Dermatology and Genetic Medicine (Strategic Grant) (Joint with Kings College London)

Research output

Research output per year 2012 2013 2014 2015 2021

• 47 Article
• 14 Letter
• 1 Editorial

Research output per year

Research output per year

Search results

• 2021

  Gut microbiota development during infancy: Impact of introducing allergenic foods

  Marrs, T., Jo, J. H., Perkin, M. R., Rivett, D. W., Witney, A. A., Bruce, K. D., Logan, K., Craven, J., Radulovic, S., Versteeg, S. A., van Ree, R., McLean, W. H. I., Strachan, D. P., Lack, G., Kong, H. H. & Flohr, C., Feb 2021, In: Journal of Allergy and Clinical Immunology. 147, 2, p. 613-621.e9 18 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Gastrointestinal Microbiome 100%
  • Food 70%
  • Breast 61%
  • Escherichia 54%
  • Bacteroides 51%
  30 Citations (Scopus)

  79 Downloads (Pure)
• 2020

  Bathing frequency is associated with skin barrier dysfunction and atopic dermatitis at three months of age

  Marrs, T., Perkin, M. R., Logan, K., Craven, J., Radulovic, S., McLean, W. H. I., Versteeg, S. A., van Ree, R., Lack, G., Flohr, C. & EAT Study Team, Sept 2020, In: The Journal of Allergy and Clinical Immunology: In Practice. 8, 8, p. 2820-2822 3 p.

  Research output: Contribution to journal › Article › peer-review
  10 Citations (Scopus)

• Changes in nano-mechanical properties of human epidermal cornified cells in children with atopic dermatitis

  Haftek, M., McAleer, M. A., Jakasa, I., McLean, W. H. I., Kezic, S. & Irvine, A. D., 17 Jul 2020, In: Wellcome Open Research. 5, 19 p., 97.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Epidermal Cells 100%
  • Atopic Dermatitis 90%
  • Degradation Product 80%
  • filaggrin 77%
  • Mutation 72%
  7 Citations (Scopus)

  79 Downloads (Pure)

• Development of a Corneal Bioluminescence Mouse for Real-Time In Vivo Evaluation of Gene Therapies

  Fu, D. J., Allen, E. H. A., Hickerson, R. P., Leslie Pedrioli, D. M. & McLean, W. H. I., 29 Dec 2020, In: Translational Vision Science and Technology. 9, 13, 10 p., 44.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Gene therapy 100%
  • Keratin 97%
  • Bioluminescence 96%
  • Genetic Therapy 52%
  • Transgenes 46%
  1 Citation (Scopus)

  59 Downloads (Pure)
• 2019

  Discovery of Soft-Drug Topical Tool Modulators of Sphingosine-1-phosphate Receptor 1 (S1PR1)

  Bell, M., Foley, D., Naylor, C., Wood, G., Robinson, C., Riley, J., Epemolu, R., Ellis, L., Scullion, S., Shishikura, Y., Osuna-Cabello, M., Ferguson, L., Pinto, E., Fletcher, D., Katz, E., McLean, W., Wyatt, P., Read, K. & Woodland, C., 14 Mar 2019, In: ACS Medicinal Chemistry Letters. 10, 3, p. 341–347 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Sphingosine 1 Phosphate Receptor Modulators 100%
  • Sphingosine 1-Phosphate 90%
  • Drug Discovery 59%
  • Drug 30%
  • ponesimod 28%
  3 Citations (Scopus)

  222 Downloads (Pure)

• Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma

  Smith, F. J. D., Kreuser-Genis, I. M., Jury, C. S., Wilson, N. J., Terron-Kwiatowski, A. & Zamiri, M., Jul 2019, In: Clinical and Experimental Dermatology. 44, 5, p. 528-534 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Keratoderma, Palmoplantar, Epidermolytic 100%
  • Epidermolytic Hyperkeratosis 87%
  • Keratin-1 87%
  • Palmoplantar Keratoderma 40%
  • Mutation 29%
  12 Citations (Scopus)

  108 Downloads (Pure)

• Novel mutations in desmoglein 1: Focal palmoplantar keratoderma in milder phenotypes

