Keratins and skin disease von Knöbel, Maria, O’Toole, Edel A, Smith, Frances J. D

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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema von van Steensel, Maurice A M, Hull, Peter R, Palmer, Colin N A, Clayton, Timothy H, Sandilands, Aileen, Evans, Alan T, Bradley, Daniel G, Nagtzaam, Ivo, Campbell, Linda E, Terron-Kwiatkowski, Ana, Carrick, Thomas, Irvine, Alan D, Liao, Haihui, O'Regan, Gráinne M, Steijlen, Peter M, Gruber, Robert, Watson, Rosemarie M, Elias, Peter M, Schmuth, Matthias, McLean, W H Irwin, van Geel, Michel, Munro, Colin S, Smith, Frances J D, Zhao, Yiwei, Janecke, Andreas R

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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma von Pohler, Elizabeth, Mamai, Ons, Hirst, Jennifer, Zamiri, Mozheh, Horn, Helen, Nomura, Toshifumi, Irvine, Alan D, Moran, Benvon, Wilson, Neil J, Smith, Frances J D, Goh, Christabelle S M, Sandilands, Aileen, Cole, Christian, Barton, Geoffrey J, Evans, Alan T, Shimizu, Hiroshi, Akiyama, Masashi, Suehiro, Mitsuhiro, Konohana, Izumi, Shboul, Mohammad, Teissier, Sebastien, Boussofara, Lobna, Denguezli, Mohamed, Saad, Ali, Gribaa, Moez, Dopping-Hepenstal, Patricia J, McGrath, John A, Brown, Sara J, Goudie, David R, Reversade, Bruno, Munro, Colin S, McLean, W H Irwin

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Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy von Liao, Haihui, Irvine, Alan D, Macewen, Caroline J, Weed, Kathryn H, Porter, Louise, Corden, Laura D, Gibson, A Bethany, Moore, Jonathan E, Smith, Frances J D, McLean, W H Irwin, Moore, C B Tara

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Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis von Nomura, Toshifumi, MD, Sandilands, Aileen, PhD, Akiyama, Masashi, MD, PhD, Liao, Haihui, MD, Evans, Alan T., MD, Sakai, Kaori, Ota, Mitsuhito, MD, PhD, Sugiura, Hisashi, MD, PhD, Yamamoto, Kazuo, MD, PhD, Sato, Hiroshi, MD, PhD, Palmer, Colin N.A., PhD, Smith, Frances J.D., PhD, McLean, W.H. Irwin, PhD, DSc, FRSE, Shimizu, Hiroshi, PhD

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Filaggrin null mutations are associated with increased asthma severity in children and young adults von Palmer, Colin N.A., PhD, Ismail, Tahmina, MBBS, MSc, Lee, Simon P., MSc, Terron-Kwiatkowski, Ana, PhD, Zhao, Yiwei, MD, Liao, Haihui, MD, Smith, Frances J.D., PhD, McLean, W.H. Irwin, PhD, DSc, FRSE, Mukhopadhyay, Somnath, FRCPCH, PhD

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Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin von McAleer, Maeve A., MB, MRCP, Pohler, Elizabeth, PhD, Smith, Frances J.D., PhD, Wilson, Neil J., MSc, Cole, Christian, PhD, MacGowan, Stuart, PhD, Koetsier, Jennifer L., BS, Godsel, Lisa M., PhD, Harmon, Robert M., PhD, Gruber, Robert, MD, Crumrine, Debra, BS, Elias, Peter M., MD, McDermott, Michael, FRCPath, Butler, Karina, FRCPI, Broderick, Annemarie, MRCPI, Sarig, Ofer, PhD, Sprecher, Eli, MD, PhD, Green, Kathleen J., PhD, McLean, W.H. Irwin, PhD, DSc, FRS, FRSE, FMedSci, Irvine, Alan D., MD

