Publications 2013

Reisenauer AK, Wordingham SV, York J, Kokkonen EW, McLean WH, Wilson NJ, Smith FJ (2013).  Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.   Br J Dermatol. [Epub ahead of print Dec 28, 2013] (PubMed ID 24372084)

Dayal JHS, Cole CL, Pourreyron C, Watt SA, Lim YZ, Salas-Alanis JC, Murrell DF, McGrath JA, Stieger B, Jahoda C, Leigh IM, South AP (2013). Type VII collagen regulates tumour expression of organicanion transporting polypeptide OATP1B3, promotes front to rear polarity and increases structural organisation in 3D spheroid cultures of recessive dystrophic epidermolysis bullosa tumour keratinocytes. J Cell Sci Dec 19. [Epub ahead of print] (PubMed ID: 24357722)

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 [Epub ahead of print Sep 28, 2013] (PubMed ID 24084074)

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 [Epub ahead of print Aug 25, 2013] (PubMed ID: 23974871)

Fu DJ, Thomson C, Lunny DP, Dopping-Hepenstal PJ, McGrath JA, Smith FJD, McLean WHI and Pedrioli DM (2013) Keratin 9 is Required for the Structural Integrity and Terminal Differentiation of Palmoplantar Epidermis. J Invest Dermatol. [Epub ahead of print Aug 20, 2013] (PubMed ID: 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 [Epub ahead of print Aug 8, 2013] (PubMed ID: 23927070)

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 [Epub ahead of print Jul 25, 2013] (PubMed ID: 23886662)

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 [Epub ahead of print Jul 2, 2013] (PubMed ID: 23830519)

Conneely MJ and Campbell PA (2013).  What lies beneath? Scanning probe tomography may have the answer. J Invest Dermatol.  Jun 133(6) 1458-60. (PubMed ID: 23673500)

McElroy SP, Nomura T, Torrie LS, Warbrick E, Gartner U, Wood G and McLean WHI (2013) A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol 11(6):e1001593 [Epub Jun 25, 2013]. (PubMed ID: 23824517)

Kluk MJ, Ashworth T, Wang H, Knoechel B, Mason EF, Morgan EA, Dorfman D, Pinkus G, Weigert O, hornick JL, Chirieac LR, Hirsch M, Oh DJ, South AP, Leigh IM, Pourreyron C, Cassidy AJ, Deangelo DJ, Weinstock DM, Krop IE, Dillon D, brock JE, Lazar AJ, Peto M, Cho RJ, Stoeck A, Haines BB, Sathayanrayanan S, Rodig S, Aster JC (2013). Gauging Notch 1 activation in cancer using immunohistochemistry PLOS One Jun 18;8(6):e67306. (PubMed ID: 23825651)

Pohler E, Zamiri M, Harkins CP, Salas-Alanis JC, Perkins W, Smith FJD, McLean WHI and Brown SJ (2013) Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling. J Invest Dermatol Dec;133(12):2805-8 [Epub ahead of print Jun 6, 2013] (PubMed ID: 23743648)

Sandilands A, Smith FJD, Lunny DP, Campbell LE, Davidson KM, Maccallum SF, Corden LD, Christie L, Fleming S, Lane EB and McLean WHI (2013) Generation and characterisation of keratin 7 (k7) knockout mice. PLoS One. 2013 8(5):e64404 [Epub May 31, 2013] (PubMed ID: 23741325)

Ellinghaus D, Baurecht H, Esparza-Gordillo J, Rodríguez E, Matanovic A, Marenholz I, Hübner 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 LC, Stuart P, Elder JT, Sun L, Zuo X, Yang S, Zhang X, Hoffmann P, Nöthen MM, Fölster-Holst R, Winkelmann J, Illig T, Boehm BO, Duerr RH, Büning C, Brand S, Glas J, McAleer MA, Fahy CM, Kabesch M, Brown S, McLean WHI, Irvine AD, Schreiber S, Lee YA, Franke A and Weidinger S (2013) High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nature Genetics Jul;45(7):808-12 [Epub ahead of print Jun 2, 2013] (PubMed ID: 23727859)

Asai Y, Greenwood C, Hull PR, Alizadehfar R, Ben-Shoshan M, Brown SJ, Campbell L, Michel DL, Bussières J, Rousseau F, Fujiwara TM, Morgan K, Irvine AD, McLean WHI 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. Jul;132(1):239-42 [Epub ahead of print May 16, 2013] (PubMed ID: 23684069)

Matin RN, Chikh A, Chong SL, Mesher D, Graf M, Sanza' P, Senatore V, Scatolini M, Moretti F, Leigh IM, Proby CM, Costanzo A, Chiorino G, Cerio R, Harwood CA, Bergamaschi D (2013). p63 is an alternative p53 repressor in melanoma that confers chemoresistance and a poor prognosis. J. Exp. Med. 210(3) 581-603 [Epub Feb 18, 2013] (PubMed ID:23420876)

Lo Nigro C, 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 GJ, Proby C, Crook T (2013) Methylated tissue factor pathway inhibitor 2 (TFPI2) DNA in serum is a biomarker of metastatic melanoma. J Invest Dermatol. 133(5) 1278-85 [Epub Feb 14, 2013] (PubMed ID: 23407390)

Wilson NJ, Hansen CD, Azkur D, Kocabas CN, Metin A, Coskun Z, Schwartz ME, Hull PR, McLean WHI, Smith FJD (2013) Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy-Expanding the differential diagnosis for pachyonychia congenita. J Dermatol Sci Apr;70(1):58-60 [Epub ahead of print Jan 11, 2013] (PubMed ID: 23374899)

McLean WHI and Irvine AD (2013) Old King Coal – molecular mechanisms underlying an ancient treatment for atopic eczema.  J Clin Invest Feb 1;123(2):551-3 [Epub ahead of print Jan 25, 2013] (PubMed ID: 23348733)

Margolis DJ, Apter AJ, Mitra N, Gupta J, Hoffstad O, Papadopoulos M, Rebbeck TR, MacCallum S, Campbell LE, Sandilands A, McLean WHI (2013) Reliability and validity of genotyping filaggrin null mutations.  J Dermatol Sci Apr;70(1):67-8 [Epub ahead of print Dec 7, 2012] (PubMed ID: 23274172)

McLean WHI and Irvine AD (2013) Heritable filaggrin disorders: the paradigm of atopic dermatitis. J Invest Dermatol Nov 15;132(E1):E20-1 [Epub ahead of print Nov 15, 2012] (PubMed ID: 23154627)

Allen EHA, Atkinson SD, Liao H, Moore JE, Leslie Pedrioli DM, Smith FJD, McLean WHI and Moore CBT (2013) Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy.  Invest Ophthalmol Vis Sci 54:494-502[Epub ahead of print Dec 11, 2012] (PubMed ID: 23233254)

Harwood CA, Mesher D, McGregor JM, Mitchell L, Leedham-Green M, Raftery M, Cerio R, Leigh IM, Sasieni P, Proby CM (2013) A surveillance model for skin cancer in organ transplant recipients: a 22-year prospective study in an ethnically diverse population (2013) Am J Transplant. 13(1) 119-29 [Epub Oct 16, 2012] (PubMed ID: 23072567)