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Journal of Investigative Dermatology

  1. 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. & 10 others Goldberg, I., Shomron, N., Sandilands, A., Campbell, L. E., MacCallum, S., McLean, W. H. I., Ast, G., Gallo, R. L., Uitto, J. & Sprecher, E. 18 Oct 2016 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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. & 6 others Stone, K. L., 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

  14. 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

  15. 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

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

    van Steensel, M. A. 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

  17. 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

  18. 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

  19. Heterozygous mutations in AAGAB cause type 1 punctate palmoplantar keratoderma with evidence for increased growth factor signaling

    Pohler, E., Zamiri, M., Harkins, C., Salas-Alanis, J. C., Perkins, W., Smith, F. J. D., McLean, W. H. I. & Brown, S. J. Dec 2013 In : Journal of Investigative Dermatology. 133, 12, p. 2805-2808 4 p.

    Research output: Contribution to journalLetter

  20. The pharmacogenetics of body odor: as easy as ABCC?

    Brown, S. Jul 2013 In : Journal of Investigative Dermatology. 133, 7, p. 1709-1711 3 p.

    Research output: Contribution to journalArticle

  21. Methylated tissue factor pathway inhibitor 2 (TFPI2) DNA in serum is a biomarker of metastatic melanoma

    Nigro, C. L., Wang, H., McHugh, A., Lattanzio, L., Matin, R., Harwood, C., Syed, N., Hatzimichael, E., Briasoulis, E., Merlano, M., Evans, A., Thompson, A., Leigh, I., Fleming, C., Inman, G. J., Proby, C. & Crook, T. May 2013 In : Journal of Investigative Dermatology. 133, 5, p. 1278-1285 8 p.

    Research output: Contribution to journalArticle

  22. A nonsense mutation in the mattrin gene causes the matted mouse phenotype and is a predisposing gene for atopic dermatitis in humans

    Goh, C. S., Saunders, S. P., Cole, C., Weidinger, S., Baurecht, H., Lee, Y., Reynolds, N. J., Barker, J. N., Cordell, H. J., Brown, S. J., Irvine, A. D., McLean, I., Sandilands, A. & Fallon, P. G. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S145 1 p., 854

    Research output: Contribution to journalMeeting abstract

  23. A two gene serum epigenetic signature detects metastatic melanoma with high sensitivity and specificity

    Wang, H., McHugh, A., Matin, R., Fleming, C., Leigh, I., Harwood, C., Inman, G., Crook, T. & Proby, C. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S235 1 p., 1379

    Research output: Contribution to journalMeeting abstract

  24. Aminoglycosides and non-aminoglycosides suppress premature stop mutations and restore type VII collagen function in RDEB

    Wang, X. Y., Cogan, J., Hou, Y. P., Khilili, M., Paparisto, E., South, A. P., Woodley, D. T. & Chen, M. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S141 1 p., 831

    Research output: Contribution to journalMeeting abstract

  25. Birt-hogg-dube syndrome is a novel ciliopathy

    Luijten, M., Claessens, T., Basten, S., Vernooij, M., Menko, F., Nookala, R., Scott, C., van Geel, M., Janssen, R., Easton, J., Vreeburg, M., Kamps, M., Land, S., Tee, A., Giles, R., Coull, B. & van Steensel, M. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S136 1 p., 800

    Research output: Contribution to journalMeeting abstract

  26. Cutaneous SCC and the RAS controversy

    McHugh, A. T., Purdie, K., Pourreyron, C., Watt, S., Rose, A., Leigh, I., Harwood, C., South, A. & Proby, C. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S66 1 p., 386

    Research output: Contribution to journalMeeting abstract

  27. Cutaneous squamous cell carcinoma carries the highest burden of mutation of any human tumor type and harbors prevalent mutations in CARD11 and CREBBP

    South, A. P., Watt, S. A., Purdie, K. J., Proby, C. M., Harwood, C. A. & Leigh, I. M. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S72 1 p., 427

    Research output: Contribution to journalMeeting abstract

  28. Cutaneous squamous cell carcinoma derived cell lines are more sensitive to the proteasome inhibitor bortezomib than normal skin cells

    Koerver, L., Tura, Z. H., Leigh, I. M., South, A. P. & Saville, M. K. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S183 1 p.