  Zamiri, M., Wilson, N. J., O'Toole, E. A. & Smith, F. J. D., 1 Sept 2019, In: British Journal of Dermatology. 181, 3, p. 618-620 3 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Hyperkeratosis of the palms and soles and esophageal papillomas 100%
  • Desmoglein 1 78%
  • Keratin-16 43%
  • Keratin-1 41%
  • Desmoplakins 39%
  2 Citations (Scopus)

  116 Downloads (Pure)

• Relative Abundance of Transcripts (RATs): Identifying differential isoform abundance from RNA-seq [version 1; referees: 1 approved, 2 approved with reservations]

  Froussios, K., Mourao, K., Simpson, G., Barton, G. & Schurch, N., 24 Feb 2019, In: F1000 Research. 8, p. 1-20 20 p., 213.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • RNA-Seq 100%
  • Protein Isoforms 69%
  • Datasets 30%
  • Size Effect 16%
  • Drosophila 8%
  11 Citations (Scopus)

  161 Downloads (Pure)

• Systemic and stratum corneum biomarkers of severity in infant atopic dermatitis include markers of innate and T helper cell-related immunity and angiogenesis

  McAleer, M. A., Jakasa, I., Hurault, G., Sarvari, P., McLean, W., Tanaka, R. J., Kezic, S. & Irvine, A. D., Mar 2019, In: British Journal of Dermatology. 180, 3, p. 586-596 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Atopic Dermatitis 100%
  • Helper-Inducer T-Lymphocytes 99%
  • Cornea 89%
  • Immunity 77%
  • Biomarkers 62%
  57 Citations (Scopus)

  171 Downloads (Pure)
• 2018

  Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

  Wong, X. F. C. C., Denil, S. L. I. J., Foo, J. N., Chen, H., Ling Tay, A. S., Haines, R. L., Tang, M. B. Y., McLean, W. H. I., Sandilands, A., Smith, F. J. D., Lane, E. B., Liu, J. & Common, J. E. A., Feb 2018, In: Journal of Allergy and Clinical Immunology. 141, 2, p. 814-816 3 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • filaggrin 100%
  • Atopic Dermatitis 36%
  • Genes 27%
  • Costs and Cost Analysis 21%
  • Polymerase Chain Reaction 20%
  30 Citations (Scopus)

  375 Downloads (Pure)
• 2016

  Keratin 12 missense mutation induces the unfolded protein response and apoptosis in meesmann epithelial corneal dystrophy

  Allen, E. H. A., Courtney, D. G., Atkinson, S. D., Moore, J. E., Mairs, L., Poulsen, E. T., Schiroli, D., Maurizi, E., Cole, C., Hickerson, R. P., James, J., Murgatroyd, H., Smith, F. J. D., MacEwen, C., Enghild, J. J., Nesbit, M. A., Leslie Pedrioli, D. M., McLean, W. H. I. & Moore, C. B. T., 15 Mar 2016, In: Human Molecular Genetics. 25, 6, p. 1176-1191 16 p., ddw001.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Juvenile Epithelial of Meesmann Corneal Dystrophy 100%
  • Keratin-12 90%
  • Unfolded Protein Response 61%
  • Missense Mutation 50%
  • Keratins 33%
  13 Citations (Scopus)

  169 Downloads (Pure)
• 2015

  Atopic dermatitis increases the effect of exposure to peanut antigen in dust on peanut sensitization and likely peanut allergy

  Brough, H. A., Liu, A. H., Sicherer, S., Makinson, K., Douiri, A., Brown, S. J., Stephens, A. C., McLean, W. H. I., Turcanu, V., Wood, R. A., Jones, S. M., Burks, W., Dawson, P., Stablein, D., Sampson, H. & Lack, G., Jan 2015, In: Journal of Allergy and Clinical Immunology. 135, 1, p. 164-170.e4 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Peanut Hypersensitivity 100%
  • Arachis 84%
  • Dust 70%
  • Atopic Dermatitis 68%
  • Antigens 41%
  236 Citations (Scopus)

