Thomas Jefferson University

William Mclean

TitleVolunteer Faculty
InstitutionThomas Jefferson University
DepartmentFaculty Records and Publicatio - Thomas Jefferson University
Address833 Chestnut Street
Philadelphia PA 19023
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. McAleer MA, Jakasa I, Stefanovic N, McLean WHI, Kezic S, Irvine AD. Topical corticosteroids normalize both skin and systemic inflammatory markers in infant atopic dermatitis. Br J Dermatol. 2021 07; 185(1):153-163. PMID: 33269467.
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    2. Jabbar-Lopez ZK, Craven J, Logan K, Greenblatt D, Marrs T, Radulovic S, McLean WHI, Lack G, Strachan DP, Perkin MR, Peacock JL, Flohr C. Longitudinal analysis of the effect of water hardness on atopic eczema: evidence for gene-environment interaction. Br J Dermatol. 2020 08; 183(2):285-293. PMID: 31599965.
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    3. Elhaji Y, Sasseville D, Pratt M, Asai Y, Matheson K, McLean WHI, Hull PR. Filaggrin gene loss-of-function mutations constitute a factor in patients with multiple contact allergies. Contact Dermatitis. 2019 Jun; 80(6):354-358. PMID: 30868611.
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    4. Hulshof L, Hack DP, Hasnoe QCJ, Dontje B, Jakasa I, Riethm?ller C, McLean WHI, van Aalderen WMC, Van't Land B, Kezic S, Sprikkelman AB, Middelkamp-Hup MA. A minimally invasive tool to study immune response and skin barrier in children with atopic dermatitis. Br J Dermatol. 2019 03; 180(3):621-630. PMID: 29989151.
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    5. McAleer MA, Jakasa I, Hurault G, Sarvari P, McLean WHI, Tanaka RJ, Kezic S, Irvine AD. Systemic and stratum corneum biomarkers of severity in infant atopic dermatitis include markers of innate and T helper cell-related immunity and angiogenesis. Br J Dermatol. 2019 03; 180(3):586-596. PMID: 30132823.
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    6. McAleer MA, Jakasa I, Raj N, O'Donnell CPF, Lane ME, Rawlings AV, Voegeli R, McLean WHI, Kezic S, Irvine AD. Early-life regional and temporal variation in filaggrin-derived natural moisturizing factor, filaggrin-processing enzyme activity, corneocyte phenotypes and plasmin activity: implications for atopic dermatitis. Br J Dermatol. 2018 08; 179(2):431-441. PMID: 29691836.
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    7. Pigors M, Common JEA, Wong XFCC, Malik S, Scott CA, Tabarra N, Liany H, Liu J, Limviphuvadh V, Maurer-Stroh S, Tang MBY, Lench N, Margolis DJ, van Heel DA, Mein CA, Novak N, Baurecht H, Weidinger S, McLean WHI, Irvine AD, O'Toole EA, Simpson MA, Kelsell DP. Exome Sequencing and Rare Variant Analysis Reveals?Multiple Filaggrin Mutations in Bangladeshi?Families with Atopic Eczema and?Additional Risk Genes. J Invest Dermatol. 2018 12; 138(12):2674-2677. PMID: 29857066.
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    8. Kono M, Akiyama M, Inoue Y, Nomura T, Hata A, Okamoto Y, Takeichi T, Muro Y, McLean WHI, Shimizu H, Sugiura K, Suzuki Y, Shimojo N. Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children. Br J Dermatol. 2018 07; 179(1):190-191. PMID: 29369340.
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    9. Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A. Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies. Hum Mol Genet. 2018 04 01; 27(7):1228-1240. PMID: 29373757.
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    10. Ohguchi Y, Nomura T, Suzuki S, Takeda M, Miyauchi T, Mizuno O, Shinkuma S, Fujita Y, Nemoto O, Ono K, McLean WHI, Shimizu H. Gentamicin-Induced Readthrough and Nonsense-Mediated mRNA Decay of SERPINB7 Nonsense Mutant Transcripts. J Invest Dermatol. 2018 04; 138(4):836-843. PMID: 29106929.
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    11. Wong XFCC, Denil SLIJ, Foo JN, Chen H, Tay ASL, Haines RL, Tang MBY, McLean WHI, Sandilands A, Smith FJD, Lane EB, Liu J, Common JEA. Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants. J Allergy Clin Immunol. 2018 02; 141(2):814-816. PMID: 29056476.
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    12. Smith FJD, McLean WHI. Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism. J Dermatol. 2017 12; 44(12):e312. PMID: 28815691.
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    13. Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fern?ndez-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA. Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a?Spectrum of Keratinization Disorders Associated with Thrombocytopenia. J Invest Dermatol. 2017 11; 137(11):2344-2353. PMID: 28774589.
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    14. de Haseth SB, Bakker E, Vermeer MH, El Idrissi H, Bosse T, Smit VTHBM, Terron-Kwiatkowski A, McLean WHI, Peters AAW, Hes FJ. A novel keratin 13 variant in a four-generation family with white sponge nevus. Clin Case Rep. 2017 09; 5(9):1503-1509. PMID: 28878914.
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    15. Fleury OM, McAleer MA, Feuillie C, Formosa-Dague C, Sansevere E, Bennett DE, Towell AM, McLean WHI, Kezic S, Robinson DA, Fallon PG, Foster TJ, Dufr?ne YF, Irvine AD, Geoghegan JA. Clumping Factor B Promotes Adherence of Staphylococcus aureus to Corneocytes in Atopic Dermatitis. Infect Immun. 2017 06; 85(6). PMID: 28373353.
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    16. Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA. Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. Am J Hum Genet. 2017 Feb 02; 100(2):364-370. PMID: 28157540.
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    17. Bochner R, Samuelov L, Sarig O, Li Q, Adase CA, Isakov O, Malchin N, Vodo D, Shayevitch R, Peled A, Yu BD, Fainberg G, Warshauer E, Adir N, Erez N, Gat A, Gottlieb Y, Rogers T, Pavlovsky M, Goldberg I, Shomron N, Sandilands A, Campbell LE, MacCallum S, McLean WHI, Ast G, Gallo RL, Uitto J, Sprecher E. Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis. J Invest Dermatol. 2017 02; 137(2):385-393. PMID: 27769845.
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    18. McLean WH. Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond. Br J Dermatol. 2016 Oct; 175 Suppl 2:4-7. PMID: 27667308.
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    19. Wilson NJ, Cole C, Kroboth K, Hunter WN, Mann JA, McLean WH, Kernland Lang K, Beltraminelli H, Sabroe RA, Tiffin N, Sobey GJ, Borradori L, Simpson E, Smith FJ. Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. Br J Dermatol. 2017 Jan; 176(1):270-274. PMID: 27479915.
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    20. Kennedy EA, Connolly J, Hourihane JO, Fallon PG, McLean WHI, Murray D, Jo JH, Segre JA, Kong HH, Irvine AD. Skin microbiome before development of atopic dermatitis: Early colonization with commensal staphylococci at 2?months is associated with a lower risk of atopic dermatitis at 1?year. J Allergy Clin Immunol. 2017 01; 139(1):166-172. PMID: 27609659.
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    21. Sekiya A, Kono M, Tsujiuchi H, Kobayashi T, Nomura T, Kitakawa M, Suzuki N, Yamanaka K, Sueki H, McLean WH, Shimizu H, Akiyama M. Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis. J Eur Acad Dermatol Venereol. 2017 Jan; 31(1):158-162. PMID: 27519469.
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    22. Perkin MR, Craven J, Logan K, Strachan D, Marrs T, Radulovic S, Campbell LE, MacCallum SF, McLean WH, Lack G, Flohr C. Association between domestic water hardness, chlorine, and atopic dermatitis risk in early life: A?population-based cross-sectional study. J Allergy Clin Immunol. 2016 08; 138(2):509-16. PMID: 27241890.
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    23. Kelleher MM, Dunn-Galvin A, Gray C, Murray DM, Kiely M, Kenny L, McLean WHI, Irvine AD, Hourihane JO. Skin barrier impairment at birth predicts food allergy at 2 years of age. J Allergy Clin Immunol. 2016 Apr; 137(4):1111-1116.e8. PMID: 26924469.
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    24. Leitch CS, Natafji E, Yu C, Abdul-Ghaffar S, Madarasingha N, Venables ZC, Chu R, Fitch PM, Muinonen-Martin AJ, Campbell LE, McLean WH, Schwarze J, Howie SE, Weller RB. Filaggrin-null mutations are associated with increased maturation markers on Langerhans cells. J Allergy Clin Immunol. 2016 08; 138(2):482-490.e7. PMID: 26934939.
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    25. Strid J, McLean WHI, Irvine AD. Too Much, Too Little or Just Enough: A Goldilocks Effect for IL-13 and Skin Barrier Regulation? J Invest Dermatol. 2016 Mar; 136(3):561-564. PMID: 26902126.
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    26. Allen EH, Courtney DG, Atkinson SD, Moore JE, Mairs L, Poulsen ET, Schiroli D, Maurizi E, Cole C, Hickerson RP, James J, Murgatroyd H, Smith FJ, MacEwen C, Enghild JJ, Nesbit MA, Leslie Pedrioli DM, McLean WH, Moore CB. Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy. Hum Mol Genet. 2016 Mar 15; 25(6):1176-91. PMID: 26758872.