    Research output: Contribution to journalMeeting abstract

  29. Depletion of MRG-binding protein invokes TIP60 histone acetyltransferase-dependent apoptosis in cutaneous squamous cell carcinoma cells

    Watt, S. A., Arrand, K., Leigh, I. M. & South, A. P. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S71 1 p., 416

    Research output: Contribution to journalMeeting abstract

  30. Environmental factors have a profound effect on disease severity in skin barrier deficiency and eczema

    Fahy, C. M., Saunders, S. P., McLean, W. H., Irvine, A. D. & Fallon, P. G. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S136 1 p., 802

    Research output: Contribution to journalMeeting abstract

  31. Epidermal HIF-regulating PHD proteins (EGLNs): Response to hypoxia and link to skin pathology

    Weir, L., Robertson, D., Vass, K. & Panteleyev, A. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S115 1 p., 674

    Research output: Contribution to journalMeeting abstract

  32. Expanding the phenotypic spectrum of Olmsted Syndrome

    Wilson, N. J., Cole, C., Milstone, L. M., Hansen, C. D., Schwartz, M. E., McLean, W. H. & Smith, F. J. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S144 1 p., 847

    Research output: Contribution to journalMeeting abstract

  33. Expression microarray analysis identifies key processes in the transition from actinic keratosis to cutaneous squamous cell carcinoma

    Lambert, S. R., Mladkova, N., Gulati, A., Hamoudi, R., Purdie, K. J., Cerio, R., Leigh, I. M., Proby, C. M. & Harwood, C. A. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S67 1 p., 393

    Research output: Contribution to journalMeeting abstract

  34. Frontal fibrosing alopecia

    Becher, G. L., Holmes, S. & McLean, I. 2013 In : Journal of Investigative Dermatology. 133, 5, p. 1401 1 p., PO64

    Research output: Contribution to journalMeeting abstract

  35. 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

  36. Immunohistochemical assessment of MRG-binding protein and polo-like kinase 1 over-expression in human cutaneous SCC

    Harkins, C., Watt, S. A., Pourreyron, C., Leigh, I. M., Proby, C. M. & South, A. P. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S70 1 p., 414

    Research output: Contribution to journalMeeting abstract

  37. Impact assessment of energy efficient lamps on individuals with lupus erythematosus versus healthy individuals

    Fenton, L., Ferguson, J., Ibbotson, S. H., Dawe, R. S., Silburn, S. & Moseley, H. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S210 1 p., 1233

    Research output: Contribution to journalMeeting abstract

  38. Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis

    Fu, D. J., Thomson, C., Lunny, D. P., Dopping-Hepenstal, P. J., McGrath, J. A., Smith, F. J. D., McLean, W. H. I. & Leslie Pedrioli, D. M. 2013 In : Journal of Investigative Dermatology. n/a, n/a

    Research output: Contribution to journalArticle

  39. Keratinocyte response to environmental challenge: Cross-effects of hypoxia and calcium

    Weir, L., Robertson, D., Vass, K. & Panteleyev, A. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S115 1 p., 675

    Research output: Contribution to journalMeeting abstract

  40. MMP1, 2 and 7 but not 9 or 13 promote cutaneous SCC keratinocyte invasion and migration

    Pourreyron, C., Pautu, V., Simons, M. R., Proby, C. M., Leigh, I. M. & South, A. P. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S156 1 p., 917

    Research output: Contribution to journalMeeting abstract

  41. 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

  42. Mutant p53 in cutaneous squamous cell carcinoma

    Saundh, H., Leigh, I. M., South, A. P. & Saville, M. K. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S70 1 p., 413

    Research output: Contribution to journalMeeting abstract

  43. RNA trans-splicing molecules for targeted suicide gene delivery into cancer cells

    Gruber, C., Koller, U., Hainzl, S., Murauer, E. M., Huettner, C., South, A. P., Hintner, H. & Bauer, J. W. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S64 1 p., 375