  351 Downloads (Pure)

• Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

  Mercier, S., Küry, S., Salort-Campana, E., Magot, A., Agbim, U., Besnard, T., Bodak, N., Bou-Hanna, C., Bréhéret, F., Brunelle, P., Caillon, F., Chabrol, B., Cormier-Daire, V., David, A., Eymard, B., Faivre, L., Figarella-Branger, D., Fleurence, E., Ganapathi, M., Gherardi, R., & 34 othersGoldenberg, A., Hamel, A., Igual, J., Irvine, A. D., Israël-Biet, D., Kannengiesser, C., Laboisse, C., Le Caignec, C., Mahé, J. Y., Mallet, S., MacGowan, S., McAleer, M. A., McLean, I., Méni, C., Munnich, A., Mussini, J. M., Nagy, P. L., Odel, J., O'Regan, G. M., Péréon, Y., Perrier, J., Piard, J., Puzenat, E., Sampson, J. B., Smith, F., Soufir, N., Tanji, K., Thauvin, C., Ulane, C., Watson, R. M., Khumalo, N. P., Mayosi, B. M., Barbarot, S. & Bézieau, S., 15 Oct 2015, In: Orphanet Journal of Rare Diseases. 10, 16 p., 135.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Pulmonary Fibrosis 100%
  • Contracture 93%
  • Muscular Diseases 93%
  • Tendons 80%
  • Mutation 48%
  29 Citations (Scopus)

  183 Downloads (Pure)

• 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 journal › Letter › peer-review
  19 Citations (Scopus)

• Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis

  Riethmuller, C., McAleer, M. A., Koppes, S. A., Abdayem, R., Franz, J., Haftek, M., Campbell, L. E., MacCallum, S. F., McLean, W. H. I., Irvine, A. D. & Kezic, S., Dec 2015, In: Journal of Allergy and Clinical Immunology. 136, 6, p. 1573-1580.e2 10 p.

  Research output: Contribution to journal › Article › peer-review

  • filaggrin 100%
  • Atopic Dermatitis 72%
  • Loss of Function Mutation 26%
  • Genes 21%
  • Kaposi Varicelliform Eruption 12%
  76 Citations (Scopus)

• Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms

  Baurecht, H., Hotze, M., Brand, S., Büning, C., Cormican, P., Corvin, A., Ellinghaus, D., Ellinghaus, E., Esparza-Gordillo, J., Fölster-Holst, R., Franke, A., Gieger, C., Hubner, N., Illig, T., Irvine, A. D., Kabesch, M., Lee, Y. A. E., Lieb, W., Marenholz, I., McLean, W. H. I., & 19 othersMorris, D. W., Mrowietz, U., Nair, R., Nöthen, M. M., Novak, N., O'Regan, G. M., PAGE Consortium, Schreiber, S., Smith, C., Strauch, K., Stuart, P. E., Trembath, R., Tsoi, L. C., Weichenthal, M., Barker, J., Elder, J. T., Weidinger, S., Cordell, H. J. & Brown, S. J., 8 Jan 2015, In: American Journal of Human Genetics. 96, 1, p. 104-120 17 p.

  Research output: Contribution to journal › Article › peer-review

  • Atopic Dermatitis 100%
  • Psoriasis 94%
  • Genome 64%
  • Chromosomes 37%
  • Locus Control Region 36%
  129 Citations (Scopus)

• Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads

  Lin, Z., Zhao, J., Nitoiu, D., Scott, C. A., Plagnol, V., Smith, F. J. D., Wilson, N. J., Cole, C., Schwartz, M. E., McLean, W. H. I., Wang, H., Feng, C., Duo, L., Zhou, E. Y., Ren, Y., Dai, L., Chen, Y., Zhang, J., Xu, X., O'Toole, E. A., & 2 othersKelsell, D. P. & Yang, Y., 5 Mar 2015, In: American Journal of Human Genetics. 96, 3, p. 440-447 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Cheilitis 100%
  • calpastatin 99%
  • Keratosis 89%
  • Loss of Function Mutation 72%
  • Extremities 47%
  28 Citations (Scopus)

• 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 journal › Letter › peer-review
  3 Citations (Scopus)

• Lysyl hydroxylase 3 localizes to epidermal basement membrane and Is reduced in patients with Recessive Dystrophic Epidermolysis Bullosa