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    27. Watt SA, Dayal JH, Wright S, Riddle M, Pourreyron C, McMillan JR, Kimble RM, Prisco M, Gartner U, Warbrick E, McLean WH, Leigh IM, McGrath JA, Salas-Alanis JC, Tolar J, South AP. Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa. PLoS One. 2015; 10(9):e0137639. PMID: 26380979.
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    28. Pohler E, Cunningham F, Sandilands A, Cole C, Digby S, McMillan JR, Aristodemou S, McGrath JA, Smith FJ, McLean WH, Munro CS, Zamiri M. Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis. Br J Dermatol. 2015 Nov; 173(5):1291-4. PMID: 25965869.
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    29. Schmitt J, Schwarz K, Baurecht H, Hotze M, F?lster-Holst R, Rodr?guez E, Lee YAE, Franke A, Degenhardt F, Lieb W, Gieger C, Kabesch M, N?then MM, Irvine AD, McLean WHI, Deckert S, Stephan V, Schwarz P, Aringer M, Novak N, Weidinger S. Atopic dermatitis is associated with an increased risk for rheumatoid arthritis and inflammatory bowel disease, and a decreased risk for type 1 diabetes. J Allergy Clin Immunol. 2016 Jan; 137(1):130-136. PMID: 26253344.
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    30. McAleer MA, Pohler E, Smith FJ, Wilson NJ, Cole C, MacGowan S, Koetsier JL, Godsel LM, Harmon RM, Gruber R, Crumrine D, Elias PM, McDermott M, Butler K, Broderick A, Sarig O, Sprecher E, Green KJ, McLean WH, Irvine AD. Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin. J Allergy Clin Immunol. 2015 Nov; 136(5):1268-76. PMID: 26073755.
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    31. Riethmuller C, McAleer MA, Koppes SA, Abdayem R, Franz J, Haftek M, Campbell LE, MacCallum SF, McLean WHI, Irvine AD, Kezic S. Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis. J Allergy Clin Immunol. 2015 Dec; 136(6):1573-1580.e2. PMID: 26071937.
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    32. van der Velden JJ, van Geel M, Nellen RG, Jonkman MF, McGrath JA, Nanda A, Sprecher E, van Steensel MA, McLean WH, Cassidy AJ. Novel TGM5 mutations in acral peeling skin syndrome. Exp Dermatol. 2015 Apr; 24(4):285-9. PMID: 25644735.
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    33. Lin Z, Zhao J, Nitoiu D, Scott CA, Plagnol V, Smith FJ, Wilson NJ, Cole C, Schwartz ME, McLean WH, Wang H, Feng C, Duo L, Zhou EY, Ren Y, Dai L, Chen Y, Zhang J, Xu X, O'Toole EA, Kelsell DP, Yang Y. Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. Am J Hum Genet. 2015 Mar 05; 96(3):440-7. PMID: 25683118.
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    34. Kelleher M, Dunn-Galvin A, Hourihane JO, Murray D, Campbell LE, McLean WHI, Irvine AD. Skin barrier dysfunction measured by transepidermal water loss at 2 days and 2 months predates and predicts atopic dermatitis at 1 year. J Allergy Clin Immunol. 2015 Apr; 135(4):930-935.e1. PMID: 25618747.
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    35. Baurecht H, Hotze M, Brand S, B?ning C, Cormican P, Corvin A, Ellinghaus D, Ellinghaus E, Esparza-Gordillo J, F?lster-Holst R, Franke A, Gieger C, Hubner N, Illig T, Irvine AD, Kabesch M, Lee YA, Lieb W, Marenholz I, McLean WH, Morris DW, Mrowietz U, Nair R, N?then MM, Novak N, O'Regan GM, Schreiber S, Smith C, Strauch K, Stuart PE, Trembath R, Tsoi LC, Weichenthal M, Barker J, Elder JT, Weidinger S, Cordell HJ, Brown SJ. Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. Am J Hum Genet. 2015 Jan 08; 96(1):104-20. PMID: 25574825.
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    36. Abbas M, Schwartz ME, Smith FJ, McLean WH, Hull PR. PCQoL: A Quality of Life Assessment Measure for Pachyonychia Congenita. J Cutan Med Surg. 2015 Jan-Feb; 19(1):57-65. PMID: 25775665.
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    37. Nomura T, Yoneta A, Pohler E, Suzuki S, Osawa R, Mizuno O, Ohguchi Y, Nomura Y, Yamashita T, McLean WH, Shimizu H. Punctate palmoplantar keratoderma type 1: a novel AAGAB mutation and efficacy of etretinate. Acta Derm Venereol. 2015 Jan; 95(1):110-1. PMID: 24573067.
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    38. Takeichi T, Liu L, Fong K, Ozoemena L, McMillan JR, Salam A, Campbell P, Akiyama M, Mellerio JE, McLean WH, Simpson MA, McGrath JA. Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory. Br J Dermatol. 2015 Jan; 172(1):94-100. PMID: 24947307.
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    39. Hegde V, Hickerson RP, Nainamalai S, Campbell PA, Smith FJ, McLean WH, Pedrioli DM. In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation. J Control Release. 2014 Dec 28; 196:355-62. PMID: 25449884.
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    40. 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. Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Am J Hum Genet. 2014 Sep 04; 95(3):308-14. PMID: 25152456.
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    41. Pohler E, Huber M, Boonen SE, Zamiri M, Gregersen PA, Sommerlund M, Ramsing M, Hohl D, McLean WH, Smith FJ. New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. Br J Dermatol. 2014 Aug; 171(2):433-6. PMID: 24588319.
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    42. Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug; 171(2):343-55. PMID: 24611874.
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    43. Lamb RC, Lang J, Terron-Kwiatowski A, Baty D, McLean WH, Zamiri M. 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. Br J Dermatol. 2014 Oct; 171(4):913-5. PMID: 24720725.
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    44. Ohguchi Y, Nomura T, Suzuki S, Mizuno O, Nomura Y, Nemoto-Hasebe I, Okamoto H, Sandilands A, Akiyama M, Mclean WH, Shimizu H. A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. Eur J Dermatol. 2014 Jul-Aug; 24(4):491-3. PMID: 25115336.
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    45. Reisenauer AK, Wordingham SV, York J, Kokkonen EW, Mclean WH, Wilson NJ, Smith FJ. Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease. Br J Dermatol. 2014 Jun; 170(6):1362-5. PMID: 24372084.
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    46. Cole C, Kroboth K, Schurch NJ, Sandilands A, Sherstnev A, O'Regan GM, Watson RM, McLean WH, Barton GJ, Irvine AD, Brown SJ. Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis. J Allergy Clin Immunol. 2014 Jul; 134(1):82-91. PMID: 24880632.
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    47. Courtney DG, Atkinson SD, Allen EH, Moore JE, Walsh CP, Pedrioli DM, MacEwen CJ, Pellegrini G, Maurizi E, Serafini C, Fantacci M, Liao H, Irvine AD, McLean WH, Moore CB. 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. 2014 May 06; 55(5):3352-60. PMID: 24801514.
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    48. Mizuno O, Nomura T, Ohguchi Y, Suzuki S, Nomura Y, Hamade Y, Hoshina D, Sandilands A, Akiyama M, McLean WH, Abe R, Shimizu H. Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis. J Eur Acad Dermatol Venereol. 2015 Apr; 29(4):805-8. PMID: 24629053.
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    49. Courtney DG, Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson FD, Yam GH, Macewen CJ, Allen EH, McLean WH, Moore CB. Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I. Invest Ophthalmol Vis Sci. 2014 Feb 18; 55(2):977-85. PMID: 24425855.
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    50. Kono M, Nomura T, Ohguchi Y, Mizuno O, Suzuki S, Tsujiuchi H, Hamajima N, McLean WH, Shimizu H, Akiyama M. Comprehensive screening for a complete set of Japanese-population-specific filaggrin gene mutations. Allergy. 2014 Apr; 69(4):537-40. PMID: 24467288.
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    51. 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. 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. 2014 Jan; 133(1):280-2.e1-2. PMID: 24369804.
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    52. Higgins E, Capra M, Schwartz ME, Smith FJ, McLean WH, Irvine AD. Resolution of the plantar hyperkeratosis of pachyonychia congenita during chemotherapy for Ewing sarcoma. Br J Dermatol. 2013 Dec; 169(6):1357-60. PMID: 23927070.
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    53. 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 WH, Sandilands A, Fallon PG. Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects. J Allergy Clin Immunol. 2013 Nov; 132(5):1121-9. PMID: 24084074.
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    54. 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 CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting. Nat Genet. 2013 Oct; 45(10):1244-1248. PMID: 23974871.
