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  • Irwin McLean
2019

A minimally invasive tool to study immune response and skin barrier in children with atopic dermatitis

Hulshof, L., Hack, D. P., Hasnoe, Q. C. J., Dontje, B., Jakasa, I., Riethmüller, C., McLean, W. H. I., van Aalderen, W. M. C., Van't Land, B., Kezic, S., Sprikkelman, A. B. & Middelkamp-Hup, M. A., Mar 2019, In : British Journal of Dermatology. 180, 3, p. 621-630 10 p.

Research output: Contribution to journalArticle

Open Access
File
8 Citations (Scopus)
74 Downloads (Pure)
Open Access
File
2 Citations (Scopus)
103 Downloads (Pure)

Dog ownership at three months of age is associated with protection against food allergy

EAT Study Team, Marrs, T., Logan, K., Craven, J., Radulovic, S., McLean, W. H. I., Lack, G., Flohr, C. & Perkin, M. R., 8 Jul 2019, In : Allergy. 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Filaggrin gene loss-of-function mutations constitute a factor in patients with multiple contact allergies

Elhaji, Y., Sasseville, D., Pratt, M., Asai, Y., Matheson, K., McLean, W. H. I. & Hull, P., Jun 2019, In : Contact Dermatitis. 80, 6, p. 354-358 5 p.

Research output: Contribution to journalArticle

Open Access
File
2 Citations (Scopus)
2 Downloads (Pure)

Longitudinal analysis of the effect of water hardness on atopic eczema: evidence for gene-environment interaction

Jabbar-Lopez, Z. K., Craven, J., Logan, K., Greenblatt, D., Marrs, T., Radulovic, S., McLean, W. H. I., Lack, G., Strachan, D. P., Perkin, M. R., Peacock, J. L. & Flohr, C., 10 Oct 2019, In : British Journal of Dermatology. 9 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Male genital lichen sclerosus and filaggrin

Shim, T. N., Brown, S. J., Francis, N. D., Dinneen, M., Hawkins, D., Muneer, A., Minhas, S., McLean, W. H. I. & Bunker, C. B., 17 Jun 2019, In : Clinical and Experimental Dermatology. 2 p.

Research output: Contribution to journalLetter

Systemic and stratum corneum biomarkers of severity in infant atopic dermatitis include markers of innate and T helper cell-related immunity and angiogenesis

McAleer, M. A., Jakasa, I., Hurault, G., Sarvari, P., McLean, W., Tanaka, R. J., Kezic, S. & Irvine, A. D., Mar 2019, In : British Journal of Dermatology. 180, 3, p. 586-596 11 p.

Research output: Contribution to journalArticle

Open Access
File
11 Citations (Scopus)
121 Downloads (Pure)
2018

A randomized controlled trial protocol assessing the effectiveness, safety and cost-effectiveness of methotrexate vs. ciclosporin in the treatment of severe atopic eczema in children: the TREatment of severe Atopic eczema Trial (TREAT)

Guy's and St Thomas' NHS Foundation Trust, Irvine, A. D., Jones, A. P., Beattie, P., Baron, S., Browne, F., Ashoor, F., O'Neill, L., Rosala-Hallas, A., Sach, T., Spowart, C., Taams, L., Walker, C., Wan, M., Webb, N., Williamson, P. & Flohr, C., Dec 2018, In : British Journal of Dermatology. 179, 6, p. 1297-1306 10 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants

Wong, X. F. C. C., Denil, S. L. I. J., Foo, J. N., Chen, H., Ling Tay, A. S., Haines, R. L., Tang, M. B. Y., McLean, W. H. I., Sandilands, A., Smith, F. J. D., Lane, E. B., Liu, J. & Common, J. E. A., Feb 2018, In : Journal of Allergy and Clinical Immunology. 141, 2, p. 814-816 3 p.

Research output: Contribution to journalLetter

Open Access
File
15 Citations (Scopus)
227 Downloads (Pure)

Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus

Kürklü, E., Öztürk, Ş., Cassidy, A. J., Ak, G., Koray, M., Çefle, K., Palandüz, Ş., Güllüoğlu, M. G., Tanyeri, H. & McLean, W. H. I., 1 Mar 2018, In : Medicina Oral Patologia Oral y Cirugia Bucal. 23, 2, p. e144-e150 7 p., 21437.

