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Select record 21
ArticlesPeer ReviewedFull Text
Filaggrin Mutations Are Genetic Modifying Factors Exacerbating X-Linked Ichthyosis
Author / Creator:Liao, Haihui ; Waters, Alex J. ; Goudie, David R. ; Aitken, David A. ; Graham, Gordon ; Smith, Frances J.D. ; Lewis-Jones, Sue ; Irwin McLean, W.H.
Publisher:Danvers, MA: Elsevier Inc
Journal title:Journal of investigative dermatology, 2007-12, Vol.127 (12), p.2795-2798
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The Genetic Basis of Pachyonychia Congenita
Author / Creator:Smith, Frances J.D. ; Liao, Haihui ; Cassidy, Andrew J. ; Stewart, Arlene ; Hamill, Kevin J. ; Wood, Pamela ; Joval, Iris ; van Steensel, Maurice A.M. ; Björck, Erik ; Callif-Daley, Faith ; Pals, Gerald ; Collins, Paul ; Leachman, Sancy A. ; Munro, Colin S. ; McLean, W. H. Irwin
Publisher:United States: Elsevier Inc
Journal title:The Journal of investigative dermatology symposium proceedings, 2005-10, Vol.10 (1), p.21-30
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A Novel Connexin 30 Mutation in Clouston Syndrome
Author / Creator:Smith, Frances J.D. ; Irwin McLean, W.H. ; Morley, Susan M.
Publisher:Danvers, MA: Elsevier Inc
Journal title:Journal of investigative dermatology, 2002-03, Vol.118 (3), p.530-532
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Novel Mechanism of Revertant Mosaicism in Dowling–Meara Epidermolysis Bullosa Simplex
Author / Creator:Smith, Frances J.D. ; Irwin McLean, W.H. ; Morley, Susan M.
Publisher:Danvers, MA: Elsevier Inc
Journal title:Journal of investigative dermatology, 2004-01, Vol.122 (1), p.73-77
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Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly
Author / Creator:Sergeant, Ann ; Campbell, Linda E. ; Hull, Peter R. ; Porter, Martin ; Palmer, Colin N.A. ; Smith, Frances J.D. ; McLean, W H Irwin ; Munro, Colin S.
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2009-04, Vol.129 (4), p.1042-1045
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Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita
Author / Creator:Terrinoni, Alessandro ; Smith, Frances J.D. ; Didona, Biagio ; Canzona, Flora ; Paradisi, Mauro ; Huber, Marcel ; Hohl, Daniel ; David, Albert ; Verloes, Alain ; Leigh, Irene M. ; Munro, Colin S. ; Melino, Gerry ; McLean, W.H. Irwin
Publisher:Danvers, MA: Elsevier Inc
Journal title:Journal of investigative dermatology, 2001-12, Vol.117 (6), p.1391-1396
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Keratins and skin disease
Author / Creator:Knöbel, Maria ; O’Toole, Edel A ; Smith, Frances J. D
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Cell and tissue research, 2015-06, Vol.360 (3), p.583-589
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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis
Author / Creator:Palmer, Colin N A ; Irvine, Alan D ; Terron-Kwiatkowski, Ana ; Zhao, Yiwei ; Liao, Haihui ; Lee, Simon P ; Goudie, David R ; Sandilands, Aileen ; Campbell, Linda E ; Smith, Frances J D ; O'Regan, Gráinne M ; Watson, Rosemarie M ; Cecil, Jo E ; Bale, Sherri J ; Compton, John G ; DiGiovanna, John J ; Fleckman, Philip ; Lewis-Jones, Sue ; Arseculeratne, Gehan ; Sergeant, Ann ; Munro, Colin S ; El Houate, Brahim ; McElreavey, Ken ; Halkjaer, Liselotte B ; Bisgaard, Hans ; Mukhopadhyay, Somnath ; McLean, W H Irwin
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2006-04, Vol.38 (4), p.441-446
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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
Author / Creator: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 ; McLean, W H Irwin
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2006-03, Vol.38 (3), p.337-342
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Select record 30
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First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder
Author / Creator: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
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy, 2010-02, Vol.18 (2), p.442-446
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Filaggrin's Fuller Figure: A Glimpse into the Genetic Architecture of Atopic Dermatitis
Author / Creator:Sandilands, Aileen ; Smith, Frances J.D. ; Irvine, Alan D. ; Irwin McLean, W.H.
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2007-06, Vol.127 (6), p.1282-1284
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Select record 32
ArticlesPeer ReviewedFull Text
Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex
Author / Creator:Atkinson, Sarah D. ; McGilligan, Victoria E. ; Liao, Haihui ; Szeverenyi, Ildiko ; Smith, Frances J.D. ; Tara Moore, C.B. ; Irwin McLean, W.H.
Publisher:New York, NY: Elsevier Inc
Journal title:Journal of investigative dermatology, 2011-10, Vol.131 (10), p.2079-2086
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Select record 33
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A Large Mutational Study in Pachyonychia Congenita
Author / Creator: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.