  Watt, S. A., Dayal, J. H. S., Wright, S., Riddle, M., Pourreyron, C., McMillan, J. R., Kimble, R. M., Prisco, M., Gartner, U., Warbrick, E., McLean, W. H. I., Leigh, I. M., McGrath, J. A., Salas-Alanis, J. C., Tolar, J. & South, A. P., 18 Sept 2015, In: PLoS ONE. 10, 9, 15 p., e0137639.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • 2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine 100%
  • Epidermolysis Bullosa Dystrophica 88%
  • Basement Membrane 58%
  • Collagen Type VII 57%
  • Skin 12%
  18 Citations (Scopus)

  189 Downloads (Pure)

• Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

  Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J. R., Aristodemou, S., McGrath, J. A., Smith, F. J. D., Mclean, W. H. I., Munro, C. S. & Zamiri, M., 26 Nov 2015, In: British Journal of Dermatology. 173, 5, p. 1292-1294 4 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  10 Citations (Scopus)

  169 Downloads (Pure)

• Novel CARD11 mutations in human cutaneous squamous cell carcinoma lead to aberrant NF-κB regulation

  Watt, S. A., Purdie, K. J., den Breems, N. Y., Dimon, M., Arron, S. T., McHugh, A. T., Xue, D. J., Dayal, J. H. S., Proby, C. M., Harwood, C. A., Leigh, I. M. & South, A. P., Sept 2015, In: American Journal of Pathology. 185, 9, p. 2354-2363 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Squamous Cell Carcinoma 100%
  • Caspase Activation and Recruitment Domain 76%
  • Mutation 67%
  • Skin 65%
  • Psoriasis 33%
  19 Citations (Scopus)

• Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

  McAleer, M. A., Pohler, E., Smith, F. J. D., Wilson, N. J., Cole, C., MacGowan, S., Koetsier, J. L., Godsel, L. M., Harmon, R. M., Gruber, R., Crumrine, D., Elias, P. M., McDermott, M., Butler, K., Broderick, A., Sarig, O., Sprecher, E., Green, K. J., McLean, W. H. I. & Irvine, A. D., Nov 2015, In: Journal of Allergy and Clinical Immunology. 136, 5, p. 1268-1276 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Plakins 100%
  • Desmoplakins 93%
  • Wasting Syndrome 84%
  • Dermatitis 65%
  • Metabolic Syndrome 55%
  89 Citations (Scopus)

• Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

  Takeichi, T., Liu, L., Fong, K., Ozoemena, L., McMillan, J. R., Salam, A., Campbell, P., Akiyama, M., Mellerio, J. E., McLean, W. H. I., Simpson, M. A. & McGrath, J. A., 2015, In: British Journal of Dermatology. 172, 1, p. 94-100 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Epidermolysis Bullosa 100%
  • Whole Exome Sequencing 82%
  • Mutation 38%
  • High-Throughput Nucleotide Sequencing 29%
  • DNA Sequence Analysis 23%
  59 Citations (Scopus)

  112 Downloads (Pure)
• 2014

  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 journal › Article › peer-review

  • Sensitization 100%
  • Atopic Dermatitis 98%
  • filaggrin 81%
  • Mutation 79%
  • Food 66%
  146 Citations (Scopus)

• Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to a novel deletion mutation in KRT10

  Lamb, R. C., Lang, J., Terron-Kwiatowski, A., Baty, D., McLean, W. H. I. & Zamiri, M., Oct 2014, In: British Journal of Dermatology. 171, 4, p. 913-915 3 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
  2 Citations (Scopus)

  68 Downloads (Pure)

• Emollient enhancement of the skin barrier from birth offers effective atopic dermatitis prevention

  Simpson, E. L., Chalmers, J. R., Hanifin, J. M., Thomas, K. S., Cork, M. J., McLean, W. H. I., Brown, S. J., Chen, Z., Chen, Y. & Williams, H. C., Oct 2014, In: Journal of Allergy and Clinical Immunology. 134, 4, p. 818-823 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Emollients 100%
  • Atopic Dermatitis 72%
  • Parturition 48%
  • Skin 38%
  • Dermatitis, Atopic, 6 18%
  541 Citations (Scopus)