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    55. Weidinger S, Willis-Owen SA, Kamatani Y, Baurecht H, Morar N, Liang L, Edser P, Street T, Rodriguez E, O'Regan GM, Beattie P, F?lster-Holst R, Franke A, Novak N, Fahy CM, Winge MC, Kabesch M, Illig T, Heath S, S?derh?ll C, Mel?n E, Pershagen G, Kere J, Bradley M, Lieden A, Nordenskjold M, Harper JI, McLean WH, Brown SJ, Cookson WO, Lathrop GM, Irvine AD, Moffatt MF. A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. Hum Mol Genet. 2013 Dec 01; 22(23):4841-56. PMID: 23886662.
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    56. Flohr C, Perkin M, Logan K, Marrs T, Radulovic S, Campbell LE, MacCallum SF, McLean WHI, Lack G. Atopic dermatitis and disease severity are the main risk factors for food sensitization in exclusively breastfed infants. J Invest Dermatol. 2014 Feb; 134(2):345-350. PMID: 23867897.
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    57. Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundstr?m A, Kelsell DP. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet. 2013 Aug 08; 93(2):330-5. PMID: 23830519.
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    58. McElroy SP, Nomura T, Torrie LS, Warbrick E, Gartner U, Wood G, McLean WH. A lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assays. PLoS Biol. 2013; 11(6):e1001593. PMID: 23824517.
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    59. Ellinghaus D, Baurecht H, Esparza-Gordillo J, Rodr?guez E, Matanovic A, Marenholz I, H?bner 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, N?then MM, F?lster-Holst R, Winkelmann J, Illig T, Boehm BO, Duerr RH, B?ning C, Brand S, Glas J, McAleer MA, Fahy CM, Kabesch M, Brown S, McLean WH, Irvine AD, Schreiber S, Lee YA, Franke A, Weidinger S. High-density genotyping study identifies four new susceptibility loci for atopic dermatitis. Nat Genet. 2013 Jul; 45(7):808-12. PMID: 23727859.
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    60. Sandilands A, Smith FJ, Lunny DP, Campbell LE, Davidson KM, MacCallum SF, Corden LD, Christie L, Fleming S, Lane EB, McLean WH. Generation and characterisation of keratin 7 (K7) knockout mice. PLoS One. 2013; 8(5):e64404. PMID: 23741325.
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    61. Asai Y, Greenwood C, Hull PR, Alizadehfar R, Ben-Shoshan M, Brown SJ, Campbell L, Michel DL, Bussi?res J, Rousseau F, Fujiwara TM, Morgan K, Irvine AD, McLean WH, Clarke A. Filaggrin gene mutation associations with peanut allergy persist despite variations in peanut allergy diagnostic criteria or asthma status. J Allergy Clin Immunol. 2013 Jul; 132(1):239-42. PMID: 23684069.
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    62. Visser MJ, Landeck L, Campbell LE, McLean WHI, Weidinger S, Calkoen F, John SM, Kezic S. Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis. Br J Dermatol. 2013 Feb; 168(2):326-332. PMID: 23039796.
      Citations:    
    63. McLean WH, Irvine AD. Old King coal - molecular mechanisms underlying an ancient treatment for atopic eczema. J Clin Invest. 2013 Feb; 123(2):551-3. PMID: 23348733.
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    64. Allen EHA, Atkinson SD, Liao H, Moore JE, Pedrioli DML, Smith FJD, McLean WHI, Moore CBT. Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. Invest Ophthalmol Vis Sci. 2013 Jan 17; 54(1):494-502. PMID: 23233254.
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    65. Wilson NJ, Hansen CD, Azkur D, Kocabas CN, Metin A, Coskun Z, Schwartz ME, Hull PR, McLean WH, Smith FJ. Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. J Dermatol Sci. 2013 Apr; 70(1):58-60. PMID: 23374899.
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    66. McGrath JA, Stone KL, Begum R, Simpson MA, Dopping-Hepenstal PJ, Liu L, McMillan JR, South AP, Pourreyron C, McLean WH, Martinez AE, Mellerio JE, Parsons M. Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am J Hum Genet. 2012 Dec 07; 91(6):1115-21. PMID: 23176819.
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    67. McLean WH, Irvine AD. Heritable filaggrin disorders: the paradigm of atopic dermatitis. J Invest Dermatol. 2012 Nov 15; 132(E1):E20-1. PMID: 23154627.
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    68. Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, 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 WH. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet. 2012 Nov; 44(11):1272-6. PMID: 23064416.
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    69. Margolis DJ, Apter AJ, Gupta J, Hoffstad O, Papadopoulos M, Campbell LE, Sandilands A, McLean WH, Rebbeck TR, Mitra N. The persistence of atopic dermatitis and filaggrin (FLG) mutations in a US longitudinal cohort. J Allergy Clin Immunol. 2012 Oct; 130(4):912-7. PMID: 22951058.
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    70. Leslie Pedrioli DM, Fu DJ, Gonzalez-Gonzalez E, Contag CH, Kaspar RL, Smith FJ, McLean WH. Generic and personalized RNAi-based therapeutics for a dominant-negative epidermal fragility disorder. J Invest Dermatol. 2012 Jun; 132(6):1627-35. PMID: 22402445.
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    71. Wilson NJ, P?rez ML, Vahlquist A, Schwartz ME, Hansen CD, McLean WH, Smith FJ. Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita. J Invest Dermatol. 2012 Jul; 132(7):1921-4. PMID: 22336949.
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    72. Sandilands A, Brown SJ, Goh CS, Pohler E, Wilson NJ, Campbell LE, Miyamoto K, Kubo A, Irvine AD, Thawer-Esmail F, Munro CS, McLean WH, Kudoh J, Amagai M, Matsui T. Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin. J Invest Dermatol. 2012 May; 132(5):1507-10. PMID: 22318384.
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    73. 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 WH, Irvine AD. 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. 2012 Apr; 129(4):1031-9.e1. PMID: 22322004.
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    74. Harris K, Hull PR, Hansen CD, Smith FJ, McLean WH, Arbiser JL, Leachman SA. Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation. Br J Dermatol. 2012 Jan; 166(1):124-8. PMID: 21790523.
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    75. Liao H, Irvine AD, Macewen CJ, Weed KH, Porter L, Corden LD, Gibson AB, Moore JE, Smith FJ, McLean WH, Moore CB. Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy. PLoS One. 2011; 6(12):e28582. PMID: 22174841.
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    76. Uitto J, Christiano AM, McLean WH, McGrath JA. Novel molecular therapies for heritable skin disorders. J Invest Dermatol. 2012 Mar; 132(3 Pt 2):820-8. PMID: 22158553.
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    77. Brown SJ, McLean WH. One remarkable molecule: filaggrin. J Invest Dermatol. 2012 Mar; 132(3 Pt 2):751-62. PMID: 22158554.
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    78. Cai SC, Chen H, Koh WP, Common JE, van Bever HP, McLean WH, Lane EB, Giam YC, Tang MB. Filaggrin mutations are associated with recurrent skin infection in Singaporean Chinese patients with atopic dermatitis. Br J Dermatol. 2012 Jan; 166(1):200-3. PMID: 21790526.
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    79. Brown SJ, Kroboth K, Sandilands A, Campbell LE, Pohler E, Kezic S, Cordell HJ, McLean WH, Irvine AD. Intragenic copy number variation within filaggrin contributes to the risk of atopic dermatitis with a dose-dependent effect. J Invest Dermatol. 2012 Jan; 132(1):98-104. PMID: 22071473.
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    80. Winge MC, Bilcha KD, Lied?n A, Shibeshi D, Sandilands A, Wahlgren CF, McLean WH, Nordenskj?ld M, Bradley M. Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis. Br J Dermatol. 2011 Nov; 165(5):1074-80. PMID: 21692775.
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    81. van der Velden JJ, Jonkman MF, McLean WH, Hamm H, Steijlen PM, van Steensel MA, van Geel M. A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. J Dermatol Sci. 2012 Jan; 65(1):74-6. PMID: 22036214.
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    82. Irvine AD, McLean WH, Leung DY. Filaggrin mutations associated with skin and allergic diseases. N Engl J Med. 2011 Oct 06; 365(14):1315-27. PMID: 21991953.
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    83. McLean WH, Moore CB. Keratin disorders: from gene to therapy. Hum Mol Genet. 2011 Oct 15; 20(R2):R189-97. PMID: 21890491.
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    84. Ramesh R, Chen H, Kukula A, Wakeling EL, Rustin MH, McLean WH. Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations. J Dermatol Sci. 2011 Dec; 64(3):159-62. PMID: 21945601.
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    85. 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 WH, Lane EB. Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations. Br J Dermatol. 2011 Jul; 165(1):106-14. PMID: 21428977.
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    86. Atkinson SD, McGilligan VE, Liao H, Szeverenyi I, Smith FJ, Moore CB, McLean WH. Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. J Invest Dermatol. 2011 Oct; 131(10):2079-86. PMID: 21716320.
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    87. Pho LN, Smith FJ, Konecki D, Bale S, McLean WH, Cohen B, Eliason MJ, Leachman SA. Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita. Arch Dermatol. 2011 Sep; 147(9):1077-80. PMID: 21576551.
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    88. Gruber R, Elias PM, Crumrine D, Lin TK, Brandner JM, Hachem JP, Presland RB, Fleckman P, Janecke AR, Sandilands A, McLean WH, Fritsch PO, Mildner M, Tschachler E, Schmuth M. Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol. 2011 May; 178(5):2252-63. PMID: 21514438.
