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Journal of Investigative Dermatology

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  1. What lies beneath?: Scanning probe tomography may have the answer

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

    Research output: Contribution to journal › Comment/debate

  2. 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. Sep-2012 In : Journal of Investigative Dermatology. 132, p. S96-S96, 1 p.

    Research output: Contribution to journal › Meeting abstract

  3. 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 journal › Meeting abstract

  4. 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 journal › Meeting abstract

  5. 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. A. & McLean, W. Sep-2012 In : Journal of Investigative Dermatology. 132, p. S89-S89, 1 p.

    Research output: Contribution to journal › Meeting abstract

  6. 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 journal › Meeting abstract

  7. Transcriptome analysis of atopic skin demonstrates the importance of extracellular mechanisms in the filaggrin-related barrier defect

    Brown, S., Cole, C., McLean, I., Barton, G. & Irvine, A. Sep-2012 In : Journal of Investigative Dermatology. 132, p. S94-S94, 1 p.

    Research output: Contribution to journal › Meeting abstract

  8. 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 journal › Article

  9. 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 journal › Article

  10. 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 journal › Article

  11. 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. May-2012 In : Journal of Investigative Dermatology. 132, p. S126-S126, 1 p.

    Research output: Contribution to journal › Article

  12. 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 journal › Letter

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

    Wang, N. J. , Sanborn, Z. , Arnett, K. L. , Bayston, L. J. , Liao, W. , Proby, C. M. , Leigh, I. 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. & 5 others 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 journal › Article

  14. 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 journal › Scientific review

  15. 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 journal › Article

  16. 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 journal › Article

  17. 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. 2012 In : Journal of Investigative Dermatology. 132, 6, p. 1627-1635, 9 p.

    Research output: Contribution to journal › Article

  18. 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 journal › Letter

  19. 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 journal › Article

  20. 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 journal › Article

  21. 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 journal › Book/Film/Article review

  22. 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 journal › Book/Film/Article review

  23. 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 journal › Book/Film/Article review

  24. Five putative components of the TIP60 histone acetyltransferase complex, including C20orf20 but excluding the catalytic subunit, are necessary for cutaneous squamous cell carcinoma survival

    Watt, S., Pourreyron, C., Leigh, I. & South, A. Sep-2011 In : Journal of Investigative Dermatology. 131, p. S22-S22, 1 p.

    Research output: Contribution to journal › Book/Film/Article review

  25. 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 journal › Book/Film/Article review

  26. 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 journal › Book/Film/Article review

  27. 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 journal › Book/Film/Article review

  28. 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 journal › Book/Film/Article review

  29. 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 journal › Book/Film/Article review

  30. 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 journal › Book/Film/Article review

  31. 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 journal › Book/Film/Article review

  32. 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 journal › Book/Film/Article review

  33. 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 journal › Book/Film/Article review

  34. 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 journal › Letter

  35. 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 journal › Article

  36. 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 journal › Letter

  37. 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 journal › Article

  38. 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 journal › Article

  39. 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 journal › Article

  40. 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 journal › Letter

  41. 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 journal › Article

  42. 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 journal › Article

  43. 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 journal › Scientific review

  44. 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 journal › Comment/debate

  45. 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 journal › Book/Film/Article review

  46. 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 journal › Book/Film/Article review

  47. 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 journal › Book/Film/Article review

  48. 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 journal › Book/Film/Article review

  49. 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 journal › Book/Film/Article review

  50. 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 journal › Book/Film/Article review

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