University of Dundee

Molecular Medicine 2013

Allen, E. H., Atkinson, S. D., Liao, H., Moore, J. E., Leslie Pedrioli, D. M., Smith, F. J., McLean, W. H. and Moore, C. B. (2013) Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. Invest Ophthalmol Vis Sci. 54, 494-502
doi. 10.1167/iovs.12-10528
Pubmed. 23233254

An, S. Q., Febrer, M., McCarthy, Y., Tang, D. J., Clissold, L., Kaithakottil, G., Swarbreck, D., Tang, J. L., Rogers, J., Dow, J. M. and Ryan, R. P. (2013) High-resolution transcriptional analysis of the regulatory influence of cell-to-cell signalling reveals novel genes that contribute to Xanthomonas phytopathogenesis. Mol Microbiol. 88, 1058-1069
doi. 10.1111/mmi.12229
Pubmed. 23617851

Asai, Y., Greenwood, C., Hull, P. R., Alizadehfar, R., Ben-Shoshan, M., Brown, S. J., Campbell, L., Michel, D. L., Bussieres, J., Rousseau, F., Fujiwara, T. M., Morgan, K., Irvine, A. D., McLean, W. H. and Clarke, A. (2013) Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status. J Allergy Clin Immunol. 132, 239-242 e237
doi. 10.1016/j.jaci.2013.03.043
Pubmed. 23684069

Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJD, Wilson NJ, McLean WHI, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A and Kelsell DP (2013) Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma.  Am J Hum Genet Aug 8;93(2):330-5
doi: 10.1016/j.ajhg.2013.06.008
Pubmed. 23830519

Brown, S. (2013) The Pharmacogenetics of Body Odor: As Easy as ABCC? J Invest Dermatol. 133, 1709-1711
doi. 10.1038/jid.2013.14
Pubmed. 23760047

Conneely, M. J. and Campbell, P. A. (2013) What lies beneath? Scanning probe tomography may have the answer. J Invest Dermatol. 133, 1458-1460
doi. 10.1038/jid.2013.30
Pubmed. 23673500

Ellinghaus, D., Baurecht, H., Esparza-Gordillo, J., Rodriguez, E., Matanovic, A., Marenholz, I., Hubner, N., Schaarschmidt, H., Novak, N., Michel, S., Maintz, L., Werfel, T., Meyer-Hoffert, U., Hotze, M., Prokisch, H., Heim, K., Herder, C., Hirota, T., Tamari, M., Kubo, M., Takahashi, A., Nakamura, Y., Tsoi, L. C., Stuart, P., Elder, J. T., Sun, L., Zuo, X., Yang, S., Zhang, X., Hoffmann, P., Nothen, M. M., Folster-Holst, R., Winkelmann, J., Illig, T., Boehm, B. O., Duerr, R. H., Buning, C., Brand, S., Glas, J., McAleer, M. A., Fahy, C. M., Kabesch, M., Brown, S., McLean, W. H., Irvine, A. D., Schreiber, S., Lee, Y. A., Franke, A. and Weidinger, S. (2013) High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nat Genet. 45, 808-812
doi. 10.1038/ng.2642
Pubmed. 23727859

Fu, D. J., Thomson, C., Lunny, D. P., Dopping-Hepenstal, P. J., McGrath, J. A., Smith, F. J., Irwin McLean, W. H. and Pedrioli, D. M. (2013) Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis. J Invest Dermatol
doi. 10.1038/jid.2013.356
Pubmed. 23962810

Higgins E, Capra M, Schwartz ME, Smith FJD, McLean WHI and Irvine AD (2013) Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing's sarcoma. Br J Dermatol Dec;169(6):1357-60
doi: 10.1111/bjd.12574.
Pubmed ID. 23927070

Khoury, M. P., Marcel, V., Fernandes, K., Diot, A., Lane, D. P. and Bourdon, J. C. (2013) Detecting and quantifying p53 isoforms at mRNA level in cell lines and tissues. Methods Mol Biol. 962, 1-14
doi. 10.1007/978-1-62703-236-0_1
Pubmed. 23150433

Lek, H. S., Morrison, V. L., Conneely, M., Campbell, P. A., McGloin, D., Kliche, S., Watts, C., Prescott, A. and Fagerholm, S. C. (2013) The spontaneously adhesive leukocyte function-associated antigen-1 (LFA-1) integrin in effector T cells mediates rapid actin- and calmodulin-dependent adhesion strengthening to ligand under shear flow. J Biol Chem. 288, 14698-14708
doi. 10.1074/jbc.M112.430918
Pubmed. 23585567