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    89. Kaspar RL, Leachman SA, McLean WH, Schwartz ME. Toward a treatment for pachyonychia congenita: report on the 7th Annual International Pachyonychia Congenita Consortium meeting. J Invest Dermatol. 2011 May; 131(5):1011-4. PMID: 21494242.
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    90. Margolis DJ, Papadopoulos M, Apter AJ, McLean WH, Mitra N, Rebbeck TR. Obtaining DNA in the mail from a national sample of children with a chronic non-fatal illness. J Invest Dermatol. 2011 Aug; 131(8):1765-7. PMID: 21509047.
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    91. McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol. 2011 May; 131(5):1015-7. PMID: 21430705.
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    92. Zhao Y, Gartner U, Smith FJ, McLean WH. Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita. J Invest Dermatol. 2011 May; 131(5):1045-52. PMID: 21390048.
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    93. 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 WH. Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy. J Allergy Clin Immunol. 2011 Mar; 127(3):661-7. PMID: 21377035.
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    94. Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ. A large mutational study in pachyonychia congenita. J Invest Dermatol. 2011 May; 131(5):1018-24. PMID: 21326300.
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    95. Kezic S, O'Regan GM, Yau N, Sandilands A, Chen H, Campbell LE, Kroboth K, Watson R, Rowland M, McLean WH, Irvine AD. Levels of filaggrin degradation products are influenced by both filaggrin genotype and atopic dermatitis severity. Allergy. 2011 Jul; 66(7):934-40. PMID: 21261659.
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    96. Hickerson RP, Leachman SA, Pho LN, Gonzalez-Gonzalez E, Smith FJ, McLean WH, Contag CH, Leake D, Milstone LM, Kaspar RL. Development of quantitative molecular clinical end points for siRNA clinical trials. J Invest Dermatol. 2011 May; 131(5):1029-36. PMID: 21191405.
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    97. Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean WH, Wen Y, Bagatell R, Griffin TA, Shwayder TA, Plon SE, Wang LL. Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A. 2011 Feb; 155A(2):337-42. PMID: 21271650.
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    98. Flohr C, England K, Radulovic S, McLean WH, Campbel LE, Barker J, Perkin M, Lack G. Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of age. Br J Dermatol. 2010 Dec; 163(6):1333-6. PMID: 21137118.
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    99. Jakasa I, Koster ES, Calkoen F, McLean WH, Campbell LE, Bos JD, Verberk MM, Kezic S. Skin barrier function in healthy subjects and patients with atopic dermatitis in relation to filaggrin loss-of-function mutations. J Invest Dermatol. 2011 Feb; 131(2):540-2. PMID: 20962854.
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    100. Strange A, Capon F, Spencer CC, Knight J, Weale ME, Allen MH, Barton A, Band G, Bellenguez C, Bergboer JG, Blackwell JM, Bramon E, Bumpstead SJ, Casas JP, Cork MJ, Corvin A, Deloukas P, Dilthey A, Duncanson A, Edkins S, Estivill X, Fitzgerald O, Freeman C, Giardina E, Gray E, Hofer A, H?ffmeier U, Hunt SE, Irvine AD, Jankowski J, Kirby B, Langford C, Lascorz J, Leman J, Leslie S, Mallbris L, Markus HS, Mathew CG, McLean WH, McManus R, M?ssner R, Moutsianas L, Naluai AT, Nestle FO, Novelli G, Onoufriadis A, Palmer CN, Perricone C, Pirinen M, Plomin R, Potter SC, Pujol RM, Rautanen A, Riveira-Munoz E, Ryan AW, Salmhofer W, Samuelsson L, Sawcer SJ, Schalkwijk J, Smith CH, St?hle M, Su Z, Tazi-Ahnini R, Traupe H, Viswanathan AC, Warren RB, Weger W, Wolk K, Wood N, Worthington J, Young HS, Zeeuwen PL, Hayday A, Burden AD, Griffiths CE, Kere J, Reis A, McVean G, Evans DM, Brown MA, Barker JN, Peltonen L, Donnelly P, Trembath RC. A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet. 2010 Nov; 42(11):985-90. PMID: 20953190.
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    101. O'Regan GM, Kemperman PM, Sandilands A, Chen H, Campbell LE, Kroboth K, Watson R, Rowland M, Puppels GJ, McLean WH, Caspers PJ, Irvine AD. Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol. 2010 Sep; 126(3):574-80.e1. PMID: 20621340.
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    102. Osawa R, Konno S, Akiyama M, Nemoto-Hasebe I, Nomura T, Nomura Y, Abe R, Sandilands A, McLean WH, Hizawa N, Nishimura M, Shimizu H. Japanese-specific filaggrin gene mutations in Japanese patients suffering from atopic eczema and asthma. J Invest Dermatol. 2010 Dec; 130(12):2834-6. PMID: 20686498.
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    103. Chervet L, Galichet A, McLean WH, Chen H, Suter MM, Roosje PJ, M?ller EJ. Missing C-terminal filaggrin expression, NFkappaB activation and hyperproliferation identify the dog as a putative model to study epidermal dysfunction in atopic dermatitis. Exp Dermatol. 2010 Aug; 19(8):e343-6. PMID: 20626465.
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    104. Nomura Y, Akiyama M, Nomura T, Nemoto-Hasebe I, Abe R, McLean WH, Shimizu H. Chromosome 11q13.5 variant: No association with atopic eczema in the Japanese population. J Dermatol Sci. 2010 Sep; 59(3):210-2. PMID: 20656460.
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    105. Bergboer JG, Zeeuwen PL, Irvine AD, Weidinger S, Giardina E, Novelli G, Den Heijer M, Rodriguez E, Illig T, Riveira-Munoz E, Campbell LE, Tyson J, Dannhauser EN, O'Regan GM, Galli E, Klopp N, Koppelman GH, Novak N, Estivill X, McLean WH, Postma DS, Armour JA, Schalkwijk J. Deletion of Late Cornified Envelope 3B and 3C genes is not associated with atopic dermatitis. J Invest Dermatol. 2010 Aug; 130(8):2057-61. PMID: 20376060.
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    106. O'Regan GM, Campbell LE, Cordell HJ, Irvine AD, McLean WH, Brown SJ. Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. J Allergy Clin Immunol. 2010 Jan; 125(1):170-4.e1-2. PMID: 20109745.
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    107. Hamill KJ, Langbein L, Jones JC, McLean WH. Identification of a novel family of laminin N-terminal alternate splice isoforms: structural and functional characterization. J Biol Chem. 2009 Dec 18; 284(51):35588-96. PMID: 19773554.
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    108. Schuttelaar ML, Kerkhof M, Jonkman MF, Koppelman GH, Brunekreef B, de Jongste JC, Wijga A, McLean WH, Postma DS. Filaggrin mutations in the onset of eczema, sensitization, asthma, hay fever and the interaction with cat exposure. Allergy. 2009 Dec; 64(12):1758-65. PMID: 19839980.
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    109. O'Regan GM, Sandilands A, McLean WH, Irvine AD. Filaggrin in atopic dermatitis. J Allergy Clin Immunol. 2009 Sep; 124(3 Suppl 2):R2-6. PMID: 19720209.
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    110. Kaspar RL, McLean WH, Schwartz ME. Achieving successful delivery of nucleic acids to skin: 6th Annual Meeting of the International Pachyonychia Congenita Consortium. J Invest Dermatol. 2009 Sep; 129(9):2085-7. PMID: 19809420.
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    111. Nemoto-Hasebe I, Akiyama M, Nomura T, Sandilands A, McLean WH, Shimizu H. FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema. Br J Dermatol. 2009 Dec; 161(6):1387-90. PMID: 19663875.
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    112. Gass JK, Wilson NJ, Smith FJ, Lane EB, McLean WH, Rytina E, Salvary I, Burrows NP. Steatocystoma multiplex, oligodontia and partial persistent primary dentition associated with a novel keratin 17 mutation. Br J Dermatol. 2009 Dec; 161(6):1396-8. PMID: 19659471.
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    113. Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ. Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol. 2010 Feb; 130(2):425-9. PMID: 19609311.
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    114. Zamiri M, Smith FJ, Campbell LE, Tetley L, Eady RA, Hodgins MB, McLean WH, Munro CS. Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma. Br J Dermatol. 2009 Sep; 161(3):692-4. PMID: 19558595.
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    115. Brown SJ, Relton CL, Liao H, Zhao Y, Sandilands A, McLean WH, Cordell HJ, Reynolds NJ. Filaggrin haploinsufficiency is highly penetrant and is associated with increased severity of eczema: further delineation of the skin phenotype in a prospective epidemiological study of 792 school children. Br J Dermatol. 2009 Oct; 161(4):884-9. PMID: 19681860.
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    116. Rodriguez S, Hall AJ, Granell R, McLean WH, Irvine AD, Palmer CN, Smith GD, Henderson J, Day IN. Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort. PLoS One. 2009 Jun 03; 4(6):e5784. PMID: 19492053.
