Publications 2014

Hegde V, Hickerson RP, Nainamalai S, Campbell PA, Smith FJD, McLean WHI, Leslie Pedrioli DM (2014) In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation. J Controlled Release. Dec;126:355-362 (PubMed ID: 25449884)

Vahlquist A, Virtanen M, Hellström-Pigg M, Dragomir A, Ryberg K, Wilson NJ, Ostman-Smith I, Lu L, McGrath JA, Smith FJ (2014) A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations.  Clin Exp Dermatol. Jan;39(1):30-4 (PubMed ID: 24341478)

Thawer-Esmail F, Jakasa I, Todd G, Wen Y, Brown SJ, Kroboth K, Campbell LE, O'Regan GM, McLean WH, Irvine AD, Kezic S, Sandilands A (2014).  South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin. J Allergy Clin Immunol. Jan;133(1):280-282.e2 (PubMed ID: 24369804)

Bolling MC, Jongbloed JD, Boven LG, Diercks GF, Smith FJD, McLean WHI and Jonkman MF (2014) Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients.  J Invest Dermatol Jan;134(1):273-6 [Epub ahead of print Jun 17, 2013] (PubMed ID: 23774525)

Courtney DG, Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson F, Yam GH, Allen EH, McLean WH, Moore TC (2014) Development of allele specific gene silencing siRNAs for TGFB1 Arg124Cys in Lattice Corneal Dystrophy Type I.  Invest Ophthalmol Vis Sci. [Epub ahead of print Jan 14, 2014] (PubMed ID 24425855)

Kono M, Nomura T, Ohguchi Y, Mizuno O, Suzuki S, Tsujiuchi H, Hamajima N, McLean WH, Shimizu H, Akiyama M (2014) Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations. Allergy [Epub ahead of print Jan 28, 2014] (PubMed ID 24425855)

Flohr C, Perkin M, Logan K, Marrs T, Radulovic S, Campbell LE, Maccallum SF, McLean WHI and Lack G (2014) Atopic Dermatitis and Disease Severity are the Main Risk Factors for Food Sensitization in Exclusively Breastfed Infants. J Invest Dermatol Feb;134(2):345-50 [Epub ahead of print Jul 18, 2013] (PubMed ID: 23867897)

Nomura T, Yoneta A, Pohler E, Suzuki S, Osawa R, Mizuno O, Ohguchi Y, Nomura Y, Yamashita T, McLean WH, Shimizu H (2014) Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate. Acta Derm Venereol. Feb 27. doi: 10.2340/00015555-1832. [Epub ahead of print] (PubMed ID: 24573067)

Visser MJ, Verberk MM, Campbell LE, McLean WHI, Calkoen F, Bakker JG, van Dijk FJ, Bos JD, Kezic S (2014) Filaggrin loss-of-function mutations and atopic dermatitis as risk factors for hand eczema in apprentice nurses: part II of a prospective cohort study.  Contact Dermatitis. Mar;70(3):139-50. [Epub ahead of print Sep 19, 2013] (PubMed ID: 24102300)

Pohler E, Huber M, Boonen SE, Zamiri M, Gregersen PA, Sommerlund M, Ramsing M, Hohl D, McLean WH, D Smith FJ. (2014) New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. Br J Dermatol. Mar 3. doi: 10.1111/bjd.12927. [Epub ahead of print] (PubMed ID: 24588319)

van Steensel MA, Coulombe PA, Kaspar RL, Milstone LM, McLean IW, Roop DR, Smith FJ, Sprecher E, Schwartz ME (2014) Report of the 10th annual international pachyonychia congenita consortium meeting. J Invest Dermatol. Mar;134(3):588-91. (PubMed ID: 24518109)

Campbell P, Morton P, Takeichi T, Salam A, Roberts N, Proudfoot LE, Mellerio JE, Aminu K, Wellington C, Patil SN, Akiyama M, Liu L, McMillan JR, Aristodemou S, Ishida-Yamamoto A, Abdul-Wahab A, Petrof G, Fong K, Harnchoowong S, Stone K, Harper JI, McLean WH, Simpson MA, Parsons M, McGrath JA (2014) Epithelial Inflammation Resulting from an Inherited Loss-of-Function Mutation in EGFR. J Invest Dermatol. Apr 1. doi: 10.1038/jid.2014.164. [Epub ahead of print] (PubMed ID: 24691054)

Mizuno O, Nomura T, Ohguchi Y, Suzuki S, Nomura Y, Hamade Y, Hoshina D, Sandilands A, Akiyama M, McLean WH, Abe R, Shimizu H. (2014) Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis.  J Eur Acad Dermatol Venereol. Mar 14. doi: 10.1111/jdv.12441. [Epub ahead of print] (PubMed ID: 24629053).

