Home > Research > Browse

Results for Mutation

Publications & Outputs

  1. Biological insights from 108 schizophrenia-associated genetic loci

    Schizophrenia Working Group of the Psychiatric Genomics Consortium, 24/07/2014, In : Nature. 511, 7510, p. 421-427 7 p.

    Research output: Contribution to journalJournal article

  2. Arabidopsis phytochrome a is modularly structured to integrate the multiple features that are required for a highly sensitized phytochrome

    Oka, Y., Ono, Y., Toledo-Ortiz, G., Kokaji, K., Matsui, M., Mochizuki, N. & Nagatani, A., 07/2012, In : Plant Cell. 24, 7, p. 2949-2962 14 p.

    Research output: Contribution to journalJournal article

  3. Functional specialisation of yeast Rho1 GTP exchange factors

    Krause, S. A., Cundell, M. J., Poon, P. P., McGhie, J., Johnston, G. C., Price, C. & Gray, J. V., 1/06/2012, In : Journal of Cell Science. 125, 11, p. 2721-2731 11 p.

    Research output: Contribution to journalJournal article

  4. Estimating the Relative Roles of Recombination and Point Mutation in the Generation of Single Locus Variants in Campylobacter jejuni and Campylobacter coli

    Yu, S., Fearnhead, P., Holland, B. R., Biggs, P., Maiden, M. & French, N., 06/2012, In : Journal of Molecular Evolution. 74, 5-6, p. 273-280 8 p.

    Research output: Contribution to journalJournal article

  5. Normal X-inactivation mosaicism in corneas of heterozygous FlnaDilp2/+ female mice--a model of human filamin A (FLNA) diseases

    Douvaras, P., Liu, W., Mort, R. L., McKie, L., West, K. M., Cross, S. H., Morley, S. D. & West, J. D., 27/02/2012, In : BMC Research Notes. 5, 7 p., 122.

    Research output: Contribution to journalJournal article

  6. Subcellular sites of the signal transduction and degradation of phytochrome A

    Toledo-Ortiz, G., Kiryu, Y., Kobayashi, J., Oka, Y., Kim, Y., Nam, H. G., Mochizuki, N. & Nagatani, A., 10/2010, In : Plant & cell physiology. 51, 10, p. 1648-1660 13 p.

    Research output: Contribution to journalJournal article

  7. Targeting ADAM10 to lipid rafts in neuroblastoma SH-SY5Y cells impairs amyloidogenic processing of the amyloid precursor protein

    Harris, B., Pereira, I. & Parkin, E., 16/10/2009, In : Brain Research. 1296, n/a, p. 203-215 13 p.

    Research output: Contribution to journalJournal article

  8. High-throughput sequence analysis of variants of human cytomegalovirus strains Towne and AD169

    Bradley, A. J., Lurain, N. S., Ghazal, P., Trivedi, U., Cunningham, C., Baluchova, K., Gatherer, D., Wilkinson, G. W. G., Dargan, D. J. & Davison, A. J., 10/2009, In : Journal of General Virology. 90, 10, p. 2375-2380 6 p.

    Research output: Contribution to journalJournal article

  9. A disintegrin and metalloproteinase (ADAM)-mediated ectodomain shedding of ADAM10

    Parkin, E. & Harris, B., 03/2009, In : Journal of Neurochemistry. 108, 6, p. 1464-1479 16 p.

    Research output: Contribution to journalJournal article

  10. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration

    Simpson, C. L., Lemmens, R., Miskiewicz, K., Broom, W. J., Hansen, V. K., van Vught, P. W. J., Landers, J. E., Sapp, P., Van Den Bosch, L., Knight, J., Neale, B. M., Turner, M. R., Veldink, J. H., Ophoff, R. A., Tripathi, V. B., Beleza, A., Shah, M. N., Proitsi, P., Van Hoecke, A., Carmeliet, P. & 10 others, Horvitz, H. R., Leigh, P. N., Shaw, C. E., van den Berg, L. H., Sham, P. C., Powell, J. F., Verstreken, P., Brown, R. H., Robberecht, W. & Al-Chalabi, A., 1/02/2009, In : Human Molecular Genetics. 18, 3, p. 472-481 10 p.

    Research output: Contribution to journalJournal article

  11. Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region

    Wang, C. M., Dixon, P. H., Decordova, S., Hodges, M., Seibre, N. J., Ozalp, S., Fallahian, M., Sensi, A., Ashrafi, F., Repiska, V., Zhao, J., Xiang, Y., Savage, P. M., Seckl, M. J. & Fisher, R. A., 2009, In : Journal of Medical Genetics. 46, 8, p. 569-575 7 p.

    Research output: Contribution to journalJournal article

More results »