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    117. Sun M, Li N, Dong W, Chen Z, Liu Q, Xu Y, He G, Shi Y, Li X, Hao J, Luo Y, Shang D, Lv D, Ma F, Zhang D, Hua R, Lu C, Wen Y, Cao L, Irvine AD, McLean WH, Dong Q, Wang MR, Yu J, He L, Lo WH, Zhang X. Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet. 2009 Jun; 84(6):807-13. PMID: 19463983.
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    118. Sandilands A, Sutherland C, Irvine AD, McLean WH. Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci. 2009 May 01; 122(Pt 9):1285-94. PMID: 19386895.
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    119. Fallon PG, Sasaki T, Sandilands A, Campbell LE, Saunders SP, Mangan NE, Callanan JJ, Kawasaki H, Shiohama A, Kubo A, Sundberg JP, Presland RB, Fleckman P, Shimizu N, Kudoh J, Irvine AD, Amagai M, McLean WH. A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming. Nat Genet. 2009 May; 41(5):602-8. PMID: 19349982.
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    120. Hsu CK, Akiyama M, Nemoto-Hasebe I, Nomura T, Sandilands A, Chao SC, Lee JY, Sheu HM, McLean WH, Shimizu H. Analysis of Taiwanese ichthyosis vulgaris families further demonstrates differences in FLG mutations between European and Asian populations. Br J Dermatol. 2009 Aug; 161(2):448-51. PMID: 19416262.
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    121. Brown SJ, McLean WH. Eczema genetics: current state of knowledge and future goals. J Invest Dermatol. 2009 Mar; 129(3):543-52. PMID: 19209157.
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    122. Oji V, Seller N, Sandilands A, Gruber R, Gerss J, H?ffmeier U, Hamm H, Emmert S, Aufenvenne K, Metze D, Luger T, Loser K, Hausser I, Traupe H, McLean WH. Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. Br J Dermatol. 2009 Apr; 160(4):771-81. PMID: 19183181.
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    123. Pujal J, Huch M, Jos? A, Abasolo I, Rodolosse A, Duch A, S?nchez-Palaz?n L, Smith FJ, McLean WH, Fillat C, Real FX. Keratin 7 promoter selectively targets transgene expression to normal and neoplastic pancreatic ductal cells in vitro and in vivo. FASEB J. 2009 May; 23(5):1366-75. PMID: 19124560.
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    124. Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, N?then MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet. 2009 Feb; 41(2):228-33. PMID: 19122663.
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    125. Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, Palmer CN, Smith FJ, McLean WH, Shimizu H. Prevalent and rare mutations in the gene encoding filaggrin in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Invest Dermatol. 2009 May; 129(5):1302-5. PMID: 19037238.
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    126. Sergeant A, Campbell LE, Hull PR, Porter M, Palmer CN, Smith FJ, McLean WH, Munro CS. Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly. J Invest Dermatol. 2009 Apr; 129(4):1042-5. PMID: 18987673.
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    127. Nemoto-Hasebe I, Akiyama M, Nomura T, Sandilands A, McLean WH, Shimizu H. Clinical severity correlates with impaired barrier in filaggrin-related eczema. J Invest Dermatol. 2009 Mar; 129(3):682-9. PMID: 18818676.
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    128. Chen H, Toh TK, Szeverenyi I, Ong RT, Theng CT, McLean WH, Seielstad M, Lane EB. Association of skin barrier genes within the PSORS4 locus is enriched in Singaporean Chinese with early-onset psoriasis. J Invest Dermatol. 2009 Mar; 129(3):606-14. PMID: 18787534.
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    131. Zamiri M, McLean WH, Hodgins MB, Munro CS. Pachyonychia congenita type 2: abnormal dentition extending into adulthood. Br J Dermatol. 2008 Aug; 159(2):500-1. PMID: 18547314.
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    132. Leachman SA, Hickerson RP, Hull PR, Smith FJ, Milstone LM, Lane EB, Bale SJ, Roop DR, McLean WH, Kaspar RL. Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita. J Dermatol Sci. 2008 Sep; 51(3):151-7. PMID: 18495438.
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    133. McLean WH, Palmer CN, Henderson J, Kabesch M, Weidinger S, Irvine AD. Filaggrin variants confer susceptibility to asthma. J Allergy Clin Immunol. 2008 May; 121(5):1294-5; author reply 1295-6. PMID: 18395783.
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    134. Weidinger S, O'Sullivan M, Illig T, Baurecht H, Depner M, Rodriguez E, Ruether A, Klopp N, Vogelberg C, Weiland SK, McLean WH, von Mutius E, Irvine AD, Kabesch M. Filaggrin mutations, atopic eczema, hay fever, and asthma in children. J Allergy Clin Immunol. 2008 May; 121(5):1203-1209.e1. PMID: 18396323.
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    135. Henderson J, Northstone K, Lee SP, Liao H, Zhao Y, Pembrey M, Mukhopadhyay S, Smith GD, Palmer CN, McLean WH, Irvine AD. The burden of disease associated with filaggrin mutations: a population-based, longitudinal birth cohort study. J Allergy Clin Immunol. 2008 Apr; 121(4):872-7.e9. PMID: 18325573.
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    137. Kezic S, Kemperman PM, Koster ES, de Jongh CM, Thio HB, Campbell LE, Irvine AD, McLean WH, McLean IW, Puppels GJ, Caspers PJ. Loss-of-function mutations in the filaggrin gene lead to reduced level of natural moisturizing factor in the stratum corneum. J Invest Dermatol. 2008 Aug; 128(8):2117-9. PMID: 18305568.
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    138. Basu K, Palmer CN, Lipworth BJ, McLean WH, Terron-Kwiatkowski A, Zhao Y, Liao H, Smith FJ, Mitra A, Mukhopadhyay S. Filaggrin null mutations are associated with increased asthma exacerbations in children and young adults. Allergy. 2008 Sep; 63(9):1211-7. PMID: 18307574.
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    139. Chen H, Ho JC, Sandilands A, Chan YC, Giam YC, Evans AT, Lane EB, McLean WH. Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol. 2008 Jul; 128(7):1669-75. PMID: 18239616.
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    140. Nomura T, Akiyama M, Sandilands A, Nemoto-Hasebe I, Sakai K, Nagasaki A, Ota M, Hata H, Evans AT, Palmer CN, Shimizu H, McLean WH. Specific filaggrin mutations cause ichthyosis vulgaris and are significantly associated with atopic dermatitis in Japan. J Invest Dermatol. 2008 Jun; 128(6):1436-41. PMID: 18200065.
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    141. Brown SJ, Sandilands A, Zhao Y, Liao H, Relton CL, Meggitt SJ, Trembath RC, Barker JN, Reynolds NJ, Cordell HJ, McLean WH. Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema. J Invest Dermatol. 2008 Jun; 128(6):1591-4. PMID: 18094728.
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    142. Hamada T, Sandilands A, Fukuda S, Sakaguchi S, Ohyama B, Yasumoto S, McLean WH, Hashimoto T. De novo occurrence of the filaggrin mutation p.R501X with prevalent mutation c.3321delA in a Japanese family with ichthyosis vulgaris complicated by atopic dermatitis. J Invest Dermatol. 2008 May; 128(5):1323-5. PMID: 18007582.
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    143. Hickerson RP, Smith FJ, Reeves RE, Contag CH, Leake D, Leachman SA, Milstone LM, McLean WH, Kaspar RL. Single-nucleotide-specific siRNA targeting in a dominant-negative skin model. J Invest Dermatol. 2008 Mar; 128(3):594-605. PMID: 17914454.
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    144. Smith FJ, Hickerson RP, Sayers JM, Reeves RE, Contag CH, Leake D, Kaspar RL, McLean WH. Development of therapeutic siRNAs for pachyonychia congenita. J Invest Dermatol. 2008 Jan; 128(1):50-8. PMID: 17762855.
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    145. Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci. 2007 Dec; 48(3):199-205. PMID: 17719747.
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    146. Liao H, Waters AJ, Goudie DR, Aitken DA, Graham G, Smith FJ, Lewis-Jones S, McLean WH. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J Invest Dermatol. 2007 Dec; 127(12):2795-8. PMID: 17657246.
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    147. Sandilands A, Smith FJ, Irvine AD, McLean WH. Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol. 2007 Jun; 127(6):1282-4. PMID: 17502856.
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    148. Palmer CN, Ismail T, Lee SP, Terron-Kwiatkowski A, Zhao Y, Liao H, Smith FJ, McLean WH, Mukhopadhyay S. Filaggrin null mutations are associated with increased asthma severity in children and young adults. J Allergy Clin Immunol. 2007 Jul; 120(1):64-8. PMID: 17531295.
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    149. McLean WH, Irvine AD. Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues. Ulster Med J. 2007 May; 76(2):72-82. PMID: 17476820.
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    150. Sandilands A, Terron-Kwiatkowski A, Hull PR, O'Regan GM, Clayton TH, Watson RM, Carrick T, Evans AT, Liao H, Zhao Y, Campbell LE, Schmuth M, Gruber R, Janecke AR, Elias PM, van Steensel MA, Nagtzaam I, van Geel M, Steijlen PM, Munro CS, Bradley DG, Palmer CN, Smith FJ, McLean WH, Irvine AD. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet. 2007 May; 39(5):650-4. PMID: 17417636.