Schurch NJ, Cole C, Sherstnev A, Song J, Duc C, Storey KG, McLean WH, Brown SJ, Simpson GG, Barton GJ (2014) Improved Annotation of 3' Untranslated Regions and Complex Loci by Combination of Strand-Specific Direct RNA Sequencing, RNA-Seq and ESTs.  PLoS1 Apr 10;9(4):e94270. (PubMed ID: 24722185).

Wilson NJ, O'Toole E, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ (2014) The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. Mar 10. doi: 10.1111/bjd.12958. [Epub ahead of print] (PubMed ID: 24611874).

Lamb RC, Lang J, Terron-Kwiatowski A, Baty D, McLean WH, Zamiri M (2014) Avascular necrosis of the hip and diffuse idiopathic skeletal hyperostosis during long-term isotretinoin treatment of epidermolytic ichthyosis due to novel deletion mutation in keratin 10. Br J Dermatol. Apr 10. doi: 10.1111/bjd.13049. [Epub ahead of print] (PubMed ID: 24720725).

Courtney DG, Atkinson SD, Allen EH, Moore JE, Walsh CP, Leslie Pedrioli DM, Macewen CJ, Pellegrini G, Maurizi E, Serafini C, Fantacci M, Liao H, Irvine AD, McLean WH, Moore TC (2014).  siRNA Silencing of the Mutant Keratin 12 Allele in Corneal Limbal Epithelial Cells Grown from Patients with Meesmann's Epithelial Corneal Dystrophy. Invest Ophthalmol Vis Sci May 6. doi: 10.1167/iovs.13-12957. [Epub ahead of print] (PubMed ID: 24801514).

Cole C, Kroboth K, Schurch NJ, Sandilands A, Sherstnev A, O'Regan GM, Watson RM, Irwin McLean WH, Barton GJ, Irvine AD, Brown SJ (2014) Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis. J Allergy Clin Immunol. 2014 May 28. pii: S0091-6749(14)00596-X. doi: 10.1016/j.jaci.2014.04.021. [Epub ahead of print] (PubMed ID: 24880632).

Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WH, Simpson MA, McGrath JA (2014). Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. Br J Dermatol.  Jun 19. doi: 10.1111/bjd.13190. [Epub ahead of print] (PubMed ID: 24947307).

Goh BH, Khoo BC, Mclean WH, Campbell PA (2014). Jitter reduction using native fiducials in rotating mirror ultra-fast microphotography. Opt Express.  Jun 30;22(13):16282-8 (PubMed ID: 24977879).

Ohguchi Y, Nomura T, Suzuki S, Mizuno O, Nomura Y, Nemoto-Hasebe I, Okamoto H, Sandilands A, Akiyama M, Mclean WH, Shimizu H (2014) A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. Eur J Dermatol. Aug 13 (Pubmed ID: 25115336).

Petrof G, Nanda A, Howden J, Takeichi T, McMillan JR, Aristodemou S, Ozoemena L, Liu L, South AP, Pourreyron C, Dafou D, Proudfoot LE, Al-Ajmi H, Akiyama M, McLean WH, Simpson MA, Parsons M, McGrath JA (2014) Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome. Am J Hum Genet. Aug 20. pii: S0002-9297(14)00345-0 doi: 10.1016/j.ajhg.2014.08.001. [Epub ahead of print] (PubMed ID: 25152456).

Brough HA, Simpson A, Makinson K, Hankinson J, Brown S, Douiri A, Belgrave DC, Penagos M, Stephens AC, McLean WH, Turcanu V, Nicolaou N, Custovic A, Lack G (2014) Peanut allergy: Effect of environmental peanut exposure in children with filaggrin loss-of-function mutations. J Allergy Clin Immunol. Oct;134(4):867-875 (PubMed ID: 25282568)

Simpson EL, Chalmers JR, Hanifin JM, Thomas KS, Cork MJ, McLean WH, Brown SJ, Chen Z, Chen Y, Williams HC (2014) Emollient enhancement of the skin barrier from birth offers effective atopic dermatitis prevention. J Allergy Clin Immunol. Oct;134(4):818-23 (PubMed ID: 25282563)