    Research output: Contribution to journalMeeting abstract

  44. RNAi depletion of PRSS21 in cutaneous squamous cell carcinoma keratinocytes induces maspin dependent apoptosis

    Robinson, K. S., Watt, S. A., Leigh, I. M. & South, A. P. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S72 1 p., 423

    Research output: Contribution to journalMeeting abstract

  45. The development of cutaneous squamous lesions in patients treated with vemurafenib: a possible role for human papillomavirus in addition to activated RAS

    Purdie, K., South, A., Sommerlad, M., Leigh, I., Proby, C. & Harwood, C. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S61 1 p., 357

    Research output: Contribution to journalMeeting abstract

  46. Topical formulation for delivery of therapeutic RNA into the epidermis

    Hegde, V., Nainamalai, S., Campbell, P. A., Smith, F. J., McLean, I. & Pedrioli, D. M. L. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S143 1 p., 844

    Research output: Contribution to journalMeeting abstract

  47. Transplantation of hair follicle dermal cells as a therapeutic approach for recessive dystrophic epidermolysis bullosa

    Gledhill, K., Bruckner-Tuderman, L., Christiano, A., South, A. P. & Jahoda, C. A. 2013 In : Journal of Investigative Dermatology. 133, 5, p. 1429 1 p., P226

    Research output: Contribution to journalMeeting abstract

  48. Type VII collagen regulates front-to-rear polarity in primary cutaneous squamous cell carcinoma keratinocytes

    Dayal, J. H., Pourreyron, C., Watt, S. A., Leigh, I. M. & South, A. P. 2013 In : Journal of Investigative Dermatology. 133, S1, p. S157 1 p., 921

    Research output: Contribution to journalMeeting abstract

  49. What Lies Beneath? Scanning Probe Tomography May Have the Answer

    Conneely, M. J. & Campbell, P. A. 2013 In : Journal of Investigative Dermatology. 133, 6, p. 1458-1460 3 p.

    Research output: Contribution to journalComment/debate

  50. Heritable filaggrin disorders: the paradigm of atopic dermatitis

    McLean, W. H. I. & Irvine, A. D. Nov 2012 In : Journal of Investigative Dermatology. 132, E1, p. E20-E21 2 p.

    Research output: Contribution to journalArticle

  51. Exome level sequencing identifies candidate genes mutated in cutaneous squamous cell carcinoma progression

    South, A. P., Purdie, K. J., Watt, S. A., Harwood, C. A., Proby, C. & Leigh, I. M. Sep 2012 In : Journal of Investigative Dermatology. 132, p. S37-S37 1 p.

    Research output: Contribution to journalMeeting abstract

  52. Expression of activated NOTCH1 induces terminal differentiation in squamous cell carcinoma keratinocytes

    Robinson, K. S., Purdie, K. J., Cho, R. J., Aster, J. C., Leigh, I. M. & South, A. P. Sep 2012 In : Journal of Investigative Dermatology. 132, p. S40-S40 1 p.

    Research output: Contribution to journalMeeting abstract

  53. 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

  54. Impact Assessment of Energy Saving Lamps on Photosensitive Skin

    Fenton, L., Ferguson, J., Ibbotson, S. & Moseley, H. Sep 2012 In : Journal of Investigative Dermatology. 132, p. S122-S122 1 p.

    Research output: Contribution to journalMeeting abstract

  55. Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder

    Leslie Pedrioli, D. M., Fu, D. J., Gonzalez-Gonzalez, E., Contag, C. H., Kaspar, R. L., Smith, F. J. D. & McLean, W. H. I. Jun 2012 In : Journal of Investigative Dermatology. 132, 6, p. 1627-1635 9 p.