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris von McLean, W H Irwin, Smith, Frances J D, Irvine, Alan D, Terron-Kwiatkowski, Ana, Sandilands, Aileen, Campbell, Linda E, Zhao, Yiwei, Liao, Haihui, Evans, Alan T, Goudie, David R, Lewis-Jones, Sue, Arseculeratne, Gehan, Munro, Colin S, Sergeant, Ann, O'Regan, Gráinne, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Presland, Richard B, Fleckman, Philip

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The Phenotypic and Molecular Genetic Features of Pachyonychia Congenita von McLean, W.H. Irwin, Hansen, C. David, Eliason, Mark J., Smith, Frances J.D.

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Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis von Sandilands, Aileen, O'Regan, Gráinne M., Liao, Haihui, Zhao, Yiwei, Terron-Kwiatkowski, Ana, Watson, Rosemarie M., Cassidy, Andrew J., Goudie, David R., Smith, Frances J.D., Irwin McLean, W.H., Irvine, Alan D.

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Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants von Wong, X.F. Colin C., Denil, Simon L.I.J., Foo, Jia Nee, Chen, Huijia, Tay, Angeline Su Ling, Haines, Rebecca L., Tang, Mark B.Y., McLean, W.H. Irwin, Sandilands, Aileen, Smith, Frances J.D., Lane, E. Birgitte, Liu, Jianjun, Common, John E.A.

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Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view von Cogulu, Ozgur, Onay, Huseyin, Aykut, Ayca, Wilson, Neil J., Smith, Frances J. D., Dereli, Tugrul, Ozkinay, Ferda

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Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex von Atkinson, Sarah D., McGilligan, Victoria E., Liao, Haihui, Szeverenyi, Ildiko, Smith, Frances J.D., Tara Moore, C.B., Irwin McLean, W.H.

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First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder von Leachman, Sancy A, Hickerson, Robyn P, Schwartz, Mary E, Bullough, Emily E, Hutcherson, Stephen L, Boucher, Kenneth M, Hansen, C David, Eliason, Mark J, Srivatsa, G Susan, Kornbrust, Douglas J, Smith, Frances JD, McLean, WH Irwin, Milstone, Leonard M, Kaspar, Roger L

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Statins Downregulate K6a Promoter Activity: A Possible Therapeutic Avenue for Pachyonychia Congenita von Zhao, Yiwei, Gartner, Ulrike, Smith, Frances J.D., McLean, W.H. Irwin

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In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation von Hegde, Vikas, Hickerson, Robyn P., Nainamalai, Sitheswaran, Campbell, Paul A., Smith, Frances J.D., McLean, W.H. Irwin, Leslie Pedrioli, Deena M.

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A Large Mutational Study in Pachyonychia Congenita von Wilson, Neil J., Leachman, Sancy A., Hansen, C. David, McMullan, Alexandra C., Milstone, Leonard M., Schwartz, Mary E., McLean, W.H. Irwin, Hull, Peter R., Smith, Frances J.D.

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Generation and characterisation of keratin 7 (K7) knockout mice von Sandilands, Aileen, Smith, Frances J D, Lunny, Declan P, Campbell, Linda E, Davidson, Kirsty M, MacCallum, Stephanie F, Corden, Laura D, Christie, Lesley, Fleming, Stewart, Lane, E Birgitte, McLean, W H Irwin

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Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder von Leslie Pedrioli, Deena M., Fu, Dun Jack, Gonzalez-Gonzalez, Emilio, Contag, Christopher H., Kaspar, Roger L., Smith, Frances J.D., Irwin McLean, W.H.

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Single-Nucleotide-Specific siRNA Targeting in a Dominant-Negative Skin Model von Hickerson, Robyn P., Smith, Frances J.D., Reeves, Robert E., Contag, Christopher H., Leake, Devin, Leachman, Sancy A., Milstone, Leonard M., Irwin McLean, W.H., Kaspar, Roger L.

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