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    151. Zhao Y, Terron-Kwiatkowski A, Liao H, Lee SP, Allen MH, Hull PR, Campbell LE, Trembath RC, Capon F, Griffiths CE, Burden D, McManus R, Hughes R, Kirby B, Rogers SF, Fitzgerald O, Kane D, Barker JN, Palmer CN, Irvine AD, McLean WH. Filaggrin null alleles are not associated with psoriasis. J Invest Dermatol. 2007 Aug; 127(8):1878-82. PMID: 17410197.
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    152. Nomura T, Sandilands A, Akiyama M, Liao H, Evans AT, Sakai K, Ota M, Sugiura H, Yamamoto K, Sato H, Palmer CN, Smith FJ, McLean WH, Shimizu H. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol. 2007 Feb; 119(2):434-40. PMID: 17291859.
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    153. McLean WH, Hull PR. Breach delivery: increased solute uptake points to a defective skin barrier in atopic dermatitis. J Invest Dermatol. 2007 Jan; 127(1):8-10. PMID: 17170718.
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    154. Hickerson RP, Smith FJ, McLean WH, Landthaler M, Leube RE, Kaspar RL. SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder pachyonychia congenita. Ann N Y Acad Sci. 2006 Oct; 1082:56-61. PMID: 17145926.
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    155. Barker JN, Palmer CN, Zhao Y, Liao H, Hull PR, Lee SP, Allen MH, Meggitt SJ, Reynolds NJ, Trembath RC, McLean WH. Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol. 2007 Mar; 127(3):564-7. PMID: 16990802.
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    156. Liao H, Zhao Y, Baty DU, McGrath JA, Mellerio JE, McLean WH. A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol. 2007 Feb; 127(2):298-300. PMID: 16917491.
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    157. Sandilands A, O'Regan GM, Liao H, Zhao Y, Terron-Kwiatkowski A, Watson RM, Cassidy AJ, Goudie DR, Smith FJ, McLean WH, Irvine AD. Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol. 2006 Aug; 126(8):1770-5. PMID: 16810297.
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    158. Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A, Klopp N, Wagenpfeil S, Zhao Y, Liao H, Lee SP, Palmer CN, Jenneck C, Maintz L, Hagemann T, Behrendt H, Ring J, Nothen MM, McLean WH, Novak N. Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. J Allergy Clin Immunol. 2006 Jul; 118(1):214-9. PMID: 16815158.
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    159. Irvine AD, McLean WH. Breaking the (un)sound barrier: filaggrin is a major gene for atopic dermatitis. J Invest Dermatol. 2006 Jun; 126(6):1200-2. PMID: 16702964.
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    160. Palmer CN, Irvine AD, Terron-Kwiatkowski A, Zhao Y, Liao H, Lee SP, Goudie DR, Sandilands A, Campbell LE, Smith FJ, O'Regan GM, Watson RM, Cecil JE, Bale SJ, Compton JG, DiGiovanna JJ, Fleckman P, Lewis-Jones S, Arseculeratne G, Sergeant A, Munro CS, El Houate B, McElreavey K, Halkjaer LB, Bisgaard H, Mukhopadhyay S, McLean WH. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet. 2006 Apr; 38(4):441-6. PMID: 16550169.
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    161. Terron-Kwiatkowski A, van Steensel MA, van Geel M, Lane EB, McLean WH, Steijlen PM. Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin. J Invest Dermatol. 2006 Mar; 126(3):607-13. PMID: 16439967.
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    162. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006 Mar; 38(3):337-42. PMID: 16444271.
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    163. Milingou M, Wood P, Masouy? I, McLean WH, Borradori L. Focal palmoplantar keratoderma caused by an autosomal dominant inherited mutation in the desmoglein 1 gene. Dermatology. 2006; 212(2):117-22. PMID: 16484817.
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    164. Cassidy AJ, van Steensel MA, Steijlen PM, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WH. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet. 2005 Dec; 77(6):909-17. PMID: 16380904.
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    165. McLean WH, Smith FJ, Cassidy AJ. Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database. J Investig Dermatol Symp Proc. 2005 Oct; 10(1):31-6. PMID: 16250207.
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    166. Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, Lunny DP, Milstone LM, van Steensel MA, Munro CS, O'Toole EA, Celebi JT, Kansky A, Lane EB. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct; 10(1):3-17. PMID: 16250204.
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    167. Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, van Steensel MA, Bj?rck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS, McLean WH. The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct; 10(1):21-30. PMID: 16250206.
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    168. Hamill KJ, McLean WH. The alpha-3 polypeptide chain of laminin 5: insight into wound healing responses from the study of genodermatoses. Clin Exp Dermatol. 2005 Jul; 30(4):398-404. PMID: 15953081.
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    169. Morley SM, White MI, Rogers M, Wasserman D, Ratajczak P, McLean WH, Richard G. A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis. Br J Dermatol. 2005 Jun; 152(6):1143-8. PMID: 15948974.
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    170. Garc?a-Rio I, Pe?as PF, Garc?a-D?ez A, McLean WH, Smith FJ. A severe case of pachyonychia congenita type I due to a novel proline mutation in keratin 6a. Br J Dermatol. 2005 Apr; 152(4):800-2. PMID: 15840119.
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    171. White SJ, McLean WH. Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome. J Dermatol Sci. 2005 Jun; 38(3):169-75. PMID: 15927810.
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    172. Lane EB, McLean WH. Keratins and skin disorders. J Pathol. 2004 Nov; 204(4):355-66. PMID: 15495218.
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    173. Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H, Jenkins T, McLean WH, McGrath JA, Ramsay M. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol. 2004 Aug; 151(2):413-23. PMID: 15327549.
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    174. Terron-Kwiatkowski A, Terrinoni A, Didona B, Melino G, Atherton DJ, Irvine AD, McLean WH. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene. Br J Dermatol. 2004 Jun; 150(6):1096-103. PMID: 15214894.
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    175. McLean WH. Close shave for a keratin disorder-K6hf polymorphism linked to Pseudofolliculitis barbae. J Invest Dermatol. 2004 Mar; 122(3):xi-xiii. PMID: 15086588.
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    176. Porter RM, Gandhi M, Wilson NJ, Wood P, McLean WH, Lane EB. Functional analysis of keratin components in the mouse hair follicle inner root sheath. Br J Dermatol. 2004 Feb; 150(2):195-204. PMID: 14996088.
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    177. Smith FJ, Sandilands A, McLean WH. Molecular genetics methods for human intermediate filament diseases. Methods Cell Biol. 2004; 78:131-61. PMID: 15646618.
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    178. Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol. 2004 Jan; 122(1):78-83. PMID: 14962093.
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    179. Smith FJ, Morley SM, McLean WH. Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol. 2004 Jan; 122(1):73-7. PMID: 14962092.
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    180. van Steensel MA, Jonkman MF, van Geel M, Steijlen PM, McLean WH, Smith FJ. Clouston syndrome can mimic pachyonychia congenita. J Invest Dermatol. 2003 Nov; 121(5):1035-8. PMID: 14708603.
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    181. McLean WH, Irvine AD, Hamill KJ, Whittock NV, Coleman-Campbell CM, Mellerio JE, Ashton GS, Dopping-Hepenstal PJ, Eady RA, Jamil T, Phillips R, Shabbir SG, Haroon TS, Khurshid K, Moore JE, Page B, Darling J, Atherton DJ, Van Steensel MA, Munro CS, Smith FJ, McGrath JA, Phillips RJ. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet. 2003 Sep 15; 12(18):2395-409. PMID: 12915477.
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    182. Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003 Jul; 73(1):174-87. PMID: 12789646.
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    183. Ciubotaru D, Bergman R, Baty D, Indelman M, Pfendner E, Petronius D, Moualem H, Kanaan M, Ben Amitai D, McLean WH, Uitto J, Sprecher E. Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol. 2003 Apr; 139(4):498-505. PMID: 12707098.
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    184. Wood P, Baty DU, Lane EB, McLean WH. Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. J Invest Dermatol. 2003 Mar; 120(3):495-7. PMID: 12603865.
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    185. McLean WH. Genetic disorders of palm skin and nail. J Anat. 2003 Jan; 202(1):133-41. PMID: 12587928.
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    186. Irvine AD, McLean WH. The molecular genetics of the genodermatoses: progress to date and future directions. Br J Dermatol. 2003 Jan; 148(1):1-13. PMID: 12534588.
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    187. Smith FJ, Porter RM, Corden LD, Lunny DP, Lane EB, McLean WH. Cloning of human, murine, and marsupial keratin 7 and a survey of K7 expression in the mouse. Biochem Biophys Res Commun. 2002 Oct 04; 297(4):818-27. PMID: 12359226.
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    188. Terron-Kwiatkowski A, Paller AS, Compton J, Atherton DJ, McLean WH, Irvine AD. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. J Invest Dermatol. 2002 Oct; 119(4):966-71. PMID: 12406346.