Research output: Contribution to journalArticle

Open Access
File
2 Citations (Scopus)
112 Downloads (Pure)
Open Access
File
5 Citations (Scopus)
176 Downloads (Pure)

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

McAleer, M. A., Jaska, I., Raj, N., O'Donnell, C. P. F., Lane, M. E., Rawlings, A. V., Voegeli, R., McLean, W., Kezic, S. & Irvine, A. D., Aug 2018, In : British Journal of Dermatology. 179, 2, p. 431-441 11 p.

Research output: Contribution to journalArticle

Open Access
File
11 Citations (Scopus)
77 Downloads (Pure)

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes

Pigors, M., Common, J. E. A., Wong, X. F. C. C., Malik, S., Scott, C. A., Tabarra, N., Liany, H., Liu, J., Limviphuvadh, V., Maurer-Stroh, S., Tang, M. B., Lench, N., Margolis, D. J., van Heel, D. A., Mein, C. A., Novak, N., Baurecht, H., Weidinger, S., McLean, W. H. I., Irvine, A. D. & 3 others, O'Toole, E. A., Simpson, M. A. & Kelsell, D. P., Dec 2018, In : Journal of Investigative Dermatology. 138, 12, p. 2674-2677 4 p.

Research output: Contribution to journalLetter

Open Access
File
8 Citations (Scopus)
66 Downloads (Pure)

Filaggrin gene mutations may influence the persistence of food allergies in Japanese primary school children

Kono, M., Akiyama, M., Inoue, Y., Nomura, T., Hata, A., Okamoto, Y., Takeichi, T., Muro, Y., McLean, W. H. I., Shimizu, H., Sugiura, K., Suzuki, Y. & Shimojo, N., 19 Jul 2018, In : British Journal of Dermatology. 179, 1, p. 190-191 2 p.

Research output: Contribution to journalLetter

Open Access
File
2 Citations (Scopus)
136 Downloads (Pure)

Gentamicin-induced readthrough and nonsense-mediated mRNA decay of SERPINB7 nonsense mutant transcripts

Ohguchi, Y., Nomura, T., Suzuki, S., Takeda, M., Miyauchi, T., Mizuno, O., Shinkuma, S., Fujita, Y., Nemoto, O., Ono, K., McLean, W. H. I. & Shimizu, H., 1 Apr 2018, In : Journal of Investigative Dermatology. 138, 4, p. 836-843 8 p.

Research output: Contribution to journalArticle

Open Access
File
6 Citations (Scopus)
141 Downloads (Pure)

Lysosomal protease deficiency or substrate overload induces an oxidative-stress mediated STAT3-dependent pathway of lysosomal homeostasis

Martinez-Fabregas, J., Prescott, A., van Kasteren, S., Leslie Pedrioli, D., McLean, W., Moles, A., Reinheckel, T., Poli, V. & Watts, C., 17 Dec 2018, In : Nature Communications. 9, 1, p. 1-16 16 p., 5343.

Research output: Contribution to journalArticle

Open Access
File
6 Citations (Scopus)
109 Downloads (Pure)

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Portnoi, M-F., Dumargne, M-C., Rojo, S., Witchel, S. F., Duncan, A. J., Eozenou, C., Bignon-Topalovic, J., Yatsenko, S. A., 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. & 18 others, Brauner, R., Rossetti, R., Persani, L., Charreau, E. H., Dain, L., Chiauzzi, V. A., Mazen, I., Rouba, H., Schluth-Bolard, C., MacGowan, S., McLean, W. H. I., Patin, E., Rajpert-De Meyts, E., Jauch, R., Achermann, J. C., Siffroi, J-P., McElreavey, K. & Bashamboo, A., 1 Apr 2018, In : Human Molecular Genetics. 27, 7, p. 1228-1240 13 p.

Research output: Contribution to journalArticle

Open Access
File
15 Citations (Scopus)
134 Downloads (Pure)

Patients with atopic dermatitis with filaggrin loss-of-function mutations show good but lower responses to immunosuppressive treatment

Roekevisch, E., Leeflang, M. M. G., Schram, M. E., Campbell, L. E., Irwin McLean, W. H., Kezic, S., Bos, J. D., Spuls, P. I. & Middelkamp-Hup, M. A., 8 Jan 2018, In : British Journal of Dermatology. 177, 6, p. 1745-1746 2 p.

