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Journal of Investigative Dermatology

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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. 2014 In : Journal of Investigative Dermatology.

    Research output: Contribution to journalArticle

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

  43. 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

  44. 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

  45. 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

  46. 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

  47. 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

  48. 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

  49. 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

  50. 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 journalScientific review

  51. 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

  52. 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

  53. 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

  54. 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

  55. 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

  56. 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

  57. 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

  58. 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

  59. 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

  60. 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

  61. 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

  62. 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

  63. 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

  64. 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

  65. 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

  66. 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

  67. 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

  68. 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

  69. 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

  70. 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

  71. 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

  72. 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

  73. 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

  74. 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

  75. 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

  76. 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

  77. 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

  78. 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

  79. 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 journalScientific review

  80. 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

  81. 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

  82. 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

  83. 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

  84. 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

  85. 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

  86. 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

  87. 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

  88. 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

  89. Homozygosity of dominant missense mutations in keratin 17 leads to alopecia in addition to severe pachyonychia congenita

    Wilson, N. J., Hansen, C. D., Cardenas Perez, M. L., Vahlquist, A., Schwartz, M. E. & Smith, F. J. 2011 In : Journal of Investigative Dermatology. 131, S1, p. S67 1 p.402

    Research output: Contribution to journalMeeting abstract

  90. Non-aminoglycosides can restore type VII collagen function by overcoming premature stop mutations: implications for DEB therapy

    Cogan, I., Hou, Y., Wang, X., Du, L., Gatti, R., South, A., Woodley, D. & Chen, M. 2011 In : Journal of Investigative Dermatology. 131, S1, p. S65 1 p.387

    Research output: Contribution to journalBook/Film/Article review

  91. Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma

    Osawa, R., Konno, S., Akiyama, M., Nemoto-Hasebe, I., Nomura, T., Nomura, Y., Abe, R., Sandilands, A., McLean, W. H. I., Hizawa, N., Nishimura, M. & Shimizu, H. Dec 2010 In : Journal of Investigative Dermatology. 130, 12, p. 2834-2836 3 p.

    Research output: Contribution to journalLetter

  92. No Evidence That Human Papillomavirus Is Responsible for the Aggressive Nature of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma

    Purdie, K. J., Pourreyron, C., Fassihi, H., Cepeda-Valdes, R., Frew, J. W., Volz, A., Weissenborn, S. J., Pfister, H., Proby, C. M., Bruckner-Tuderman, L., Murrell, D. F., Salas-Alanis, J. C., McGrath, J. A., Leigh, I. M., Harwood, C. A. & South, A. P. Dec 2010 In : Journal of Investigative Dermatology. 130, 12, p. 2853-2855 4 p.

    Research output: Contribution to journalLetter

  93. Activation of wnt5a in epidermis triggers massive hypersensitivity to double-stranded RNA

    Reilly, L., Romanowska, M. & Foerster, J. Sep 2010 In : Journal of Investigative Dermatology. 130, S2, p. S84-S84 1 p.500 [Oral 041]

    Research output: Contribution to journalBook/Film/Article review

  94. ARNT controls the expression of epidermal differentiation genes through EGER- and HDAC-dependent pathways

    Robertson, D., Weir, L., Leigh, I. & Panteleyev, A. Sep 2010 In : Journal of Investigative Dermatology. 130, p. S84-S84 1 p.

    Research output: Contribution to journalBook/Film/Article review

  95. EgIn3 as a key element of differential regulation of HIF1 activity by acute and chronic hypoxia in epidermal keratinocytes

    Weir, L., Robertson, D., Leigh, I. & Panteleyev, A. Sep 2010 In : Journal of Investigative Dermatology. 130, p. S1-S1 1 p.

    Research output: Contribution to journalBook/Film/Article review

  96. Filaggrin loss-of-function mutations are associated with early onset eczema, eczema severity, and transepidermal water loss at three months of age

    Flohr, C., England, K., Radulovic, S., McLean, W. H. I., Campbell, L. E., Barker, J., Perkin, M. & Lack, G. Sep 2010 In : Journal of Investigative Dermatology. 130, p. S70-S70 1 p.420 [Oral 022]

    Research output: Contribution to journalBook/Film/Article review

  97. Identification and characterisation of DSPla, a novel isoform of human desmoplakin

    Cabral, R. M., Wan, H., Cole, C. L., Abrams, D. J., Kelsell, D. P. & South, A. P. Sep 2010 In : Journal of Investigative Dermatology. 130, p. S16-S16 1 p.096

    Research output: Contribution to journalBook/Film/Article review

  98. Little Effect on p63 but Significant Effect on miR-21 and miR-125b by NB-UVB Phototherapy on Psoriatic Lesions

    Gu, X., Nylander, E., Coates, P. & Nylander, K. Sep 2010 In : Journal of Investigative Dermatology. 130, S2, p. S49-S49 1 p.

    Research output: Contribution to journalMeeting abstract

  99. Novel and recurrent filaggrin gene mutations in Taiwanese ichthyosis vulgaris families

    Hsu, C-K., Akiyama, M., Miyamura, Y., McLean, W. H. I., Lee, J. Y-Y. & Shimizu, H. Sep 2010 In : Journal of Investigative Dermatology. 130, p. S78-S78 1 p.467

    Research output: Contribution to journalBook/Film/Article review

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