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Molecular Medicine

  1. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

    Brown, S. J. & 31 others Pohler, E., Mamai, O., Hirst, J., Zamiri, M., Horn, H., Nomura, T., Irvine, A. D., Moran, B., Wilson, N. J., Smith, F. J. D., Goh, C. S. M., Sandilands, A., Cole, C., Barton, G. J., Evans, A. T., Shimizu, H., Akiyama, M., Suehiro, M., Konohana, I., Shboul, M., Teissier, S., Boussofara, L., Denguezli, M., Saad, A., Gribaa, M., Dopping-Hepenstal, P. J., McGrath, J. A., Goudie, D. R., Reversade, B., Munro, C. S. & McLean, W. H. I. Nov 2012 In : Nature Genetics. 44, 11, p. 1272-1276 5 p.

    Research output: Contribution to journalArticle

  2. Haploinsufficiency for alpha- and gamma-adaptin binding protein (AAGAB) p34 causes clinically heterogeneous forms of punctate palmoplantar keratoderma

    Pohler, E., Mamai, O., Hirst, J., Zamiri, M., Horn, H., Irvine, A. D., Nomura, T., McGrath, J. A., Munro, C. S. & McLean, W. Sep 2012 In : Journal of Investigative Dermatology. 132, p. S89-S89 1 p.

    Research output: Contribution to journalMeeting abstract

  3. Influenza A viruses control expression of proviral human p53 isoforms p53β and Delta133p53α

    Terrier, O., Marcel, V., Cartet, G., Lane, D. P., Lina, B., Rosa-Calatrava, M. & Bourdon, J-C. Aug 2012 In : Journal of Virology. 86, 16, p. 8452-8460 9 p.

    Research output: Contribution to journalArticle

  4. Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

    Sandilands, A., Brown, S. J., Goh, C. S., Pohler, E., Wilson, N. J., Campbell, L. E., Miyamoto, K., Kubo, A., Irvine, A. D., Thawer-Esmail, F., Munro, C. S., McLean, W. H. I., Kudoh, J., Amagai, M. & Matsui, T. May 2012 In : Journal of Investigative Dermatology. 132, 5, p. 1507-1510 4 p.

    Research output: Contribution to journalLetter

  5. The p53 isoforms are differentially modified by Mdm2

    Camus, S., Menendez, S., Fernandes, K., Kua, N., Liu, G., Xirodimas, D. P., Lane, D. P. & Bourdon, J-C. 15 Apr 2012 In : Cell Cycle. 11, 8, p. 1646-1655 10 p.

    Research output: Contribution to journalArticle

  6. Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect

    Brown, S. J., Kroboth, K., Sandilands, A., Campbell, L. E., Pohler, E., Kezic, S., Cordell, H. J., McLean, W. H. I. & Irvine, A. D. Jan 2012 In : Journal of Investigative Dermatology. 132, 1, p. 98-104 7 p.

    Research output: Contribution to journalArticle

  7. C-terminal phosphorylation of Hsp70 and Hsp90 regulates alternate binding to co-chaperones CHIP and HOP to determine cellular protein folding/degradation balances

    Muller, P., Ruckova, E., Halada, P., Coates, P. J., Hrstka, R., Lane, D. P. & Vojtesek, B. 2012 In : Oncogene.

    Research output: Contribution to journalArticle

  8. Diverse p63 and p73 isoforms regulate Delta 133p53 expression through modulation of the internal TP53 promoter activity

    Marcel, V., Petit, I., Murray-Zmijewski, F., Goullet De Rugy, T., Fernandes, K., Meuray, V., Diot, A., Lane, D. P., Aberdam, D. & Bourdon, J-C. 2012 In : Cell Death & Differentiation. 19, 5, p. 816-826 11 p.

    Research output: Contribution to journalArticle

  9. Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa

    Ng, Y-Z., Pourreyron, C., Salas-Alanis, J. C., Dayal, J. H. S., Cepeda-Valdes, R., Yan, W., Wright, S., Chen, M., Fine, J-D., Hogg, F. J., McGrath, J. A., Murrell, D. F., Leigh, I. M., Lane, E. B. & South, A. P. 2012 In : Cancer Research. 72, 14, p. 3522-3534 13 p.

    Research output: Contribution to journalArticle

  10. Heterogeneity of p53-pathway Protein Expression in Chemosensitive Chronic Lymphocytic Leukemia: A Pilot Study

    Groves, M. J., Maccallum, S. F., Boylan, M. T., Haydock, S., Cunningham, J., Gelly, K., Gowans, D., Kerr, R., Coates, P. J. & Tauro, S. 2012 In : Journal of Cancer. 3, p. 354-361 8 p.

    Research output: Contribution to journalArticle

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