Research output: Contribution to journalLetter

Open Access
File
2 Citations (Scopus)
125 Downloads (Pure)
2017

Biallelic mutations in KDSR disrupt ceramide synthesis and result in a spectrum of keratinization disorders associated with thrombocytopenia

Takeichi, T., Torrelo, A., Lee, J. Y. W., Ohno, Y., Lozano, M. L., Kihara, A., Liu, L., Yasuda, Y., Ishikawa, J., Murase, T., Rodrigo, A. B., Fernández-Crehuet, P., Toi, Y., Mellerio, J. E., Rivera, J., Vicente, V., Kelsell, D. P., Nishimura, Y., Okuno, Y., Kojima, D. & 6 others, Ogawa, Y., Sugiura, K., Simpson, M. A., McLean, W. H. I., Akiyama, M. & McGrath, J. A., Nov 2017, In : Journal of Investigative Dermatology. 137, 11, p. 2344-2353 10 p.

Research output: Contribution to journalArticle

Open Access
File
19 Citations (Scopus)
158 Downloads (Pure)

Calpain 12 function revealed through the study of an atypical case of autosomal recessive congenital ichthyosis

Bochner, R., Samuelov, L., Sarig, O., Li, Q., Adase, C. A., Isakov, O., Malchin, N., Vodo, D., Shayevitch, R., Peled, A., Yu, B. D., Fainberg, G., Warshauer, E., Adir, N., Erez, N., Gat, A., Gottlieb, Y., Rogers, T., Pavlovsky, M., Goldberg, I. & 9 others, Shomron, N., Sandilands, A., Campbell, L. E., MacCallum, S., McLean, W. H. I., Ast, G., Gallo, R. L., Uitto, J. & Sprecher, E., Feb 2017, In : Journal of Investigative Dermatology. 137, 2, p. 385-393 9 p.

Research output: Contribution to journalArticle

Open Access
File
5 Citations (Scopus)
139 Downloads (Pure)

Clumping factor B promotes adherence of Staphylococcus aureus to corneocytes in atopic dermatitis

Fleury, O. M., McAleer, M. A., Feuillie, C., Formosa-Dague, C., Sansevere, E., Bennett, D. E., Towell, A. M., McLean, W. H. I., Kezic, S., Robinson, D. A., Fallon, P. G., Foster, T. J., Dufrêne, Y. F., Irvine, A. D. & Geoghegan, J. A., Jun 2017, In : Infection and Immunity. 85, 6, p. 1-12 12 p., e00994-16.

Research output: Contribution to journalArticle

Open Access
File
29 Citations (Scopus)
121 Downloads (Pure)

Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism

Smith, F. J. D. & McLean, W. H. I., 3 Dec 2017, In : Journal of Dermatology. 44, 12, p. e312 1 p.

Research output: Contribution to journalLetter

Open Access
File
1 Citation (Scopus)
129 Downloads (Pure)

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23

Lee, J. Y. W., Hsu, C-K., Michael, M., Nanda, A., Liu, L., McMillan, J. R., Pourreyron, C., Takeichi, T., Tolar, J., Reid, E., Hayday, T., Blumen, S. C., Abu-Mouch, S., Straussberg, R., Basel-Vanagaite, L., Barhum, Y., Zouabi, Y., Al-Ajmi, H., Huang, H-Y., Lin, T-C. & 6 others, Akiyama, M., Lee, J. Y. Y., McLean, W. H. I., Simpson, M. A., Parsons, M. & McGrath, J. A., 2 Feb 2017, In : American Journal of Human Genetics. 100, 2, p. 364-370 7 p.

Research output: Contribution to journalArticle

Open Access
File
12 Citations (Scopus)
117 Downloads (Pure)

Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease

Wilson, N. J., Cole, C., Kroboth, K., Hunter, W. N., Mann, J. A., Irwin McLean, W. H., Kernland Lang, K., Beltraminelli, H., Sabroe, R. A., Tiffin, N., Sobey, G. J., Borradori, L., Simpson, E. & Smith, F. J. D., Jan 2017, In : British Journal of Dermatology. 176, 1, p. 270-274 5 p.