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    189. Porter RM, Jahoda CA, Lunny DP, Henderson G, Ross J, McLean WH, Whittock NV, Wilson NJ, Reichelt J, Magin TM, Lane EB. Defolliculated (dfl): a dominant mouse mutation leading to poor sebaceous gland differentiation and total elimination of pelage follicles. J Invest Dermatol. 2002 Jul; 119(1):32-7. PMID: 12164921.
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    190. Irvine AD, Coleman CM, Moore JE, Swensson O, Morgan SJ, McCarthy JH, Smith FJ, Black GC, McLean WH. A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy. Br J Ophthalmol. 2002 Jul; 86(7):729-32. PMID: 12084738.
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    191. Whittock NV, Smith FJ, Wan H, Mallipeddi R, Griffiths WA, Dopping-Hepenstal P, Ashton GH, Eady RA, McLean WH, McGrath JA. Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol. 2002 May; 118(5):838-44. PMID: 11982762.
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    192. Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJ, Mellerio JE, Whittock NV, Munro CS, van Steensel MA, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RA, McGrath JA. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 2002 Apr 01; 11(7):833-40. PMID: 11929856.
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    193. Smith FJ, Morley SM, McLean WH. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol. 2002 Mar; 118(3):530-2. PMID: 11874494.
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    194. Cobb CJ, Scott G, Swingler RJ, Wilson S, Ellis J, MacEwen CJ, McLean WH. Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma. Br J Ophthalmol. 2002 Feb; 86(2):191-5. PMID: 11815346.
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    195. Whittock NV, Wan H, Morley SM, Garzon MC, Kristal L, Hyde P, McLean WH, Pulkkinen L, Uitto J, Christiano AM, Eady RA, McGrath JA. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol. 2002 Feb; 118(2):232-8. PMID: 11841538.
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    196. Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol. 2001 Dec; 117(6):1391-6. PMID: 11886499.
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    197. Porter RM, Corden LD, Lunny DP, Smith FJ, Lane EB, McLean WH. Keratin K6irs is specific to the inner root sheath of hair follicles in mice and humans. Br J Dermatol. 2001 Oct; 145(4):558-68. PMID: 11703281.
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    198. Bleck O, Ashton GH, Mallipeddi R, South AP, Whittock NV, McLean WH, Atherton DJ, McGrath JA. Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica. Arch Dermatol Res. 2001 Aug; 293(8):392-6. PMID: 11686514.
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    199. Smith FJ, Coleman CM, Bayoumy NM, Tenconi R, Nelson J, David A, McLean WH. Novel keratin 17 mutations in pachyonychia congenita type 2. J Invest Dermatol. 2001 May; 116(5):806-8. PMID: 11348474.
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    200. Connors JB, Rahil AK, Smith FJ, McLean WH, Milstone LM. Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. Br J Dermatol. 2001 May; 144(5):1058-62. PMID: 11359398.
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    201. Terrinoni A, Rugg EL, Lane EB, Melino G, Felix DH, Munro CS, McLean WH. A novel mutation in the keratin 13 gene causing oral white sponge nevus. J Dent Res. 2001 Mar; 80(3):919-23. PMID: 11379896.
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    202. Whittock NV, McLean WH. Genomic organization, amplification, fine mapping, and intragenic polymorphisms of the human hemidesmosomal tetraspanin CD151 gene. Biochem Biophys Res Commun. 2001 Feb 23; 281(2):425-30. PMID: 11181065.
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    203. Irvine AD, Smith FJ, Shum KW, Williams HC, McLean WH. A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. Clin Exp Dermatol. 2000 Nov; 25(8):648-51. PMID: 11167982.
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    204. Porter RM, Lunny DP, Ogden PH, Morley SM, McLean WH, Evans A, Harrison DL, Rugg EL, Lane EB. K15 expression implies lateral differentiation within stratified epithelial basal cells. Lab Invest. 2000 Nov; 80(11):1701-10. PMID: 11092530.
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    205. Whittock NV, Coleman CM, McLean WH, Ashton GH, Acland KM, Eady RA, McGrath JA. The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21. J Invest Dermatol. 2000 Oct; 115(4):694-8. PMID: 10998145.
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    206. Toth GG, Van Goor H, McLean WH, Jonkman MF. [Pachyonychia congenita type 2 due to mutation in the keratin 6b gene]. Ned Tijdschr Geneeskd. 2000 Aug 05; 144(32):1563-4. PMID: 10979817.
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    207. Smith FJ, Fisher MP, Healy E, Rees JL, Bonifas JM, Epstein EH, Tan EM, Uitto J, McLean WH. Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. Exp Dermatol. 2000 Jun; 9(3):170-7. PMID: 10839714.
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    208. Terrinoni A, Puddu P, Didona B, De Laurenzi V, Candi E, Smith FJ, McLean WH, Melino G. A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. J Invest Dermatol. 2000 Jun; 114(6):1136-40. PMID: 10844556.
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    209. Corden LD, Swensson O, Swensson B, Rochels R, Wannke B, Thiel HJ, McLean WH. A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy. Br J Ophthalmol. 2000 May; 84(5):527-30. PMID: 10781519.
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    210. Carter JM, McLean WH, West S, Quinlan RA. Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract. Biochem Biophys Res Commun. 2000 Apr 13; 270(2):432-6. PMID: 10753642.
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    211. Corden LD, Swensson O, Swensson B, Smith FJ, Rochels R, Uitto J, McLEAN WH. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res. 2000 Jan; 70(1):41-9. PMID: 10644419.
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    212. Coleman CM, Hannush S, Covello SP, Smith FJ, Uitto J, McLean WH. A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy. Am J Ophthalmol. 1999 Dec; 128(6):687-91. PMID: 10612503.
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    213. Green KJ, Guy SG, Cserhalmi-Friedman PB, McLean WH, Christiano AM, Wagner RM. Analysis of the desmoplakin gene reveals striking conservation with other members of the plakin family of cytolinkers. Exp Dermatol. 1999 Dec; 8(6):462-70. PMID: 10597135.
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    214. Smith FJ, Del Monaco M, Steijlen PM, Munro CS, Morvay M, Coleman CM, Rietveld FJ, Uitto J, McLean WH. Novel proline substitution mutations in keratin 16 in two cases of pachyonychia congenita type 1. Br J Dermatol. 1999 Dec; 141(6):1010-6. PMID: 10606845.
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    215. Smith FJ, McKusick VA, Nielsen K, Pfendner E, Uitto J, McLean WH. Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. Prenat Diagn. 1999 Oct; 19(10):941-6. PMID: 10521820.
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    216. van Steensel M, Smith FJ, Steijlen PM, Kluijt I, Stevens HP, Messenger A, Kremer H, Dunnill MG, Kennedy C, Munro CS, Doherty VR, McGrath JA, Covello SP, Coleman CM, Uitto J, McLean WH. The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. Am J Hum Genet. 1999 Aug; 65(2):413-9. PMID: 10417283.
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    217. Irvine AD, McLean WH. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol. 1999 May; 140(5):815-28. PMID: 10354017.
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    218. McLean WH, Morley SM, Higgins C, Bowden PE, White M, Leigh IM, Lane EB. Novel and recurrent mutations in keratin 10 causing bullous congenital ichthyosiform erythroderma. Exp Dermatol. 1999 Apr; 8(2):120-3. PMID: 10232402.
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    219. Smith FJ, McKenna KE, Irvine AD, Bingham EA, Coleman CM, Uitto J, McLean WH. A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1. Exp Dermatol. 1999 Apr; 8(2):109-14. PMID: 10232400.
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    220. Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA. Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature. Br J Dermatol. 1999 Apr; 140(4):689-95. PMID: 10233323.
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    221. Smith LT, Underwood RA, McLean WH. Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development. Br J Dermatol. 1999 Apr; 140(4):582-91. PMID: 10233306.
      Citations:    
    222. Aho S, Rothenberger K, Tan EM, Ryoo YW, Cho BH, McLean WH, Uitto J. Human periplakin: genomic organization in a clonally unstable region of chromosome 16p with an abundance of repetitive sequence elements. Genomics. 1999 Mar 01; 56(2):160-8. PMID: 10051401.
      Citations:    
    223. Coleman CM, Munro CS, Smith FJ, Uitto J, McLean WH. Epidermolytic palmoplantar keratoderma due to a novel type of keratin mutation, a 3-bp insertion in the keratin 9 helix termination motif. Br J Dermatol. 1999 Mar; 140(3):486-90. PMID: 10233272.
      Citations:    
    224. Sybert VP, Francis JS, Corden LD, Smith LT, Weaver M, Stephens K, McLean WH. Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1. Am J Hum Genet. 1999 Mar; 64(3):732-8. PMID: 10053007.
      Citations:    
    225. Kremer H, Lavrijsen AP, McLean WH, Lane EB, Melchers D, Ruiter DJ, Mariman EC, Steijlen PM. An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1. J Invest Dermatol. 1998 Dec; 111(6):1224-6. PMID: 9856846.
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    226. Covello SP, Irvine AD, McKenna KE, Munro CS, Nevin NC, Smith FJ, Uitto J, McLean WH. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J Invest Dermatol. 1998 Dec; 111(6):1207-9. PMID: 9856842.