    Research output: Contribution to journalArticle

  56. Dermal matrix composition promotes development of aggressive squamous cell carcinoma in recessive dystrophic epidermolysis bullosa

    Ng, Y., Pourreyron, C., Salas-Alanis, J., Cepeda-Valdes, R., Yan, W., Wright, S., Chen, M., Hogg, F., McGrath, J., Murrell, D., Leigh, I., Lane, E. & South, A. May 2012 In : Journal of Investigative Dermatology. 132, p. S20-S20 1 p.

    Research output: Contribution to journalArticle

  57. Expanding the differential diagnosis for pachyonychia congenita

    Wilson, N. J., Hansen, C. D., Azkur, D., Kocabas, C. N., Metin, A., Coskun, Z., Schwartz, M. E., Hull, P. R., McLean, W. H. & Smith, F. J. May 2012 In : Journal of Investigative Dermatology. 132, p. S70-S70 1 p.

    Research output: Contribution to journalArticle

  58. Filaggrin mutations: Prognosis and response to therapy overtime

    Margolis, D. J., Mitra, N., Sandilands, A., McLean, I. & Rebbeck, T. May 2012 In : Journal of Investigative Dermatology. 132, p. S41-S41 1 p.

    Research output: Contribution to journalArticle

  59. 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

  60. Next-generation sequencing identifies Notch receptors as integral tumor suppressors in cutaneous and lung squamous cell carcinomas

    Leigh, I. M. & 24 others Wang, N. J., Sanborn, Z., Arnett, K. L., Bayston, L. J., Liao, W., Proby, C. M., Gordon, P. B., Sharma, M., North, J. P., Vemula, S. S., Mauro, T. M., Neuhaus, I. M., LeBoit, P. E., Kwok, P., Arron, S. T., Bale, A. E., Haussler, D., Cleaver, J. E., Gray, J. W., Spellman, P. T., South, A. P., Aster, J. C., Blacklow, S. C. & Cho, R. J. May 2012 In : Journal of Investigative Dermatology. 132, p. S23-S23 1 p.

    Research output: Contribution to journalArticle

  61. Novel Molecular Therapies for Heritable Skin Disorders

    Uitto, J., Christiano, A. M., McLean, W. H. I. & McGrath, J. A. Mar 2012 In : Journal of Investigative Dermatology. 132, 3, p. 820-828 9 p.

    Research output: Contribution to journalReview article

  62. One remarkable molecule: filaggrin

    Brown, S. J. & McLean, W. H. I. Mar 2012 In : Journal of Investigative Dermatology. 132, 3, p. 751-762 12 p.

    Research output: Contribution to journalArticle

  63. Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect

    Brown, S. J., Kroboth, K., Sandilands, A., Campbell, L. E., Pohler, E., Kezic, S., Cordell, H. J., McLean, W. H. I. & Irvine, A. D. Jan 2012 In : Journal of Investigative Dermatology. 132, 1, p. 98-104 7 p.

    Research output: Contribution to journalArticle

  64. Development of lentiviral gene therapy for type VII collagen deficient epidermolysis bullosa

    Georgiadis, C., Thrasher, A., South, A. P., McGrath, J., Qasim, W. & Di, W. 2012 In : Journal of Investigative Dermatology. 132, S2, p. S96 1 p., 546

    Research output: Contribution to journalMeeting abstract

  65. Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita

    Wilson, N. J., Pérez, M. L. C., Vahlquist, A., Schwartz, M. E., Hansen, C. D., McLean, W. H. I. & Smith, F. J. D. 2012 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalLetter

  66. MC1R determines melanocyte viability upon UV irradiation by protecting PTEN activity

    Cao, J., Liu, F., Shen, J., Lenna, S., Jimenez-Cervantes, S., Leslie, N., Xu, G. X., Wang, Y. & Cui, R. 2012 In : Journal of Investigative Dermatology. 132, S1, p. S126 1 p., 739

    Research output: Contribution to journalArticle

  67. Protective effect of human endogenous retrovirus K dUTPase variants on psoriasis susceptibility

    Lai, O. Y., Chen, H., Michaud, H-A., Hayashi, G., Kuebler, P. J., Hultman, G. K., Ariza, M-E., Williams, M. V., Batista, M. D., Nixon, D. F., Foerster, J., Bowcock, A. M. & Liao, W. 2012 In : Journal of Investigative Dermatology. 132, 7, p. 1833-1840 8 p.