Research output: Contribution to journalLetter

Open Access
File
7 Citations (Scopus)
85 Downloads (Pure)

Skin microbiome prior to development of atopic dermatitis: early colonization with commensal staphylococci at 2 months is associated with a lower risk of atopic dermatitis at 1 year

Kennedy, E. A., Connolly, J., O.'B. Hourihane, J., Fallon, P. G., McLean, W. H. I., Murray, D., Jo, J-H., Segre, J. A., Kong, H. H. & Irvine, A. D., Jan 2017, In : Journal of Allergy and Clinical Immunology. 139, 1, p. 1-7 7 p., 166-172.

Research output: Contribution to journalArticle

Open Access
File
102 Citations (Scopus)
117 Downloads (Pure)
2016

Association between domestic water hardness, chlorine, and atopic dermatitis risk in early life: A population-based cross-sectional study

Perkin, M. R., Craven, J., Logan, K., Strachan, D., Marrs, T., Radulovic, S., Campbell, L. E., MacCallum, S. F., McLean, W. H. I., Lack, G. & Flohr, C., Aug 2016, In : Journal of Allergy and Clinical Immunology. 138, 2, p. 509-516 8 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)

Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis

Sekiya, A., Kono, M., Tsujiuchi, H., Kobayashi, T., Nomura, T., Kitakawa, M., Suzuki, N., Yamanaka, K., Sueki, H., McLean, W. H. I., Shimizu, H. & Akiyama, M., 20 Dec 2016, In : Journal of the European Academy of Dermatology and Venereology. 31, 1, p. 158-162 5 p.

Research output: Contribution to journalArticle

Open Access
7 Citations (Scopus)

CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting

Courtney, D. G., Moore, J. E., Atkinson, S. D., Maurizi, E., Allen, E. H. A., Leslie Pedrioli, D. M. L., Mclean, W. H. I., Nesbit, M. A. & Moore, C. B. T., 2016, In : Gene Therapy. 23, 1, p. 108-112

Research output: Contribution to journalArticle

Open Access
File
49 Citations (Scopus)
124 Downloads (Pure)

Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond

McLean, W., 26 Sep 2016, In : British Journal of Dermatology. 175, 52, p. 4-7 4 p.

Research output: Contribution to journalReview article

Open Access
File
27 Citations (Scopus)
169 Downloads (Pure)

Filaggrin genotype does not determine the skin's threshold to UV-induced erythema

Forbes, D., Johnston, L., Gardner, J., MacCallum, S. F., Campbell, L. E., Dinkova-Kostova, A. T., McLean, W. H. I., Ibbotson, S. H., Dawe, R. S. & Brown, S. J., Apr 2016, In : Journal of Allergy and Clinical Immunology. 137, 4, p. 1280-1282.e3 6 p.

Research output: Contribution to journalLetter

Open Access
File
6 Citations (Scopus)
101 Downloads (Pure)

Filaggrin-null mutations are associated with increased maturation markers on Langerhans cells

Leitch, C. S., Natafji, E., Yu, C., Abdul-Ghaffar, S., Madarasingha, N., Venables, Z. C., Chu, R., Fitch, P. M., Muinonen-Martin, A. J., Campbell, L. E., McLean, W. H. I., Schwarze, J., Howie, S. E. M. & Weller, R. B., Aug 2016, In : Journal of Allergy and Clinical Immunology. 138, 2, p. 482-490.e7 16 p.

Research output: Contribution to journalArticle

Open Access
File
11 Citations (Scopus)
126 Downloads (Pure)

Keratin 12 missense mutation induces the unfolded protein response and apoptosis in meesmann epithelial corneal dystrophy

Allen, E. H. A., Courtney, D. G., Atkinson, S. D., Moore, J. E., Mairs, L., Poulsen, E. T., Schiroli, D., Maurizi, E., Cole, C., Hickerson, R. P., James, J., Murgatroyd, H., Smith, F. J. D., MacEwen, C., Enghild, J. J., Nesbit, M. A., Leslie Pedrioli, D. M., McLean, W. H. I. & Moore, C. B. T., 15 Mar 2016, In : Human Molecular Genetics. 25, 6, p. 1176-1191 16 p., ddw001.

