Publications 2011

Hickerson RP, Leachman SA, Pho LN, Gonzalez-Gonzalez E, Smith FJD, McLean WHI, Contag CH, Leake D, Milstone LM, Kaspar RL. (2011) Development of Quantitative Molecular Clinical End Points for siRNA Clinical Trials. J Invest Dermatol 31:1029-1036. [Epub ahead of print 30th Dec 2010] (PubMed ID: 21191405)

Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean WHI, Wen Y, Bagatell R, Griffin TA, Shwayder TA, Plon SE, Wang LL. (2011) Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet 155:337-342. [Epub ahead of print 22nd Dec 2010]. (PubMed ID: 21271650)

McLean WHI(2011) The allergy gene: how a mutation in a skin protein revealed a link between eczema and asthma. F1000 Med Rep 3:2 (PubMed ID: 21399759)

Zhao Y, Gartner U, Smith FJD, McLean WHI. (2011) Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita. J Invest Dermatol 131:1045-1052. [Epub ahead of print 10th Mar] (PubMed ID: 2139004)

Brown SJ,Asai Y, Cordell HJ, Campbell LE, Zhao Y, Liao H, Northstone K, Henderson J, Alizadehfar R, Ben-Shoshan M, Morgan K, Roberts G, Masthoff LJ, Pasmans SG, van den Akker PC, Wijmenga C, Hourihane JO, Palmer CN, Lack G, Clarke A, Hull PR, Irvine AD, McLean WHI. (2011) Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy. J Allergy Clin Immunol 127:661-667. (PubMed ID: 21377035)

Chen H, Common JE, Haines RL, Balakrishnan A, Brown SJ, Goh CS, Cordell HJ, Sandilands A, Campbell LE, Kroboth K, Irvine AD, Goh DL, Tang MB, Van Bever HP, Giam YC, McLean WHI and Lane EB. (2011) Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations.  Br J Dermatol 165:106-114 [Epub ahead of print 24th Mar 2011] (PubMed ID: 21428977)

McLean WHI, Hansen CD, Eliason MJ, Smith FJD (2011) The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol 131:1015-1017. [Epub ahead of print 24th Mar 2011]. (PubMed ID: 21430705)

Margolis DJ, Papadopoulos M, Apter AJ, McLean WHI, Mitra N, Rebbeck TR. (2011) Obtaining DNA in the Mail from a National Sample of Children with a Chronic Non-Fatal Illness. J Invest Dermatol 131:1765-1767 [Epub ahead of print 21st Apr 2011] (PubMed ID: 21509047)

Gruber R, Elias PM, Crumrine D, Lin TK, Brandner JM, Hachem JP, Presland RB, Fleckman P, Janecke AR, Sandilands A, McLean WHI, Fritsch PO, Mildner M, Tschachler E, Schmuth M. Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. (2011) Am J Pathol 178:2252-2263. (PubMed ID: 21514438)

Pho LN, Smith FJD, Konecki D, Bale S, McLean WHI, Cohen B, Eliason MJ, Leachman SA. (2011) Paternal Germ Cell Mosaicism in Autosomal Dominant Pachyonychia Congenita. Arch Dermatol 147:1077-1080 [Epub ahead of print 16th May 2011] (PubMed ID: 21576551)

Winge MC, Bilcha KD, Liedén A, Shibeshi D, Sandilands A, Wahlgren CF, McLean WHI, Nordenskjöld M, Bradley M. (2011) Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian atopic-dermatitis patients.  Br J Dermatol 165:1074-1080 [Epub ahead of print 21st Jun 2011] (PubMed ID: 21692775)

Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJD, Moore CBT, McLean WHI. (2011) Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex. J Invest Dermatol 131:2079-2086 [Epub ahead of print 30th Jun 2011] (PubMed ID: 21716320)

Harris K, Hull PR, Hansen CD, Smith FJD, McLean WHI, Arbiser JL and Leachman SA (2011) Transgradiens pachyonychia congenita (PC): case series of a non-classical PC presentation. Br J Dermatol 166:124-128 [Epub ahead of print 25th Jul 2011] (PubMed ID: 21790523)

Cai SC, Chen H, Koh WP, Common JE, van Bever HP, McLean WHI, Lane EB, Giam YC, Tang MB (2011) Filaggrin Mutations are Associated with Recurrent Skin Infection in Singaporean Chinese Patients with Atopic Dermatitis. Br J Dermatol 166:200-203 [Epub ahead of print 21st Jul 2011] (PubMed ID: 21790526)

McLean WHIand Moore CBT (2011) Keratin disorders: from gene to therapy. Hum Mol Genet 20:R189-197 [Epub ahead of print 10th Sep 2011] (PubMed ID: 21890491)

Ramesh R, Chen H, Kukula A, Wakeling EL, Rustin MH, McLean WHI (2011) Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations. J Dermatol Sci 64:159-162 [Epub ahead of print 27th Aug 2011] (PubMed ID: 21945601)

Irvine AD, McLean WHI, Leung DY (2011) Filaggrin mutations associated with skin and allergic diseases. N Engl J Med. 365:1315-1327. (PubMed ID: 21991953)

van der Velden JJ, Jonkman MF, McLean WHI, Hamm H, Steijlen PM, van Steensel MAM, van Geel M (2011) A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. J Dermatol Sci 65:74-76 [Epub ahead of print 13th Oct 2011] (PubMed ID: 22036214)

Brown SJ, Kroboth K, Sandilands A, Campbell LE, Pohler E, Kezic S, Cordell HJ, McLean WHI and Irvine AD (2012) Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect. J Invest Dermatol 132:98-104 [Epub ahead of print 10th Nov 2011] (PubMed ID: 22071473)

Liao H, Irvine AD, MacEwen CJ, Weed KH, Porter L, Corden LD, Gibson AB, Moore JE, Smith FJD, McLean WHI* and Moore CBT (2011) Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PLoS ONE 6:e28582 [Epub ahead of print 12th Dec 2011] doi:10.1371/journal.pone.0028582

Smith FJD and McLean WHI (2011).  Chapter 19, Genodermatoses: Inherited Diseases of the Skin.  In: Murphy MJ, Molecular Diagnostics in Dermatology and Dermatopathology, Humana Press, Springer, New York, pp.379-410.