Filaggrin failure - from ichthyosis vulgaris to atopic eczema and beyond von McLean, W.H.I.

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The molecular genetic analysis of the expanding pachyonychia congenita case collection von Wilson, N.J., O'Toole, E.A., Milstone, L.M., Hansen, C.D., Shepherd, A.A., Al-Asadi, E., Schwartz, M.E., McLean, W.H.I., Sprecher, E., Smith, F.J.D.

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

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Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis von 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.

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A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome von van der Velden, J.J.A.J, Jonkman, M.F, McLean, W.H.I, Hamm, H, Steijlen, P.M, van Steensel, M.A.M, van Geel, M

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Systemic and stratum corneum biomarkers of severity in infant atopic dermatitis include markers of innate and T helper cell‐related immunity and angiogenesis von McAleer, M.A., Jakasa, I., Hurault, G., Sarvari, P., McLean, W.H.I., Tanaka, R.J., Kezic, S., Irvine, A.D.

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa von Leigh, I.M, Bryant, S.P, Milana, G, Kirtschig, G, Pulkkinen, L, Smith, F.J.D, McLean, W.H.I, Eady, R.A.J, Spurr, N.K, Owaribe, K, McMillan, J.R, Lane, E.B, Geddes, J.F, de Bono, A.G, Uitto, J, Wiche, G, Kelsell, D.P, Rugg, E.L

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A minimally invasive tool to study immune response and skin barrier in children with atopic dermatitis von Hulshof, L., Hack, D.P., Hasnoe, Q.C.J., Dontje, B., Jakasa, I., Riethmüller, C., McLean, W.H.I., Aalderen, W.M.C., van't Land, B., Kezic, S., Sprikkelman, A.B., Middelkamp‐Hup, M.A.

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Filaggrin loss-of-function mutations are associated with early-onset eczema, eczema severity and transepidermal water loss at 3 months of age von Flohr, C., England, K., Radulovic, S., McLean, W.H.I., Campbell, L.E., Barker, J., Perkin, M., Lack, G.

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CRISPR/Cas9 DNA cleavage at SNP-derived PAM enables both in vitro and in vivo KRT12 mutation-specific targeting von Courtney, D G, Moore, J E, Atkinson, S D, Maurizi, E, Allen, E H A, Pedrioli, D M L, McLean, W H I, Nesbit, M A, Moore, C B T

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Early‐life regional and temporal variation in filaggrin‐derived natural moisturizing factor, filaggrin‐processing enzyme activity, corneocyte phenotypes and plasmin activity: impli... von McAleer, M.A., Jakasa, I., Raj, N., O'Donnell, C.P.F., Lane, M.E., Rawlings, A.V., Voegeli, R., McLean, W.H.I., Kezic, S., Irvine, A.D.

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita von McLean, W.H.I, Rugg, E.L, Lunny, D.P, Morley, S.M, Lane, E.B, Swensson, O, Dopping-Hepenstal, P.J.C, Griffiths, W.A.D, Eady, R.A.J, Higgins, C, Navsaria, H.A, Leigh, I.M, Strachan, T, Kunkeler, L, Munro, C.S

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婴儿 AD 中的角质层和系统生物标志物 von McAleer, M.A., Jakasa, I., Hurault, G., Sarvari, P., McLean, W.H.I., Tanaka, R.J., Kezic, S., Irvine, A.D.

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

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Impact of atopic dermatitis and loss-of-function mutations in the filaggrin gene on the development of occupational irritant contact dermatitis von Visser, M.J., Landeck, L., Campbell, L.E., McLean, W.H.I., Weidinger, S., Calkoen, F., John, S.M., Kezic, S.

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Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory von Takeichi, T., Liu, L., Fong, K., Ozoemena, L., McMillan, J.R., Salam, A., Campbell, P., Akiyama, M., Mellerio, J.E., McLean, W.H.I., Simpson, M.A., McGrath, J.A.

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A Novel Mutation in the Keratin 13 Gene Causing Oral White Sponge Nevus von Terrinoni, A., Rugg, E.L., Lane, E.B., Melino, G., Felix, D.H., Munro, C.S., McLean, W.H.I.

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Novel filaggrin mutation but no other loss-of-function variants found in Ethiopian patients with atopic dermatitis von Winge, M.C.G., Bilcha, K.D., Liedén, A., Shibeshi, D., Sandilands, A., Wahlgren, C.-F., McLean, W.H.I., Nordenskjöld, M., Bradley, M.

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浅色和深色型皮肤 AD 儿童中的皮肤胶带黏贴 von Hulshof, L., Hack, D.P., Hasnoe, Q.C.J., Dontje, B., Jakasa, I., Riethm€uller, C., McLean, W.H.I., Aalderen, W.M.C., Land, B., Kezic, S., Sprikkelman, A.B., Middelkamp‐Hup, M.A.

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Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations von Chen, H., Common, J.E.A., Haines, R.L., Balakrishnan, A., Brown, S.J., Goh, C.S.M., Cordell, H.J., Sandilands, A., Campbell, L.E., Kroboth, K., Irvine, A.D., Goh, D.L.M., Tang, M.B.Y., van Bever, H.P., Giam, Y.C., McLean, W.H.I., Lane, E.B.

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