Research output: Contribution to journalArticle

Open Access
File
4 Citations (Scopus)
126 Downloads (Pure)

Skin barrier impairment at birth predicts food allergy at 2 years of age

Kelleher, M. M., Dunn-Galvin, A., Gray, C., Murray, D. M., Kiely, M., Kenny, L., McLean, W. H. I., Irvine, A. D. & Hourihane, J. OB., Apr 2016, In : Journal of Allergy and Clinical Immunology. 137, 4, p. 1111-1116.e1-8 14 p.

Research output: Contribution to journalArticle

90 Citations (Scopus)

Too much, too little or just enough: a Goldilocks effect for IL-13 and skin barrier regulation?

Strid, J., McLean, W. H. I. & Irvine, A. D., Mar 2016, In : Journal of Investigative Dermatology. 136, 3, p. 561-564 4 p.

Research output: Contribution to journalComment/debate

3 Citations (Scopus)
2015

Atopic dermatitis increases the effect of exposure to peanut antigen in dust on peanut sensitization and likely peanut allergy

Brough, H. A., Liu, A. H., Sicherer, S., Makinson, K., Douiri, A., Brown, S. J., Stephens, A. C., McLean, W. H. I., Turcanu, V., Wood, R. A., Jones, S. M., Burks, W., Dawson, P., Stablein, D., Sampson, H. & Lack, G., Jan 2015, In : Journal of Allergy and Clinical Immunology. 135, 1, p. 164-170.e4 11 p.

Research output: Contribution to journalArticle

Open Access
File
148 Citations (Scopus)
291 Downloads (Pure)

Atopic dermatitis is associated with an increased risk for rheumatoid arthritis and inflammatory bowel disease, and a decreased risk for type 1 diabetes

Schmitt, J., Schwarz, K., Baurecht, H., Hotze, M., Fölster-Holst, R., Rodríguez, E., Lee, Y. A. E., Franke, A., Degenhardt, F., Lieb, W., Gieger, C., Kabesch, M., Nöthen, M. M., Irvine, A. D., McLean, W. H. I., Deckert, S., Stephan, V., Schwarz, P., Aringer, M., Novak, N. & 1 others, Weidinger, S., Dec 2015, In : Journal of Allergy and Clinical Immunology. 137, 1, p. 130-136 7 p.

Research output: Contribution to journalArticle

69 Citations (Scopus)

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Mercier, S., Küry, S., Salort-Campana, E., Magot, A., Agbim, U., Besnard, T., Bodak, N., Bou-Hanna, C., Bréhéret, F., Brunelle, P., Caillon, F., Chabrol, B., Cormier-Daire, V., David, A., Eymard, B., Faivre, L., Figarella-Branger, D., Fleurence, E., Ganapathi, M., Gherardi, R. & 34 others, Goldenberg, A., Hamel, A., Igual, J., Irvine, A. D., Israël-Biet, D., Kannengiesser, C., Laboisse, C., Le Caignec, C., Mahé, J. Y., Mallet, S., MacGowan, S., McAleer, M. A., McLean, I., Méni, C., Munnich, A., Mussini, J. M., Nagy, P. L., Odel, J., O'Regan, G. M., Péréon, Y., Perrier, J., Piard, J., Puzenat, E., Sampson, J. B., Smith, F., Soufir, N., Tanji, K., Thauvin, C., Ulane, C., Watson, R. M., Khumalo, N. P., Mayosi, B. M., Barbarot, S. & Bézieau, S., 15 Oct 2015, In : Orphanet Journal of Rare Diseases. 10, 16 p., 135.

Research output: Contribution to journalArticle

Open Access
File
9 Citations (Scopus)
134 Downloads (Pure)

Expanding the phenotypic spectrum of Olmsted syndrome

Wilson, N. J., Cole, C., Milstone, L. M., Kiszewski, A. E., Hansen, C. D., O'Toole, E. A., Schwartz, M. E., McLean, W. H. I. & Smith, F. J. D., Nov 2015, In : Journal of Investigative Dermatology. 135, 11, p. 2879-2883 5 p.

Research output: Contribution to journalLetter

11 Citations (Scopus)

Filaggrin breakdown products determine corneocyte conformation in patients with atopic dermatitis

Riethmuller, C., McAleer, M. A., Koppes, S. A., Abdayem, R., Franz, J., Haftek, M., Campbell, L. E., MacCallum, S. F., McLean, W. H. I., Irvine, A. D. & Kezic, S., Dec 2015, In : Journal of Allergy and Clinical Immunology. 136, 6, p. 1573-1580.e2 10 p.