Publisher:New York, NY: Elsevier Inc
Journal title:Journal of investigative dermatology, 2011-05, Vol.131 (5), p.1018-1024
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Select record 34
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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2012-11, Vol.44 (11), p.1272-1276
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Select record 35
ArticlesPeer ReviewedFull Text
Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder
Author / Creator:Leslie Pedrioli, Deena M. ; Fu, Dun Jack ; Gonzalez-Gonzalez, Emilio ; Contag, Christopher H. ; Kaspar, Roger L. ; Smith, Frances J.D. ; Irwin McLean, W.H.
Publisher:New York, NY: Elsevier Inc
Journal title:Journal of investigative dermatology, 2012-06, Vol.132 (6), p.1627-1635
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Select record 36
ArticlesPeer ReviewedFull Text
Single-Nucleotide-Specific siRNA Targeting in a Dominant-Negative Skin Model
Author / Creator: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.
Publisher:Danvers, MA: Elsevier Inc
Journal title:Journal of investigative dermatology, 2008-03, Vol.128 (3), p.594-605
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Select record 37
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Generation and Characterisation of Keratin 7 (K7) Knockout Mice
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2013-05, Vol.8 (5), p.e64404-e64404
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Select record 38
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Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations
Author / Creator:Fu, Teresa ; Leachman, Sancy A. ; Wilson, Neil J. ; Smith, Frances J.D. ; Schwartz, Mary E. ; Tang, Jean Y.
Publisher:New York, NY: Elsevier Inc
Journal title:Journal of investigative dermatology, 2011-05, Vol.131 (5), p.1025-1028
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Select record 39
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PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease
Author / Creator:Peter, Dincy ; Smith, Frances ; Wilson, Neil ; Danda, Sumita
Publisher:India: Wolters Kluwer India Pvt. Ltd
Journal title:Indian Dermatology Online Journal, 2021-01, Vol.12 (1), p.147-149
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Select record 40
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Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling
Author / Creator:Pöhler, Elizabeth ; Zamiri, Mozheh ; Harkins, Catriona P. ; Salas-Alanis, Julio C. ; Perkins, William ; Smith, Frances J.D. ; Irwin McLean, W.H. ; Brown, Sara J.
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2013-12, Vol.133 (12), p.2805-2808
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Showing 21 to 40 of 62 results

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Filaggrin Mutations Are Genetic Modifying Factors Exacerbating X-Linked Ichthyosis

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The Genetic Basis of Pachyonychia Congenita

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A Novel Connexin 30 Mutation in Clouston Syndrome

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Novel Mechanism of Revertant Mosaicism in Dowling–Meara Epidermolysis Bullosa Simplex

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Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly

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Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita

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Keratins and skin disease

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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

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First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder

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Filaggrin's Fuller Figure: A Glimpse into the Genetic Architecture of Atopic Dermatitis

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Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex

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A Large Mutational Study in Pachyonychia Congenita

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Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

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Generic and Personalized RNAi-Based Therapeutics for a Dominant-Negative Epidermal Fragility Disorder

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Single-Nucleotide-Specific siRNA Targeting in a Dominant-Negative Skin Model

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Generation and Characterisation of Keratin 7 (K7) Knockout Mice

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Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations

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PSENEN mutation in coexistent hidradenitis suppurativa and dowling-degos disease

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Heterozygous Mutations in AAGAB Cause Type 1 Punctate Palmoplantar Keratoderma with Evidence for Increased Growth Factor Signaling

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