    Research output: Contribution to journalArticle

  68. Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex

    Atkinson, S. D., McGilligan, V. E., Liao, H., Szeverenyi, I., Smith, F. J. D., Moore, C. B. T. & McLean, W. H. I. Oct 2011 In : Journal of Investigative Dermatology. 131, 10, p. 2079-2086 8 p.

    Research output: Contribution to journalArticle

  69. Cutaneous Squamous Cell Carcinoma exhibits significant tumour heterogeneity

    Murray, S., Foster, N., Leigh, I., Pratt, N. & South, A. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S81-S81 1 p.

    Research output: Contribution to journalBook/Film/Article review

  70. Epigenetic Dysregulation of Novel Genes in Melanoma

    Wang, H., McHugh, A., Matin, R., Fleming, C., Leigh, I., Harwood, C., Crook, T., Inman, G. & Proby, C. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S114-S114 1 p.

    Research output: Contribution to journalBook/Film/Article review

  71. Extracellular matrix composition in dermal microenvironment is implicated in development of life threatening cutaneous squamous cell carcinoma

    Ng, Y. Z., Pourreyron, C., Salas-Alanis, J. C., Murrell, D. F., McGrath, J. A., Lane, E. B. & South, A. P. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S32-S32 1 p., 190

    Research output: Contribution to journalBook/Film/Article review

  72. HIF pathway in epidermal keratinocytes is controlled by Egln3 and Siah1 proteins

    Weir, L., Robertson, D., Leigh, I., Vass, K. & Panteleyev, A. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S3-S3 1 p.

    Research output: Contribution to journalBook/Film/Article review

  73. High Resolution Genomic Profiling of Vulval Neoplasia Reveals Genetic Differences between Human Papillomavirus-Associated and Human Papillomavirus-Independent Tumours

    Purdie, K., Gibbon, K., Chaplin, T., Young, B., Leigh, I., Proby, C. & Harwood, C. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S29-S29 1 p.

    Research output: Contribution to journalBook/Film/Article review

  74. Identification of Differentially Methylated Genes in Cutaneous Squamous Cell Carcinoma from Epidermolysis Bullosa Patients and Normal Population

    Mladkova, N., McHugh, A., Down, T., Rakyan, V., Proby, C. & Harwood, C. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S24-S24 1 p.

    Research output: Contribution to journalBook/Film/Article review

  75. Protein tyrosine phosphatase receptor type delta (PTPRD) stable knockdown leads to increased proliferation in cSCC-derived keratinocytes

    Romanowska, M., Lambert, S. R., Foerster, J. P., Purdie, K. J., Harwood, C. A. & Proby, C. M. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S26-S26 1 p.

    Research output: Contribution to journalBook/Film/Article review

  76. RHBDF2 mutations in Tylosis with Oesophageal Cancer cause dysregulation of downstream EGF and EphrinB3 signalling

    Etheridge, S., Blaydon, D., Risk, J., Hennies, H-C., Stevens, H., Field, J., Ellis, A., Leigh, I., South, A. & Kelsell, D. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S63-S63 1 p.

    Research output: Contribution to journalBook/Film/Article review

  77. RNAi depletion of PRSS21 induces apoptosis in cutaneous squamous cell carcinoma keratinocytes

    Robinson, K., Watt, S., South, A. & Leigh, I. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S27-S27 1 p.

    Research output: Contribution to journalBook/Film/Article review

  78. Specific upregulation of non-canonical wnt signalling in non-melanoma skin cancer: Wnt 5a is strongly expressed and controls directional migration

    Pourreyron, C., McLean, K., Reilly, L., Proby, C., Panteleyev, A., Evans, A., Leigh, I., South, A. & Foerster, J. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S28-S28 1 p.