Research output: Contribution to journalArticle

41 Citations (Scopus)

Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms

Baurecht, H., Hotze, M., Brand, S., Büning, C., Cormican, P., Corvin, A., Ellinghaus, D., Ellinghaus, E., Esparza-Gordillo, J., Fölster-Holst, R., Franke, A., Gieger, C., Hubner, N., Illig, T., Irvine, A. D., Kabesch, M., Lee, Y. A. E., Lieb, W., Marenholz, I., McLean, W. H. I. & 19 others, Morris, D. W., Mrowietz, U., Nair, R., Nöthen, M. M., Novak, N., O'Regan, G. M., PAGE Consortium, Schreiber, S., Smith, C., Strauch, K., Stuart, P. E., Trembath, R., Tsoi, L. C., Weichenthal, M., Barker, J., Elder, J. T., Weidinger, S., Cordell, H. J. & Brown, S. J., 8 Jan 2015, In : American Journal of Human Genetics. 96, 1, p. 104-120 17 p.

Research output: Contribution to journalArticle

60 Citations (Scopus)

Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads

Lin, Z., Zhao, J., Nitoiu, D., Scott, C. A., Plagnol, V., Smith, F. J. D., Wilson, N. J., Cole, C., Schwartz, M. E., McLean, W. H. I., Wang, H., Feng, C., Duo, L., Zhou, E. Y., Ren, Y., Dai, L., Chen, Y., Zhang, J., Xu, X., O'Toole, E. A. & 2 others, Kelsell, D. P. & Yang, Y., 5 Mar 2015, In : American Journal of Human Genetics. 96, 3, p. 440-447 8 p.

Research output: Contribution to journalArticle

13 Citations (Scopus)

Loss-of-function mutations in the gene encoding filaggrin are not strongly associated with chronic actinic dermatitis

Harkins, C. P., Waters, A., Kerr, A., Campbell, L., McLean, W. H. I., Brown, S. J. & Ibbotson, S. H., Jul 2015, In : Journal of Investigative Dermatology. 135, 7, p. 1919-1921 3 p.

Research output: Contribution to journalLetter

1 Citation (Scopus)

Loss-of-function mutations in the gene encoding filaggrin underlie a Japanese family with food-dependent exercise-induced anaphylaxis

Mizuno, O., Nomura, T., Ohguchi, Y., Suzuki, S., Nomura, Y., Hamade, Y., Hoshina, D., Sandilands, A., Akiyama, M., McLean, W. H. I., Abe, R. & Shimizu, H., Apr 2015, In : Journal of the European Academy of Dermatology and Venereology. 29, 4, p. 805-808 4 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Lysyl hydroxylase 3 localizes to epidermal basement membrane and Is reduced in patients with Recessive Dystrophic Epidermolysis Bullosa

Watt, S. A., Dayal, J. H. S., Wright, S., Riddle, M., Pourreyron, C., McMillan, J. R., Kimble, R. M., Prisco, M., Gartner, U., Warbrick, E., McLean, W. H. I., Leigh, I. M., McGrath, J. A., Salas-Alanis, J. C., Tolar, J. & South, A. P., 18 Sep 2015, In : PLoS ONE. 10, 9, 15 p., e0137639.

Research output: Contribution to journalArticle

Open Access
File
12 Citations (Scopus)
165 Downloads (Pure)