  308 Downloads (Pure)

• 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 othersHarper, 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 journal › Article › peer-review

  • Loss of Function Mutation 100%
  • ErbB Receptors 84%
  • Mutation 74%
  • Inflammation 52%
  • Skin 24%
  56 Citations (Scopus)

• Filaggrin loss-of-function mutations and atopic dermatitis as risk factors for hand eczema in apprentice nurses: part II of a prospective cohort study

  Visser, M. J., Verberk, M. M., Campbell, L. E., McLean, W. H. I., Calkoen, F., Bakker, J. G., Van Dijk, F. J. H., Bos, J. D. & Kezic, S., Mar 2014, In: Contact Dermatitis. 70, 3, p. 139-150 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • filaggrin 100%
  • Eczema 79%
  • Loss of Function Mutation 78%
  • Atopic Dermatitis 72%
  • Hand 52%
  48 Citations (Scopus)

  94 Downloads (Pure)

• Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis

  Cole, C., Kroboth, K., Schurch, N. J., Sandilands, A., Sherstnev, A., O'Regan, G. M., Watson, R. M., McLean, W. H. I., Barton, G. J., Irvine, A. D. & Brown, S. J., Jul 2014, In: Journal of Allergy and Clinical Immunology. 134, 1, p. 82-91 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • filaggrin 100%
  • Atopic Dermatitis 72%
  • Pediatrics 44%
  • Skin 38%
  • Extracellular Space 22%
  100 Citations (Scopus)

  211 Downloads (Pure)

• Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease

  Reisenauer, A. K., Wordingham, S. V., York, J., Kokkonen, E. W. J., McLean, W. H. I., Wilson, N. J. & Smith, F. J. D., Jun 2014, In: British Journal of Dermatology. 170, 6, p. 1362-1365 4 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Keratin-5 100%
  • Frameshift Mutation 84%
  • Haploinsufficiency 29%
  • Nonsense Codon 26%
  • Dowling-Degos Disease 21%
  8 Citations (Scopus)

  181 Downloads (Pure)

• In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation

  Hegde, V., Hickerson, R. P., Nainamalai, S., Campbell, P. A., Smith, F. J. D., McLean, W. H. I. & Leslie Pedrioli, D. M., 28 Dec 2014, In: Journal of Controlled Release. 196, p. 355-362 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Small Interfering RNA 100%
  • Silencing RNA 93%
  • Gene Silencing 76%
  • Skin 39%
  • Workflow 26%
  37 Citations (Scopus)

  182 Downloads (Pure)

• Jitter reduction using native fiducials in rotating mirror ultra-fast microphotography

  Goh, B. H. T., Khoo, B. C., McLean, W. H. I. & Campbell, P. A., 30 Jun 2014, In: Optics Express. 22, 13, p. 16282-16288 7 p.

  Research output: Contribution to journal › Article › peer-review

  • rotating mirrors 100%
  • files 74%
  • Industry 62%
  • Software 51%
  • Technology 44%
  4 Citations (Scopus)

• Mutations in GRHL2 result in an autosomal-recessive ectodermal dysplasia syndrome

  Petrof, G., Nanda, A., Howden, J., Takeichi, T., McMillan, J. R., Aristodemou, S., Ozoemena, L., Liu, L., South, A. P., Pourreyron, C., Dafou, D., Proudfoot, L. E., Al-Ajmi, H., Akiyama, M., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A., 4 Sept 2014, In: American Journal of Human Genetics. 95, 3, p. 308-314 7 p.

  Research output: Contribution to journal › Article › peer-review

  File

  • Zlotogora-Ogur syndrome 100%
  • Deafness 38%
  • Nails 35%
  • Mutation 29%
  • Exons 29%
  42 Citations (Scopus)

  182 Downloads (Pure)

• New and recurrent AAGAB mutations in punctate palmoplantar keratoderma

  Pohler, E., Huber, M., Boonen, S. E., Zamiri, M., Gregersen, P. A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W. H. I. & Smith, F. J., 18 Aug 2014, In: British Journal of Dermatology. 171, 2, p. 433-436 4 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Palmoplantar Keratoderma 100%
  • Keratosis palmoplantaris papulosa 70%
  • Genetic Databases 42%
  • Mutation 36%
  • Genes 26%
  9 Citations (Scopus)