    Research output: Contribution to journalBook/Film/Article review

  79. The aryl hydrocarbon receptor is active in normal epidermal keratinocytes and is involved in the regulation of AREG and epidermal differentiation genes

    Robertson, D., Weir, L. & Panteleyev, A. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S57-S57 1 p., 342

    Research output: Contribution to journalBook/Film/Article review

  80. Wnt5a inhibits maturation and interferon alpha production by human plasmacytoid dendritic cells

    Hack, K., Proby, C., Fleming, C., Leigh, I., McLean, K., Reilly, L. & Foerster, J. Sep 2011 In : Journal of Investigative Dermatology. 131, p. S91-S91 1 p.

    Research output: Contribution to journalBook/Film/Article review

  81. Obtaining DNA in the mail from a national sample of children with a chronic non-fatal Illness

    Margolis, D. J., Papadopoulos, M., Apter, A. J., McLean, W. H. I., Mitra, N. & Rebbeck, T. R. Aug 2011 In : Journal of Investigative Dermatology. 131, 8, p. 1765-1767 3 p.

    Research output: Contribution to journalLetter

  82. Keratin 14-Null Cells as a Model to Test the Efficacy of Gene Therapy Approaches in Epithelial Cells

    D'Alessandro, M., Coats, S. E., Jonkmann, M. F., Leigh, I. M. & Lane, B. Jul 2011 In : Journal of Investigative Dermatology. 131, 7, p. 1412-1419 8 p.

    Research output: Contribution to journalArticle

  83. Filaggrin null mutations are not a protective factor for acne vulgaris

    Common, J. E. A., Brown, S. J., Haines, R. L., Goh, C. S. M., Chen, H., Balakrishnan, A., Munro, C. S., Tan, A. W. H., Tan, H. H., Tang, M. B. Y. & Lane, E. B. Jun 2011 In : Journal of Investigative Dermatology. 131, 6, p. 1378-1380 3 p.

    Research output: Contribution to journalLetter

  84. A Large Mutational Study in Pachyonychia Congenita

    Wilson, N. J., Leachman, S. A., Hansen, C. D., McMullan, A. C., Milstone, L. M., Schwartz, M. E., McLean, W. H. I., Hull, P. R. & Smith, F. J. D. May 2011 In : Journal of Investigative Dermatology. 131, 5, p. 1018-1024 7 p.

    Research output: Contribution to journalArticle

  85. Conditional Activin Receptor Type 1B (Acvr1b) Knockout Mice reveal hair loss abnormality

    Qiu, W., Li, X., Tang, H., Huang, A. S., Panteleyev, A. A., Owens, D. M. & Su, G. H. May 2011 In : Journal of Investigative Dermatology. 131, 5, p. 1067-1076 10 p.

    Research output: Contribution to journalArticle

  86. Development of quantitative molecular clinical end points for siRNA clinical trials

    Hickerson, R. P., Leachman, S. A., Pho, L. N., Gonzalez-Gonzalez, E., Smith, F. J. D., McLean, W. H. I., Contag, C. H., Leake, D., Milstone, L. M. & Kaspar, R. L. May 2011 In : Journal of Investigative Dermatology. 131, 5, p. 1029-1036 8 p.

    Research output: Contribution to journalArticle

  87. Erythropoietic Uroporphyria Associated with Myeloid Malignancy Is Likely Distinct from Autosomal Recessive Congenital Erythropoietic Porphyria

    Sarkany, R. P. E., Ibbotson, S. H., Whatley, S. D., Lawrence, C. M., Gover, P., Mufti, G. J., Murphy, G. M., Masters, G. S., Badminton, M. N. & Elder, G. H. May 2011 In : Journal of Investigative Dermatology. 131, 5, p. 1172-1175 5 p.

    Research output: Contribution to journalLetter

  88. Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations

    Fu, T., Leachman, S. A., Wilson, N. J., Smith, F. J. D., Schwartz, M. E. & Tang, J. Y. May 2011 In : Journal of Investigative Dermatology. 131, 5, p. 1025-1028 4 p.

