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Journal of Investigative Dermatology

  1. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

    Yu, X., Chen, F., Ni, C., Zhang, G., Zheng, L., Zhang, J., Li, C., Sandilands, A., Yao, Z. & Li, M. Jan 2018 In : Journal of Investigative Dermatology. 138, 1, p. 230-233 4 p.

    Research output: Contribution to journalLetter

  2. Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia

    Takeichi, T. , Torrelo, A. , Lee, J. Y. W. , Ohno, Y. , Lozano, M. L. , Kihara, A. , Liu, L. , Yasuda, Y. , Ishikawa, J. , Murase, T. , Rodrigo, A. B. , Fernández-Crehuet, P. , Toi, Y. , Mellerio, J. E. , Rivera, J. , Vicente, V. , Kelsell, D. P. , Nishimura, Y. , Okuno, Y. , Kojima, D. & 6 others Ogawa, Y., Sugiura, K., Simpson, M. A., McLean, W. H. I., Akiyama, M. & McGrath, J. A. Nov 2017 In : Journal of Investigative Dermatology. 137, 11, p. 2344-2353 10 p.

    Research output: Contribution to journalArticle

  3. Gentamicin-induced readthrough and nonsense-mediated mRNA decay of SERPINB7 nonsense mutant transcripts

    Ohguchi, Y., Nomura, T., Suzuki, S., Takeda, M., Miyauchi, T., Mizuno, O., Shinkuma, S., Fujita, Y., Nemoto, O., Ono, K., McLean, W. H. I. & Shimizu, H. 26 Oct 2017 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  4. The micro-evolution and epidemiology of Staphylococcus aureus colonization during atopic eczema disease flare

    Harkins, C., Pettigrew, K. A., Oravcová, K., Gardner, J., Hearn, R. M. R., Rice, D., Mather, A. E., Parkhill, J., Brown, S., Proby, C. & Holden, M. T. G. 23 Sep 2017 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  5. Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis

    Bochner, R. , Samuelov, L. , Sarig, O. , Li, Q. , Adase, C. A. , Isakov, O. , Malchin, N. , Vodo, D. , Shayevitch, R. , Peled, A. , Yu, B. D. , Fainberg, G. , Warshauer, E. , Adir, N. , Erez, N. , Gat, A. , Gottlieb, Y. , Rogers, T. , Pavlovsky, M. , Goldberg, I. & 9 others Shomron, N., Sandilands, A., Campbell, L. E., MacCallum, S., McLean, W. H. I., Ast, G., Gallo, R. L., Uitto, J. & Sprecher, E. Feb 2017 In : Journal of Investigative Dermatology. 137, 2, p. 385-393 9 p.

    Research output: Contribution to journalArticle

  6. MEK is a therapeutic and chemopreventative target in squamous cell carcinoma

    Adelmann, C. H., Truong, K. A., Liang, R. J., Bansal, V., Gandee, L., Saporito, R., Lee, W., Du, L., Nicholas, C., Napoli, M., Mino, B., South, A. P., Proby, C. M., Leigh, I. M., Coarfa, C., Flores, E. R. & Tsai, K. Y. Sep 2016 In : Journal of Investigative Dermatology. 136, 9, p. 1920-1924 5 p.

    Research output: Contribution to journalLetter

  7. WNT Signaling in Cutaneous Squamous Cell Carcinoma: A Future Treatment Strategy?

    Sherwood, V. & Leigh, I. Sep 2016 In : Journal of Investigative Dermatology. 136, 9, p. 1760-1767 8 p.

    Research output: Contribution to journalReview article

  8. The European Union's investment and future role in dermatologic research

    Leigh, I. M. Jul 2016 In : Journal of Investigative Dermatology. 136, 7, p. 1307-1310 4 p.

    Research output: Contribution to journalEditorial

  9. The p.Glu477Lys mutation in keratin 5 is strongly associated with mortality in generalized severe epidermolysis bullosa simplex

    Sathishkumar, D., Orrin, E., Terron-Kwiatkowski, A., Browne, F., Martinez, A. E., Mellerio, J. E., Ogboli, M., Hoey, S., Ozoemena, L., Liu, L., Baty, D., McGrath, J. A. & Moss, C. Mar 2016 In : Journal of Investigative Dermatology. 136, 3, p. 719-721 3 p.

    Research output: Contribution to journalLetter

  10. Too much, too little or just enough: a Goldilocks effect for IL-13 and skin barrier regulation?

    Strid, J., McLean, W. H. I. & Irvine, A. D. Mar 2016 In : Journal of Investigative Dermatology. 136, 3, p. 561-564 4 p.

    Research output: Contribution to journalComment/debate

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