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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

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