    Research output: Contribution to journalArticle

  89. Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita

    Zhao, Y., Gartner, U., Smith, F. J. D. & McLean, W. H. I. May 2011 In : Journal of Investigative Dermatology. 131, 5, p. 1045-1052 8 p.

    Research output: Contribution to journalArticle

  90. The phenotypic and molecular genetic features of pachyonychia congenita

    McLean, W. H. I., Hansen, C. D., Eliason, M. J. & Smith, F. J. D. May 2011 In : Journal of Investigative Dermatology. 131, 5, p. 1015-1017 3 p.

    Research output: Contribution to journalReview article

  91. Toward a Treatment for Pachyonychia Congenita: Report on the 7th Annual International Pachyonychia Congenita Consortium Meeting

    Kaspar, R. L., Leachman, S. A., McLean, W. H. I. & Schwartz, M. E. May 2011 In : Journal of Investigative Dermatology. 131, 5, p. 1011-1014 4 p.

    Research output: Contribution to journalComment/debate

  92. ARNT-dependent expression of amphiregulin and consequent activation of EGFR/Erk pathway is essential for normal epidermal differentiation

    Robertson, D., Weir, L., Leigh, I. M. & Panteleyev, A. A. Apr 2011 In : Journal of Investigative Dermatology. 131, p. S44-S44 1 p.

    Research output: Contribution to journalBook/Film/Article review

  93. Copy number variation within the filaggrin gene contributes to risk of atopic dermatitis

    Brown, S. J., Kroboth, K., Sandilands, A., Campbell, L. E., Pohler, E., Irvine, A. D., Cordell, H. J. & McLean, W. Apr 2011 In : Journal of Investigative Dermatology. 131, Supplement 1, p. S63-S63 1 p., 375

    Research output: Contribution to journalBook/Film/Article review

  94. Developing small molecule drugs to rescue nonsense mutations in disease-causing genes

    Nomura, T., Gartner, U., McElroy, S., Torrie, L., Pourreyron, C., South, A. P., Wood, G., Woodland, A., Frearson, J., Wyatt, P. & McLean, I. Apr 2011 In : Journal of Investigative Dermatology. 131, p. S67-S67 1 p., 397

    Research output: Contribution to journalBook/Film/Article review

  95. Differential regulation of HIF-alpha splice variants by hypoxia in epidermal keratinocytes

    Weir, L., Robertson, D., Leigh, I. M., Vass, J. K. & Panteleyev, A. A. Apr 2011 In : Journal of Investigative Dermatology. 131, p. S44-S44 1 p.

    Research output: Contribution to journalBook/Film/Article review

  96. Egln/PHD proteins and their role in control of hypoxia pathway in epidermal keratinocytes

    Weir, L., Robertson, D., Leigh, I. M. & Panteleyev, A. A. Apr 2011 In : Journal of Investigative Dermatology. 131, p. S15-S15 1 p.

    Research output: Contribution to journalBook/Film/Article review

  97. Environmental influences on a model of atopic dermatitis

    Fahy, C. M., McLean, W. H., Irvine, A. D. & Fallon, P. G. Apr 2011 In : Journal of Investigative Dermatology. 131, p. S61-S61 1 p.

    Research output: Contribution to journalBook/Film/Article review

  98. The DSPII splice variant is critical for desmosome-mediated HaCaT keratinocyte adhesion

    Cabral, R. M., Tattersall, D., Patel, V., Hatzimasoura, E., Abrams, D. J., South, A. P. & Kelsell, D. P. Apr 2011 In : Journal of Investigative Dermatology. 131, p. S30-S30 1 p., 176

    Research output: Contribution to journalBook/Film/Article review

  99. Skin barrier function in healthy subjects and patients with atopic dermatitis in relation to filaggrin loss-of-function mutations

    Jakasa, I., Koster, E. S., Calkoen, F., McLean, W. H. I., Campbell, L. E., Bos, J. D., Verberk, M. M. & Kezic, S. Feb 2011 In : Journal of Investigative Dermatology. 131, 2, p. 540-542 3 p., Letter

    Research output: Contribution to journalLetter

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