  255 Downloads (Pure)

• Norspermidine is not a self-produced trigger for biofilm disassembly

  Hobley, L., Kim, S. H., Maezato, Y., Wyllie, S., Fairlamb, A. H., Stanley-Wall, N. R. & Michael, A. J., 13 Feb 2014, In: Cell. 156, 4, p. 844-854 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • norspermidine 100%
  • Biofilm Formation 63%
  • Biofilms 49%
  • Exopolysaccharide 34%
  • Polyamine 27%
  51 Citations (Scopus)

  154 Downloads (Pure)

• 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 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Vemurafenib 100%
  • Mutation 69%
  • Carcinogenesis 62%
  • Epithelial Cells 58%
  • Skin 44%
  250 Citations (Scopus)

• Peanut allergy: effect of environmental peanut exposure in children with filaggrin loss-of-function mutations

  Brough, H. A., Simpson, A., Makinson, K., Hankinson, J., Brown, S., Douiri, A., Belgrave, D. C. M., Penagos, M., Stephens, A. C., McLean, W. H. I., Turcanu, V., Nicolaou, N., Custovic, A. & Lack, G., Oct 2014, In: Journal of Allergy and Clinical Immunology. 134, 4, p. 867-875.e1 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Peanut Hypersensitivity 100%
  • filaggrin 93%
  • Arachis 84%
  • Loss of Function Mutation 73%
  • Environmental Exposure 70%
  221 Citations (Scopus)

  166 Downloads (Pure)

• 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 journal › Letter › peer-review
  32 Citations (Scopus)

• Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate

  Nomura, T., Yoneta, A., Pohler, E., Suzuki, S., Osawa, R., Mizuno, O., Ohguchi, Y., Nomura, Y., Yamashita, T., McLean, W. H. I. & Shimizu, H., 2014, In: Acta Dermato-Venereologica. 95, 1, p. 110-111 2 p.

  Research output: Contribution to journal › Article › peer-review

  • Keratosis palmoplantaris papulosa 100%
  • Etretinate 68%
  • Loss of Function Mutation 52%
  • Mutation 25%
  • Palmoplantar Keratoderma 23%
  14 Citations (Scopus)

• Report of the 10th annual international pachyonychia congenita consortium meeting

  van Steensel, 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 journal › Article › peer-review
  6 Citations (Scopus)

• South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin

  Thawer-Esmail, F., Jakasa, I., Todd, G., Wen, Y., Brown, S. J., Kroboth, K., Campbell, L. E., O'Regan, G. M., McLean, W. H. I., Irvine, A. D., Kezic, S. & Sandilands, A., Jan 2014, In: Journal of Allergy and Clinical Immunology. 133, 1, p. 280-282.e1-e2 5 p.

  Research output: Contribution to journal › Letter › peer-review
  58 Citations (Scopus)

• The molecular genetic analysis of the expanding pachyonychia congenita case collection

  Wilson, N. J., O'Toole, E., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H. I., Sprecher, E. & Smith, F. J. D., Aug 2014, In: British Journal of Dermatology. 171, 2, p. 343-355 13 p., 12958.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  File

  • Pachyonychia Congenita 100%
  • Keratins 49%
  • Molecular Biology 46%
  • Mutation 32%
  • Follicular Cyst 15%
  47 Citations (Scopus)

  215 Downloads (Pure)

• Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes

  Dayal, J. H. S., Cole, C. L., Pourreyron, C., Watt, S. A., Lim, Y. Z., Salas-Alanis, J. C., Murrell, D. F., McGrath, J. A., Stieger, B., Jahoda, C., Leigh, I. M. & South, A. P., 15 Feb 2014, In: Journal of Cell Science. 127, 4, p. 740-751 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Collagen Type VII 100%
  • Epidermolysis Bullosa Dystrophica 96%
  • Keratinocytes 62%
  • Skin 35%
  • Squamous Cell Carcinoma 32%
  18 Citations (Scopus)
• 2013

