Edinburgh Research Explorer

Karen Mackenzie

ECAT SCREDS Clinical Lecturer in Clinical Genetics

  1. 2020
  2. Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

    Lepelley, A., Martin-niclós, M. J., Le Bihan, M., Marsh, J. A., Uggenti, C., Rice, G. I., Bondet, V., Duffy, D., Hertzog, J., Rehwinkel, J., Amselem, S., Boulisfane-el Khalifi, S., Brennan, M., Carter, E., Chatenoud, L., Chhun, S., Coulomb L’hermine, A., Depp, M., Legendre, M., Mackenzie, K. J. & 12 others, Marey, J., Mcdougall, C., Mckenzie, K. J., Molina, T. J., Neven, B., Seabra, L., Thumerelle, C., Wislez, M., Nathan, N., Manel, N., Crow, Y. J. & Frémond, M., 28 Jul 2020, In : Journal of Experimental Medicine. 217, 11

    Research output: Contribution to journalArticle

  3. 2017
  4. cGAS surveillance of micronuclei links genome instability to innate immunity

    Mackenzie, K. J., Carroll, P., Martin, C-A., Murina, O., Fluteau, A., Simpson, D. J., Olova, N., Sutcliffe, H., Rainger, J. K., Leitch, A., Osborn, R. T., Wheeler, A. P., Nowotny, M., Gilbert, N., Chandra, T., Reijns, M. A. M. & Jackson, A. P., 24 Aug 2017, In : Nature. 548, 7668, p. 461–465 5 p.

    Research output: Contribution to journalArticle

  5. Enteric helminth-induced type-I interferon signalling protects against pulmonary virus infection through interaction with the microbiota

    McFarlane, A., McSorley, H. J., Davidson, D. J., Fitch, P., Errington, C., Mackenzie, K., Gollwitzer, E. S., Johnston, C. J. C., MacDonald, A. S., Edwards, M. R., Harris, N., Marsland, B. J., Maizels, R. & Schwarze, J., 11 Feb 2017, In : Journal of Allergy and Clinical Immunology.

    Research output: Contribution to journalArticle

  6. 2016
  7. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

    The DDD Study, Wood, A. J., Vagnarelli, P. & Jackson, A. P., Oct 2016, In : Genes and Development. 30, 19, p. 2158-2172 15 p.

    Research output: Contribution to journalArticle

  8. Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response

    Mackenzie, K. J., Carroll, P., Lettice, L., Tarnauskaite, Z., Reddy, K., Dix, F., Revuelta, A., Abbondati, E., Rigby, R. E., Rabe, B., Kilanowski, F., Grimes, G. R., Fluteau, A., Devenney, P. S., Hill, R. E., Reijns, M. A. M. & Jackson, A. P., 15 Apr 2016, In : EMBO Journal. 35, 8, p. 831-844 14 p.

    Research output: Contribution to journalArticle

  9. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

    Harley, M. E., Murina, O., Leitch, A., Higgs, M., Bicknell, L. S., Yigit, G., Blackford, A., Zlatanou, A., Mackenzie, K. J., Reddy, K., Halachev, M., McGlasson, S., Reijns, M. A. M., Fluteau, A., Martin, C-A., Sabbioneda, S., Elcioglu, N. H., Altmuller, J., Thiele, H., Greenhalgh, L. & 10 others, Chessa, L., Maghnie, M., Salim, M., Bober, M. B., Nurnberg, P., Jackson, S. P., Hurles, M. E., Wollnik, B., Stewart, G. S. & Jackson, A. P., Jan 2016, In : Nature Genetics. 48, 1, p. 36-43 8 p.

    Research output: Contribution to journalArticle

  10. 2014
  11. Effector and central memory T helper 2 cells respond differently to peptide immunotherapy

    Mackenzie, K. J., Nowakowska, D. J., Leech, M. D., McFarlane, A. J., Wilson, C., Fitch, P. M., O'Connor, R. A., Howie, S. E. M., Schwarze, J. & Anderton, S. M., 25 Feb 2014, In : Proceedings of the National Academy of Sciences (PNAS). 111, 8, p. E784-E793 10 p.

    Research output: Contribution to journalArticle

  12. RNA: DNA hybrids are a novel molecular pattern sensed by TLR9

    Rigby, R. E., Webb, L. M., Mackenzie, K. J., Li, Y., Leitch, A., Reijns, M. A. M., Lundie, R. J., Revuelta, A., Davidson, D. J., Diebold, S., Modis, Y., Macdonald, A. S. & Jackson, A. P., 10 Feb 2014, In : EMBO Journal. 33, 7, p. 665 - 779

    Research output: Contribution to journalArticle

  13. Viral respiratory tract infections and asthma in early life: cause and effect?

    Mackenzie, K. J., Anderton, S. M. & Schwarze, J., Jan 2014, In : Clinical and Experimental Allergy. 44, 1, p. 9-19 11 p.

    Research output: Contribution to journalLiterature review

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