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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. 9 Sep 2017 In : Journal of Investigative Dermatology.

    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. 31 Jul 2017 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. The Growing Spectrum of Cutaneous RASopathy

    van Steensel, M. A. M. Feb 2016 In : Journal of Investigative Dermatology. 136, 2, p. 359-360 2 p.

    Research output: Contribution to journalComment/debate

  10. 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

  11. Correlation between reversal of DNA methylation and clinical symptoms in psoriatic epidermis following narrow-band UVB phototherapy

    Gu, X., Nylander, E., Coates, P. J., Fahraeus, R. & Nylander, K. Aug 2015 In : Journal of Investigative Dermatology. 135, 8, p. 2077-2083 7 p.

    Research output: Contribution to journalArticle

  12. 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

  13. Insight from the air-skin interface

    O'Shaughnessy, R. F. L. & Brown, S. J. Feb 2015 In : Journal of Investigative Dermatology. 135, 2, p. 331-333 3 p.

    Research output: Contribution to journalComment/debate

  14. NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis

    South, A. P., Purdie, K. J., Watt, S. A., Haldenby, S., den Breems, N., Dimon, M., Arron, S. T., Kluk, M. J., Aster, J. C., McHugh, A., Xue, D. J., Dayal, J. H. S., Robinson, K. S., Rizvi, S. M. H., Proby, C. M., Harwood, C. A. & Leigh, I. M. Oct 2014 In : Journal of Investigative Dermatology. 134, 10, p. 2630-2638

    Research output: Contribution to journalArticle

  15. Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

    Campbell, P. , Morton, P. E. , Takeichi, T. , Salam, A. , Roberts, N. , Proudfoot, L. E. , Mellerio, J. E. , Aminu, K. , Wellington, C. , Patil, S. N. , Akiyama, M. , Liu, L. , McMillan, J. R. , Aristodemou, S. , Ishida-Yamamoto, A. , Abdul-Wahab, A. , Petrof, G. , Fong, K. , Harnchoowong, S. , Stone, K. L. & 5 others Harper, J. I., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A. Oct 2014 In : Journal of Investigative Dermatology. 134, 10, p. 2570-2578 9 p.

    Research output: Contribution to journalArticle

  16. Regenerative Hair Waves in Aging Mice and Extra-Follicular Modulators Follistatin, Dkk1 and Sfrp4

    Chen, C-C., Murray, P. J., Jiang, T. X., Plikus, M. V., Chang, Y-T., Lee, O. K., Widelitz, R. B. & Chuong, C. M. Aug 2014 In : Journal of Investigative Dermatology. 134, 8, p. 2086-2096 11 p.

    Research output: Contribution to journalArticle

  17. BPAG1-e restricts keratinocyte migration through control of adhesion stability

    Michael, M., Begum, R., Fong, K., Pourreyrone, C., South, A. P., McGrath, J. A. & Parsons, M. Mar 2014 In : Journal of Investigative Dermatology. 134, 3, p. 773-782 10 p.

    Research output: Contribution to journalArticle

  18. Report of the 10th annual international pachyonychia congenita consortium meeting

    van Steensel, M., Coulombe, P. A., Kaspar, R. L., Milstone, L. M., McLean, I. W. H., Roop, D. R., Smith, F. J. D., Sprecher, E. & Schwartz, M. E. Mar 2014 In : Journal of Investigative Dermatology. 134, 3, p. 588-91 4 p.

    Research output: Contribution to journalArticle

  19. Atopic dermatitis and disease severity are the main risk factors for food sensitization in exclusively breastfed infants

    Flohr, C., Perkin, M., Logan, K., Marrs, T., Radulovic, S., Campbell, L. E., Maccallum, S. F., McLean, W. H. I. & Lack, G. Feb 2014 In : Journal of Investigative Dermatology. 134, 2, p. 345-350 6 p.

    Research output: Contribution to journalArticle

  20. Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients

    Bolling, M. C., Jongbloed, J. D. H., Boven, L. G., Diercks, G. F. H., Smith, F. J. D., McLean, W. H. I. & Jonkman, M. F. 2014 In : Journal of Investigative Dermatology. 134, 1, p. 273-276 4 p.

    Research output: Contribution to journalLetter

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