  A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis

  Weidinger, S., Willis-Owen, S. A. G., Kamatani, Y., Baurecht, H., Morar, N., Liang, L., Edser, P., Street, T., Rodriguez, E., O'Regan, G. M., Beattie, P., Fölster-Holst, R., Franke, A., Novak, N., Fahy, C. M., Winge, M. C. G., Kabesch, M., Illig, T., Heath, S., Söderhäll, C., & 13 othersMelén, E., Pershagen, G., Kere, J., Bradley, M., Lieden, A., Nordenskjold, M., Harper, J. I., McLean, W. H. I., Brown, S. J., Cookson, W. O. C., Lathrop, G. M., Irvine, A. D. & Moffatt, M. F., Dec 2013, In: Human Molecular Genetics. 22, 23, p. 4841-4856 16 p.

  Research output: Contribution to journal › Article › peer-review

  • Atopic Dermatitis 100%
  • Genome-Wide Association Study 99%
  • Psoriasis 94%
  • Asthma 74%
  • Dermatitis, Atopic, 3 23%
  154 Citations (Scopus)

• A Lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays

  McElroy, S. P., Nomura, T., Torrie, L. S., Warbrick, E., Gartner, U., Wood, G. & McLean, W. H. I., 2013, In: PLoS Biology. 11, 6, e1001593.

  Research output: Contribution to journal › Article › peer-review

  • ataluren 100%
  • nonsense mutation 76%
  • Nonsense Codon 62%
  • stop codon 59%
  • Mutation 45%
  102 Citations (Scopus)

• Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy

  Allen, E. H. A., Atkinson, S. D., Liao, H., Moore, J. E., Pedrioli, D. M. L., Smith, F. J. D., McLean, W. H. I. & Moore, C. B. T., 2013, In: Investigative Ophthalmology & Visual Science. 54, 1, p. 494-502 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Juvenile Epithelial of Meesmann Corneal Dystrophy 100%
  • Keratin-12 90%
  • RNA Interference 47%
  • Small Interfering RNA 41%
  • Alleles 36%
  28 Citations (Scopus)

• Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

  Samuelov, L., Sarig, O., Harmon, R. M., Rapaport, D., Ishida-Yamamoto, A., Isakov, O., Koetsier, J. L., Gat, A., Goldberg, I., Bergman, R., Spiegel, R., Eytan, O., Geller, S., Peleg, S., Shomron, N., Goh, C. S. M., Wilson, N. J., Smith, F. J. D., Pohler, E., Simpson, M. A., & 6 othersMcLean, W. H. I., Irvine, A. D., Horowitz, M., McGrath, J. A., Green, K. J. & Sprecher, E., 2013, In: Nature Genetics.

  Research output: Contribution to journal › Letter › peer-review

  • Desmoglein 1 100%
  • Dermatitis 70%
  • Hypersensitivity 52%
  • Wasting Syndrome 30%
  • Desmosomes 27%
  238 Citations (Scopus)

• Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status

  Asai, Y., Greenwood, C., Hull, P. R., Alizadehfar, R., Ben-Shoshan, M., Brown, S. J., Campbell, L., Michel, D. L., Bussières, J., Rousseau, F., Fujiwara, T. M., Morgan, K., Irvine, A. D., McLean, W. H. I. & Clarke, A., Jul 2013, In: Journal of Allergy and Clinical Immunology. 132, 1, p. 239-242.e7 4 p.

  Research output: Contribution to journal › Letter › peer-review
  48 Citations (Scopus)

• Generation and characterisation of keratin 7 (K7) knockout mice

  Sandilands, A., Smith, F. J. D., Lunny, D. P., Campbell, L. E., Davidson, K. M., MacCallum, S. F., Corden, L. D., Christie, L., Fleming, S., Lane, E. B. & McLean, W. H. I., 31 May 2013, In: PLoS ONE. 8, 5, 11 p., e64404.

  Research output: Contribution to journal › Article › peer-review

  • Keratin-7 100%
  • Knockout Mice 65%
  • K-18 conjugate 58%
  • Type II Keratin 20%
  • Urinary Bladder 19%
  27 Citations (Scopus)

• 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 journal › Letter › peer-review
  15 Citations (Scopus)