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CLS/MRI Molecular Medicine

  1. Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis

    Riethmuller, C., McAleer, M. A., Koppes, S. A., Abdayem, R., Franz, J., Haftek, M., Campbell, L. E., MacCallum, S. F., McLean, W. H. I., Irvine, A. D. & Kezic, S. Dec 2015 In : Journal of Allergy and Clinical Immunology. 136, 6, p. 1573-1580.e2 10 p.

    Research output: Contribution to journalArticle

  2. Expanding the phenotypic spectrum of Olmsted syndrome

    Wilson, N. J., Cole, C., Milstone, L. M., Kiszewski, A. E., Hansen, C. D., O'Toole, E. A., Schwartz, M. E., McLean, W. H. I. & Smith, F. J. D. Nov 2015 In : Journal of Investigative Dermatology. 135, 11, p. 2879-2883 5 p.

    Research output: Contribution to journalLetter

  3. Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

    McAleer, M. A., Pohler, E., Smith, F. J. D., Wilson, N. J., Cole, C., MacGowan, S., Koetsier, J. L., Godsel, L. M., Harmon, R. M., Gruber, R., Crumrine, D., Elias, P. M., McDermott, M., Butler, K., Broderick, A., Sarig, O., Sprecher, E., Green, K. J., McLean, W. H. I. & Irvine, A. D. Nov 2015 In : Journal of Allergy and Clinical Immunology. 136, 5, p. 1268-1276 9 p.

    Research output: Contribution to journalArticle

  4. Lysyl hydroxylase 3 localizes to epidermal basement membrane and Is reduced in patients with Recessive Dystrophic Epidermolysis Bullosa

    Watt, S. A., Dayal, J. H. S., Wright, S., Riddle, M., Pourreyron, C., McMillan, J. R., Kimble, R. M., Prisco, M., Gartner, U., Warbrick, E., McLean, W. H. I., Leigh, I. M., McGrath, J. A., Salas-Alanis, J. C., Tolar, J. & South, A. P. 18 Sep 2015 In : PLoS ONE. 10, 9, 15 p., e0137639

    Research output: Contribution to journalArticle

  5. Loss-of-function mutations in the gene encoding filaggrin are not strongly associated with chronic actinic dermatitis

    Harkins, C. P., Waters, A., Kerr, A., Campbell, L., McLean, W. H. I., Brown, S. J. & Ibbotson, S. H. Jul 2015 In : Journal of Investigative Dermatology. 135, 7, p. 1919-1921 3 p.

    Research output: Contribution to journalLetter

  6. Keratins and skin disease

    Knöbel, M., O’Toole, E. A. & Smith, F. J. D. Jun 2015 In : Cell and Tissue Research. 360, 3, p. 583-589 7 p.

    Research output: Contribution to journalArticle

  7. Mutations in GJB6 causing phenotype resembling pachyonychia congenita

    Hale, G. I., Wilson, N. J., Smith, F. J. D., Wylie, G., Schwartz, M. E. & Zamiri, M. May 2015 In : British Journal of Dermatology. 172, 5, p. 1447-1449 3 p.

    Research output: Contribution to journalLetter

  8. Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis

    Mizuno, O., Nomura, T., Ohguchi, Y., Suzuki, S., Nomura, Y., Hamade, Y., Hoshina, D., Sandilands, A., Akiyama, M., McLean, W. H. I., Abe, R. & Shimizu, H. Apr 2015 In : Journal of the European Academy of Dermatology and Venereology. 29, 4, p. 805-808 4 p.

    Research output: Contribution to journalArticle

  9. Skin barrier dysfunction measured by transepidermal water loss at 2 days and 2 months predates and predicts atopic dermatitis at 1 year

    Kelleher, M., Dunn-Galvin, A., Hourihane, J. O. B., Murray, D., Campbell, L. E., McLean, W. H. I. & Irvine, A. D. Apr 2015 In : Journal of Allergy and Clinical Immunology. 135, 4, p. 930-935.e1 6 p.

    Research output: Contribution to journalArticle

  10. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads

    Lin, Z. , Zhao, J. , Nitoiu, D. , Scott, C. A. , Plagnol, V. , Smith, F. J. D. , Wilson, N. J. , Cole, C. , Schwartz, M. E. , McLean, W. H. I. , Wang, H. , Feng, C. , Duo, L. , Zhou, E. Y. , Ren, Y. , Dai, L. , Chen, Y. , Zhang, J. , Xu, X. , O'Toole, E. A. & 2 others Kelsell, D. P. & Yang, Y. 5 Mar 2015 In : American Journal of Human Genetics. 96, 3, p. 440-447 8 p.

    Research output: Contribution to journalArticle

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