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Journal of Investigative Dermatology

  1. 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

  2. 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

  3. 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

  4. 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

  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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

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