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    227. Smith FJ, Maingi C, Covello SP, Higgins C, Schmidt M, Lane EB, Uitto J, Leigh IM, McLean WH. Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. J Invest Dermatol. 1998 Nov; 111(5):817-21. PMID: 9804344.
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    228. Swensson O, Langbein L, McMillan JR, Stevens HP, Leigh IM, McLean WH, Lane EB, Eady RA. Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress. Br J Dermatol. 1998 Nov; 139(5):767-75. PMID: 9892940.
      Citations:    
    229. Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998 Sep; 139(3):475-80. PMID: 9767294.
      Citations:    
    230. Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet. 1998 Jul; 7(7):1143-8. PMID: 9618173.
      Citations:    
    231. Aho S, McLean WH, Li K, Uitto J. cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes. Genomics. 1998 Mar 01; 48(2):242-7. PMID: 9521878.
      Citations:    
    232. Dang M, Pulkkinen L, Smith FJ, McLean WH, Uitto J. Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations. Lab Invest. 1998 Feb; 78(2):195-204. PMID: 9484717.
      Citations:    
    233. Corden LD, Mellerio JE, Gratian MJ, Eady RA, Harper JI, Lacour M, Magee G, Lane EB, McGrath JA, McLean WH. Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex. Hum Mutat. 1998; 11(4):279-85. PMID: 9554744.
      Citations:    
    234. Mellerio JE, Smith FJ, McMillan JR, McLean WH, McGrath JA, Morrison GA, Tierney P, Albert DM, Wiche G, Leigh IM, Geddes JF, Lane EB, Uitto J, Eady RA. Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. Br J Dermatol. 1997 Dec; 137(6):898-906. PMID: 9470905.
      Citations:    
    235. Uitto J, Pulkkinen L, McLean WH. Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. Mol Med Today. 1997 Oct; 3(10):457-65. PMID: 9358473.
      Citations:    
    236. Irvine AD, Corden LD, Swensson O, Swensson B, Moore JE, Frazer DG, Smith FJ, Knowlton RG, Christophers E, Rochels R, Uitto J, McLean WH. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet. 1997 Jun; 16(2):184-7. PMID: 9171831.
      Citations:    
    237. Pulkkinen L, Kimonis VE, Xu Y, Spanou EN, McLean WH, Uitto J. Homozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet. 1997 May; 6(5):669-74. PMID: 9158140.
      Citations:    
    238. Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol. 1997 Feb; 108(2):220-3. PMID: 9008238.
      Citations:    
    239. Corden LD, McLean WH. Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp Dermatol. 1996 Dec; 5(6):297-307. PMID: 9028791.
      Citations:    
    240. Chavanas S, Pulkkinen L, Gache Y, Smith FJ, McLean WH, Uitto J, Ortonne JP, Meneguzzi G. A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996 Nov 15; 98(10):2196-200. PMID: 8941634.
      Citations:    
    241. Jonkman MF, Heeres K, Pas HH, van Luyn MJ, Elema JD, Corden LD, Smith FJ, McLean WH, Ramaekers FC, Burton M, Scheffer H. Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. J Invest Dermatol. 1996 Nov; 107(5):764-9. PMID: 8875963.
      Citations:    
    242. Pulkkinen L, Smith FJ, Shimizu H, Murata S, Yaoita H, Hachisuka H, Nishikawa T, McLean WH, Uitto J. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum Mol Genet. 1996 Oct; 5(10):1539-46. PMID: 8894687.
      Citations:    
    243. Uitto J, Pulkkinen L, Smith FJ, McLean WH. Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp Dermatol. 1996 Oct; 5(5):237-46. PMID: 8981021.
      Citations:    
    244. Smith FJ, Eady RA, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, de Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WH, Lane EB. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet. 1996 Aug; 13(4):450-7. PMID: 8696340.
      Citations:    
    245. McLean WH, Pulkkinen L, Smith FJ, Rugg EL, Lane EB, Bullrich F, Burgeson RE, Amano S, Hudson DL, Owaribe K, McGrath JA, McMillan JR, Eady RA, Leigh IM, Christiano AM, Uitto J. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev. 1996 Jul 15; 10(14):1724-35. PMID: 8698233.
      Citations:    
    246. Rugg EL, McLean WH, Allison WE, Lunny DP, Macleod RI, Felix DH, Lane EB, Munro CS. A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. Nat Genet. 1995 Dec; 11(4):450-2. PMID: 7493030.
      Citations:    
    247. Healy E, Holmes SC, Belgaid CE, Stephenson AM, Mclean WH, Rees JL, Munro CS. A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13. Hum Mol Genet. 1995 Dec; 4(12):2399-402. PMID: 8634717.
      Citations:    
    248. Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WH, Cook LJ, Griffiths WA, Gschmeissner S, et al. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet. 1995 Oct; 4(10):1875-81. PMID: 8595410.
      Citations:    
    249. McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet. 1995 Mar; 9(3):273-8. PMID: 7539673.
      Citations:    
    250. Navsaria HA, Swensson O, Ratnavel RC, Shamsher M, McLean WH, Lane EB, Griffiths D, Eady RA, Leigh IM. Ultrastructural changes resulting from keratin-9 gene mutations in two families with epidermolytic palmoplantar keratoderma. J Invest Dermatol. 1995 Mar; 104(3):425-9. PMID: 7532198.
      Citations:    
    251. McLean WH, Lane EB. Intermediate filaments in disease. Curr Opin Cell Biol. 1995 Feb; 7(1):118-25. PMID: 7538772.
      Citations:    
    252. Rugg EL, McLean WH, Lane EB, Pitera R, McMillan JR, Dopping-Hepenstal PJ, Navsaria HA, Leigh IM, Eady RA. A functional "knockout" of human keratin 14. Genes Dev. 1994 Nov 01; 8(21):2563-73. PMID: 7525407.
      Citations:    
    253. Kremer H, Zeeuwen P, McLean WH, Mariman EC, Lane EB, van de Kerkhof CM, Ropers HH, Steijlen PM. Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. J Invest Dermatol. 1994 Sep; 103(3):286-9. PMID: 8077693.
      Citations:    
    254. McLean WH, Morley SM, Lane EB, Eady RA, Griffiths WA, Paige DG, Harper JI, Higgins C, Leigh IM. Ichthyosis bullosa of Siemens--a disease involving keratin 2e. J Invest Dermatol. 1994 Sep; 103(3):277-81. PMID: 7521371.
      Citations:    
    255. McLean WH, Sultan N, Parfitt E, Lane EB. Polymorphisms in the keratin 8 gene detected by PCR. Hum Mol Genet. 1994 Jun; 3(6):1031. PMID: 7524911.
      Citations:    
    256. Parfitt E, Burge S, Craddock N, Roberts E, McLean WH, Weissenbach J, McGuffin P, Owen M. The gene for Darier's disease maps between D12S78 and D12S79. Hum Mol Genet. 1994 Jan; 3(1):35-8. PMID: 7512859.
      Citations:    
    257. McLean WH, Eady RA, Dopping-Hepenstal PJ, McMillan JR, Leigh IM, Navsaria HA, Higgins C, Harper JI, Paige DG, Morley SM, et al. Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). J Invest Dermatol. 1994 Jan; 102(1):24-30. PMID: 7507152.
      Citations:    
    258. McLean WH, Lane EB. AvaII RFLP of human keratin 10 (KRT-10) detected by PCR. Hum Mol Genet. 1992 Nov; 1(8):659. PMID: 1284473.
      Citations:    
    259. Ennis KT, McLean WH, Hughes AE, Nevin NC. Purification of monocyte esterase using narrow range (pH 5.6-6.6) immobilised pH gradient electrophoresis. Biochem Soc Trans. 1991 Feb; 19(1):58S. PMID: 2037189.
      Citations:    
    260. McLean WH, McKenna KT, Anderson SM, Nevin NC. Protein analysis in epidermolysis bullosa. Biochem Soc Trans. 1991 Feb; 19(1):60S. PMID: 2037191.
      Citations:    
    261. McLean WH, Fogarty BJ, Nevin NC. Monoclonal antibody 1.4D1 detects a glycoprotein secreted by adult human skin fibroblasts. Biochem Soc Trans. 1990 Apr; 18(2):278-9. PMID: 2379716.
      Citations:    
    262. McLean WH, Orchin JC, Foster H, Fogarty BJ, Nevin NC. Localization of a human fibroblast extracellular protein in cells and tissues by monoclonal antibody. Biochem Soc Trans. 1990 Apr; 18(2):279-80. PMID: 2379717.
      Citations:    
    263. McLean WH, Patel K, Hughes AE, Graham CA, Dunn MJ, Nevin NC. Reduced secretion of specific proteins in dystrophic fibroblasts. Biochem Soc Trans. 1990 Apr; 18(2):281-2. PMID: 2379719.
      Citations:    
    264. Graham CA, McLean WH, Hughes AE, Nevin NC. Characterization of human skin fibroblast extracellular proteins by two-dimensional polyacrylamide gel electrophoresis. Electrophoresis. 1988 Jul; 9(7):343-51. PMID: 3234372.
      Citations:    
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