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Paternoster, L., Standl, M., Waage, J., Baurecht, H., Hotze, M., Strachan, D. P., Curtin, J. A., Bønnelykke, K., Tian, C., Takahashi, A., Esparza-Gordillo, J., Alves, A. C., Thyssen, J. P., Den Dekker, H. T., Ferreira, M. A., Altmaier, E., Sleiman, P. M. A., Xiao, F. L., Gonzalez, J. R., Marenholz, I. & 130 others, Kalb, B., Pino-Yanes, M., Xu, C. J., Carstensen, L., Groen-Blokhuis, M. M., Venturini, C., Pennell, C. E., Barton, S. J., Levin, A. M., Curjuric, I., Bustamante, M., Kreiner-Møller, E., Lockett, G. A., Bacelis, J., Bunyavanich, S., Myers, R. A., Matanovic, A., Kumar, A., Tung, J. Y., Hirota, T., Kubo, M., McArdle, W. L., Henderson, A. J., Kemp, J. P., Zheng, J., Smith, G. D., Rüschendorf, F., Bauerfeind, A., Lee-Kirsch, M. A., Arnold, A., Homuth, G., Schmidt, C. O., Mangold, E., Cichon, S., Keil, T., Rodríguez, E., Peters, A., Franke, A., Lieb, W., Novak, N., Fölster-Holst, R., Horikoshi, M., Pekkanen, J., Sebert, S., Husemoen, L. L., Grarup, N., De Jongste, J. C., Rivadeneira, F., Hofman, A., Jaddoe, V. W. V., Pasmans, S. G. M. A., Elbert, N. J., Uitterlinden, A. G., Marks, G. B., Thompson, P. J., Matheson, M. C., Robertson, C. F., Ried, J. S., Li, J., Zuo, X. B., Zheng, X. D., Yin, X. Y., Sun, L. D., McAleer, M. A., O'Regan, G. M., Fahy, C. M. R., Campbell, L. E., Macek, M., Kurek, M., Hu, D., Eng, C., Postma, D. S., Feenstra, B., Geller, F., Hottenga, J. J., Middeldorp, C. M., Hysi, P., Bataille, V., Spector, T., Tiesler, C. M. T., Thiering, E., Pahukasahasram, B., Yang, J. J., Imboden, M., Huntsman, S., Vilor-Tejedor, N., Relton, C. L., Myhre, R., Nystad, W., Custovic, A., Weiss, S. T., Meyers, D. A., Söderhäll, C., Melén, E., Ober, C., Raby, B. A., Simpson, A., Jacobsson, B., Holloway, J. W., Bisgaard, H., Sunyer, J., Probst-Hensch, N. M., Williams, L. K., Godfrey, K. M., Wang, C. A., Boomsma, D. I., Melbye, M., Koppelman, G. H., Jarvis, D., McLean, W. H. I., Irvine, A. D., Zhang, X. J., Hakonarson, H., Gieger, C., Burchard, E. G., Martin, N. G., Duijts, L., Linneberg, A., Jarvelin, M. R., Nöthen, M. M., Lau, S., Hübner, N., Lee, Y. A., Tamari, M., Hinds, D. A., Glass, D., Brown, S. J., Heinrich, J., Evans, D. M. & Weidinger, S., Dec 2015, In : Nature Genetics. 47, 12, p. 1449-1456 8 p.

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185 Citations (Scopus)

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

Pohler, E., Cunningham, F., Sandilands, A., Cole, C., Digby, S., McMillan, J. R., Aristodemou, S., McGrath, J. A., Smith, F. J. D., Mclean, W. H. I., Munro, C. S. & Zamiri, M., 26 Nov 2015, In : British Journal of Dermatology. 173, 5, p. 1292-1294 4 p.

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Novel TGM5 mutations in acral peeling skin syndrome

van der Velden, J. . J. A. J., van Geel, M., Nellen, R. G. L., Jonkman, M. F., McGrath, J. A., Nanda, A., Sprecher, E., van Steensel, M. A. M., Mclean, W. H. I. & Cassidy, A. J., Apr 2015, In : Experimental Dermatology. 24, 4, p. 285-289 5 p.

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6 Citations (Scopus)

PCQoL: a quality of life assessment measure for Pachyonychia congenita

Abbas, M., Schwartz, M. E., Smith, F. J. D., McLean, W. H. I. & Hull, P. R., 2015, In : Journal of Cutaneous Medicine and Surgery. 19, 1, p. 57-65 9 p.

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2 Citations (Scopus)

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin

McAleer, M. A., Pohler, E., Smith, F. J. D., Wilson, N. J., Cole, C., MacGowan, S., Koetsier, J. L., Godsel, L. M., Harmon, R. M., Gruber, R., Crumrine, D., Elias, P. M., McDermott, M., Butler, K., Broderick, A., Sarig, O., Sprecher, E., Green, K. J., McLean, W. H. I. & Irvine, A. D., Nov 2015, In : Journal of Allergy and Clinical Immunology. 136, 5, p. 1268-1276 9 p.

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56 Citations (Scopus)