Publications 2012

Brown SJ, McLean WHI (2012) One Remarkable Molecule: Filaggrin. J Invest Dermatol 132:751-762 [Epub ahead of print 8th Dec 2011] (PubMed ID: 22158554)

Uitto J, Christiano AM, McLean WHI and McGrath JA (2011) Novel Molecular Therapies for Heritable Skin Disorders. J Invest Dermatol 132:820-828 [Epub ahead of print 8th Dec 2011] (PubMed ID: 22158553)

Kezic S, O'Regan GM, Lutter R, Jakasa I, Koster ES, Saunders S, Caspers P, Kemperman PM, Puppels GJ, Sandilands A, Chen H, Campbell LE, Kroboth K, Watson R, Fallon PG, McLean WHI and Irvine AD (2012) Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of filaggrin deficiency. J Allergy Clin Immunol 129:1031-1039 [Epub ahead of print 7th Feb 2012] (PubMed ID: 22322004)

Sandilands A, Brown SJ, Goh CS, Pohler E, Wilson NJ, Campbell LE, Miyamoto K, Kubo A, Irvine AD, Thawer-Esmail F, Munro CS, McLean WHI, Kudoh J and Amagai M and Matsui T (2012) Mutations in the SASPase Gene (ASPRV1) are not associated with atopic eczema or clinically dry skin. J Invest Dermatol 132:1507-1510 [Epub ahead of print 9th Feb 2012] (PubMed ID: 22318384)

Wilson NJ, Pérez ML, Vahlquist A, Schwartz ME, Hansen CD, McLean WHI and Smith FJD (2012) Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita. J Invest Dermatol 132:1921-1924 [Epub ahead of print 16th Feb 2012] (PubMed ID: 22336949)

Leslie Pedrioli DM,  Fu DJ, Gonzalez-Gonzalez E, Contag CH, Kaspar RL, Smith FJD and McLean WHI (2012) Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder. J Invest Dermatol 132:1627-1635 [Epub ahead of print 8th Mar 2012] (PubMed ID: 22402445)

Margolis DJ, Apter AJ, Gupta J, Hoffstad O, Papadopoulos M, Campbell LE, Sandilands A, McLean WHI, Rebbeck TR, Mitra N (2012) The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort. J Allergy Clin Immunol 130:912-917 [Epub ahead of print 27th Aug 2012] (PubMed ID: 22951058)

Visser MJ, Landeck L, Campbell LE, McLean WHI, Weidinger S, Calkoen F, John SM and Kezic S (2012) Impact of Loss-of-function Mutations in the Filaggrin Gene and Atopic Dermatitis on the Development of Occupational Irritant Contact Dermatitis.  Br J Dermatol [Epub ahead of print 5th Oct] (PubMedID: 23039796)

Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJD, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WHI (2012) Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nature Genetics doi: 10.1038/ng.2444. [Epub ahead of print 14th Oct 2012] (PubMed ID: 23064416)

Tsoi LC, Spain SL, Knight J, Ellinghaus E, Stuart PE, Capon F, Ding J, Li Y, Tejasvi T, Gudjonsson JE, Kang HM, Allen MH, McManus R, Novelli G, Samuelsson L, Schalkwijk J, Ståhle M, Burden AD, Smith CH, Cork MJ, Estivill X, Bowcock AM, Krueger GG, Weger W, Worthington J, Tazi-Ahnini R, Nestle FO, Hayday A, Hoffmann P, Winkelmann J, Wijmenga C, Langford C, Edkins S, Andrews R, Blackburn H, Strange A, Band G, Pearson RD, Vukcevic D, Spencer CC, Deloukas P, Mrowietz U, Schreiber S, Weidinger S, Koks S, Kingo K, Esko T, Metspalu A, Lim HW, Voorhees JJ, Weichenthal M, Wichmann HE, Chandran V, Rosen CF, Rahman P, Gladman DD, Griffiths CE, Reis A, Kere J; Collaborative Association Study of Psoriasis (CASP), Duffin KC, Helms C, Goldgar D, Li Y, Paschall J, Malloy MJ, Pullinger CR, Kane JP, Gardner J, Perlmutter A, Miner A, Feng BJ, Hiremagalore R, Ike RW, Christophers E, Henseler T, Ruether A, Schrodi SJ, Prahalad S, Guthery SL, Fischer J, Liao W, Kwok P, Menter A, Lathrop GM, Wise C, Begovich AB; Genetic Analysis of Psoriasis Consortium, Onoufriadis A, Weale ME, Hofer A, Salmhofer W, Wolf P, Kainu K, Saarialho-Kere U, Suomela S, Badorf P, Hüffmeier U, Kurrat W, Küster W, Lascorz J, Mössner R, Schürmeier-Horst F, Ständer M, Traupe H, Bergboer JG, Heijer MD, van de Kerkhof PC, Zeeuwen PL, Barnes L, Campbell LE, Cusack C, Coleman C, Conroy J, Ennis S, Fitzgerald O, Gallagher P, Irvine AD, Kirby B, Markham T, McLean WHI, McPartlin J, Rogers SF, Ryan AW, Zawirska A, Giardina E, Lepre T, Perricone C, Martín-Ezquerra G, Pujol RM, Riveira-Munoz E, Inerot A, Naluai AT, Mallbris L, Wolk K, Leman J, Barton A, Warren RB, Young HS, Ricano-Ponce I, Trynka G; Psoriasis Association Genetics Extension, Pellett FJ, Henschel A, Aurand M, Bebo B, Gieger C, Illig T, Moebus S, Jöckel KH, Erbel R; Wellcome Trust Case Control Consortium 2, Donnelly P, Peltonen L, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Craddock N, Duncanson A, Jankowski J, Markus HS, Mathew CG, McCarthy MI, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Samani N, Viswanathan AC, Wood NW, Bellenguez C, Freeman C, Hellenthal G, Giannoulatou E, Pirinen M, Su Z, Hunt SE, Gwilliam R, Bumpstead SJ, Dronov S, Gillman M, Gray E, Hammond N, Jayakumar A, McCann OT, Liddle J, Perez ML, Potter SC, Ravindrarajah R, Ricketts M, Waller M, Weston P, Widaa S, Whittaker P, Nair RP, Franke A, Barker JN, Abecasis GR, Elder JT and Trembath RC (2012) Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.  Nature Genetics doi: 10.1038/ng.2467. [Epub ahead of print Nov 11th 2012] (PubMed ID: 23143594)

McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WHI, Martinez AE, Mellerio JE and Parsons M (2012) Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am J Hum Genet [Epub ahead of print Nov 20, 2012] (PubMed ID: 23176819)