478443 Free PMC article.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Among authors: fluteau a. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study; Wood AJ, Vagnarelli P, Jackson AP. Martin CA, et al. Among authors: fluteau a. Genes Dev. 2016 Oct 1;30(19):2158-2172. doi: 10.1101/gad.286351.116. Epub 2016 Oct 13. Genes Dev. 2016. PMID: 27737959 Free PMC article.
Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.
Martin CA, Murray JE, Carroll P, Leitch A, MacKenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR; Deciphering Developmental Disorders Study,; Wood AJ, Vagnarelli P, Jackson AP. Martin CA, et al. Among authors: fluteau a. Genes Dev. 2017 May 1;31(9):953. doi: 10.1101/gad.300871.117. Genes Dev. 2017. PMID: 28566537 Free PMC article. No abstract available.
The nuclear retention of transcription factor FOXO3a correlates with a DNA damage response and increased glutamine synthetase expression by astrocytes suggesting a neuroprotective role in the ageing brain.
Fluteau A, Ince PG, Minett T, Matthews FE, Brayne C, Garwood CJ, Ratcliffe LE, Morgan S, Heath PR, Shaw PJ, Wharton SB, Simpson JE; MRC Cognitive Function Ageing Neuropathology Study Group. Fluteau A, et al. Neurosci Lett. 2015 Nov 16;609:11-7. doi: 10.1016/j.neulet.2015.10.001. Epub 2015 Oct 8. Neurosci Lett. 2015. PMID: 26455863 Free PMC article.