Marcel, V., Khoury, M. P., Fernandes, K., Diot, A., Lane, D. P. and Bourdon, J. C. (2013) Detecting p53 isoforms at protein level. Methods Mol Biol. 962, 15-29
doi. 10.1007/978-1-62703-236-0_2
Pubmed. 23150434

Margolis, D. J., Apter, A. J., Mitra, N., Gupta, J., Hoffstad, O., Papadopoulos, M., Rebbeck, T. R., MacCallum, S., Campbell, L. E., Sandilands, A. and McLean, W. H. (2013) Reliability and validity of genotyping filaggrin null mutations. J Dermatol Sci. 70, 67-68
doi. 10.1016/j.jdermsci.2012.11.594
Pubmed. 23274172

McElroy, S. P., Nomura, T., Torrie, L. S., Warbrick, E., Gartner, U., Wood, G. and McLean, W. H. (2013) A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays. PLoS Biol. 11, e1001593
doi. 10.1371/journal.pbio.1001593
Pubmed. 23824517

McLean WHI and Irvine AD (2013) Heritable filaggrin disorders: the paradigm of atopic dermatitis. J Invest Dermatol Nov 15;132(E1):E20-1
doi: 10.1038/skinbio.2012.6.
Pubmed. 23154627

McLean, W. H. and Irvine, A. D. (2013) Old King coal - molecular mechanisms underlying an ancient treatment for atopic eczema. J Clin Invest. 123, 551-553
doi. 10.1172/JCI67438
Pubmed. 23348733

Pohler, E., Zamiri, M., Harkins, C. P., Salas-Alanis, J. C., Perkins, W., Smith, F. J., Irwin McLean, W. H. and Brown, S. J. (2013) Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling. J Invest Dermatol
doi. 10.1038/jid.2013.243
Pubmed. 23743648

Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CS, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E (2013) Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nature Genetics Oct;45(10):1244-8
doi: 10.1038/ng.2739
Pubmed. 23974871

Sandilands, A., Smith, F. J., Lunny, D. P., Campbell, L. E., Davidson, K. M., Maccallum, S. F., Corden, L. D., Christie, L., Fleming, S., Lane, E. B. and McLean, W. H. (2013) Generation and characterisation of keratin 7 (k7) knockout mice. PLoS One. 8, e64404
doi. 10.1371/journal.pone.0064404
Pubmed. 23741325

Saunders SP, Goh CS, Brown SJ, Palmer CN, Porter RM, Cole C, Campbell LE, Gierlinski M, Barton GJ, Schneider G, Balmain A, Prescott AR, Weidinger S, Baurecht H, Kabesch M, Gieger C, Lee YA, Tavendale R, Mukhopadhyay S, Turner SW, Madhok VB, Sullivan FM, Relton C, Burn J, Meggitt S, Smith CH, Allen MA, Barker JN, Reynolds NJ, Cordell HJ, Irvine AD, McLean WHI, Sandilands A, Fallon PG (2013) Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects.  J Allergy Clin Immunol. Nov;132(5):1121-9
doi: 10.1016/j.jaci.2013.08.046
Pubmed ID 24084074

Schwartz, M. E., Zimmerman, G. M., Smith, F. J. D. and Sprecher, E. (2013) Pachyonychia congenita project – a partnership of patient and medical professional. J. Dermatol Nurses Association. 5, 42-47

Weidinger S, Willis-Owen SA, Kamatani Y, Baurecht H, Morar N, Liang L, Edser P, Street T, Rodriguez E, O'Regan GM, Beattie P, Fölster-Holst R, Franke A, Novak N, Fahy CM, Winge MC, Kabesch M, Illig T, Heath S, Söderhäll C, Melén E, Pershagen G, Kere J, Bradley M, Lieden A, Nordenskjold M, Harper JI, McLean WHI, Brown SJ, Cookson WO, Mark Lathrop G, Irvine AD, Moffatt MF (2013) A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. Hum Mol Genet. Dec 1;22(23):4841-56
doi: 10.1093/hmg/ddt317
Pubmed. 23886662

Wilson, N. J., Hansen, C. D., Azkur, D., Kocabas, C. N., Metin, A., Coskun, Z., Schwartz, M. E., Hull, P. R., McLean, W. H. and Smith, F. J. (2013) Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. J Dermatol Sci. 70, 58-60
doi. 10.1016/j.jdermsci.2012.12.005
Pubmed. 23374899