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  1. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

    Samuelov, L. , Sarig, O. , Harmon, R. M. , Rapaport, D. , Ishida-Yamamoto, A. , Isakov, O. , Koetsier, J. L. , Gat, A. , Goldberg, I. , Bergman, R. , Spiegel, R. , Eytan, O. , Geller, S. , Peleg, S. , Shomron, N. , Goh, C. S. M. , Wilson, N. J. , Smith, F. J. D. , Pohler, E. , Simpson, M. A. & 6 others McLean, W. H. I., Irvine, A. D., Horowitz, M., McGrath, J. A., Green, K. J. & Sprecher, E. 2013 In : Nature Genetics.

    Research output: Contribution to journalLetter

  2. Detecting and quantifying p53 isoforms at mRNA level in cell lines and tissues

    Khoury, M. P., Marcel, V., Fernandes, K., Diot, A., Lane, D. P. & Bourdon, J-C. 2013 p53 protocols. Deb, S. & Deb, S. P. (eds.). Totowa, N.J.: Humana Press, Vol. 962, p. 1-14 14 p. (Methods in Molecular Biology).

    Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

  3. Detecting p53 isoforms at protein level

    Marcel, V., Khoury, M. P., Fernandes, K., Diot, A., Lane, D. P. & Bourdon, J-C. 2013 p53 protocols. Deb, S. & Deb, S. P. (eds.). Totowa, N.J.: Humana Press, Vol. 962, p. 15-29 15 p. (Methods in Molecular Biology).

    Research output: Chapter in Book/Report/Conference proceedingChapter (peer-reviewed)

  4. Dysregulation of autophagy in chronic lymphocytic leukemia with the small-molecule Sirtuin inhibitor Tenovin-6

    MacCallum, S. F., Groves, M. J., James, J., Murray, K., Appleyard, V., Prescott, A. R., Drbal, A. A., Nicolaou, A., Cunningham, J., Haydock, S., Ganley, I. G., Westwood, N. J., Coates, P. J., Lain, S. & Tauro, S. 2013 In : Scientific Reports. 3, 1275

    Research output: Contribution to journalArticle

  5. Heterozygous loss-of-function mutations in the AAGAB gene cause punctate palmoplantar keratoderma type 1 and impair receptor tyrosine kinase protein turnover

    Pohler, E., Harkins, C., Salas, J., Zamiri, M., Wilson, N. J., Smith, F. J., Brown, S. J. & McLean, I. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S146 1 p.863

    Research output: Contribution to journalMeeting abstract

  6. Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to Known TGFBR1 mutations suggest a digenic or multilocus etiology

    Chung Kang, H., Quigley, D. A., Kim, I-J., Wakabayashi, Y., Ferguson-Smith, M. A., D'Alessandro, M., Lane, B., Akhurst, R. J., Goudie, D. R. & Balmain, A. 2013 In : Journal of Investigative Dermatology. 133, 7, p. 1907-1910 4 p.

    Research output: Contribution to journalArticle

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

    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. & 12 others Teissier, S., Boussofara, L., Denguezli, M., Saad, A., Gribaa, M., Dopping-Hepenstal, P. J., McGrath, J. A., Brown, S. J., 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

  8. 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

  9. 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

  10. 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

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