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Select record 41
ArticlesPeer ReviewedFull Text
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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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 43
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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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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 45
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 46
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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 47
ArticlesPeer ReviewedFull Text
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 48
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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 49
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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 50
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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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Report of the tenth annual International Pachyonychia Congenita Consortium meeting
Author / Creator:van Steensel, Maurice A.M. ; Coulombe, Pierre A. ; Kaspar, Roger L. ; Milstone, Leonard M. ; McLean, W.H. Irwin ; Roop, Dennis R. ; Smith, Frances J.D. ; Sprecher, Eli ; Schwartz, Mary E.
Journal title:Journal of investigative dermatology, 2014-03, Vol.134 (3), p.588-591
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Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy
Author / Creator: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
Publisher:United States: Public Library of Science
Journal title:PloS one, 2011-12, Vol.6 (12), p.e28582-e28582
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Select record 53
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Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis
Author / Creator:Nomura, Toshifumi ; Akiyama, Masashi ; Sandilands, Aileen ; Nemoto-Hasebe, Ikue ; Sakai, Kaori ; Nagasaki, Akari ; Palmer, Colin N.A. ; Smith, Frances J.D. ; McLean, W.H Irwin ; Shimizu, Hiroshi
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2009-05, Vol.129 (5), p.1302-1305
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Select record 54
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Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
Author / Creator:Wilson, Neil J. ; Cárdenas Pérez, Mónica L. ; Vahlquist, Anders ; Schwartz, Mary E. ; David Hansen, C. ; Irwin McLean, W.H. ; Smith, Frances J.D.
Publisher:New York, NY: Elsevier Inc
Journal title:Journal of investigative dermatology, 2012-07, Vol.132 (7), p.1921-1924
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Select record 55
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Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting
Author / Creator:van Steensel, Maurice A.M. ; Coulombe, Pierre A. ; Kaspar, Roger L. ; Milstone, Leonard M. ; McLean, Irwin W.H. ; Roop, Dennis R. ; Smith, Frances J.D. ; Sprecher, Eli ; Schwartz, Mary E.
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2014-03, Vol.134 (3), p.588-591
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Development of Quantitative Molecular Clinical End Points for siRNA Clinical Trials
Author / Creator:Hickerson, Robyn P. ; Leachman, Sancy A. ; Pho, Lana N. ; Gonzalez-Gonzalez, Emilio ; Smith, Frances J.D. ; McLean, W.H. Irwin ; Contag, Christopher H. ; Leake, Devin ; Milstone, Leonard M. ; Kaspar, Roger L.
Publisher:New York, NY: Elsevier Inc
Journal title:Journal of investigative dermatology, 2011-05, Vol.131 (5), p.1029-1036
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Keratin 17 mutations in four families from India with pachyonychia congenita
Author / Creator:Agarwala, Manoj ; Salphale, Pankaj ; Peter, Dincy ; Wilson, NeilJ ; Pulimood, Susanne ; Schwartz, MaryE ; Smith, FrancesJ D
Publisher:India: Medknow Publications and Media Pvt. Ltd
Journal title:Indian journal of dermatology, 2017-07, Vol.62 (4), p.422-426
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Select record 58
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Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view
Author / Creator:Cogulu, Ozgur ; Onay, Huseyin ; Aykut, Ayca ; Wilson, Neil J. ; Smith, Frances J. D. ; Dereli, Tugrul ; Ozkinay, Ferda
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2009-10, Vol.168 (10), p.1269-1272
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Select record 59
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Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome
Author / Creator:Ashton, Gabrielle H.S. ; Irwin Mclean, W.H. ; South, Andrew P. ; Oyama, Noritaka ; Smith, Frances J.D. ; Al-Suwaid, Raouf ; Al Ismaily, Abla ; Atherton, David J. ; Harwood, Catherine A. ; Leigh, Irene M. ; Moss, Celia ; Didona, Biagio ; Zambruno, Giovanna ; Patrizi, Annalisa ; Eady, Robin A.J. ; Mcgrath, John A.
Publisher:Danvers, MA: Elsevier Inc
Journal title:Journal of investigative dermatology, 2004-01, Vol.122 (1), p.78-83
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Select record 60
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Nail that Mutation—Keratin 17 Defect in Late-Onset Pachyonychia
Author / Creator:Smith, Frances J.D.
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2004-04, Vol.122 (4), p.x-xi
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Showing 41 to 60 of 62 results

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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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Report of the tenth annual International Pachyonychia Congenita Consortium meeting

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Development of Allele-Specific Therapeutic siRNA in Meesmann Epithelial Corneal Dystrophy

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Prevalent and Rare Mutations in the Gene Encoding Filaggrin in Japanese Patients with Ichthyosis Vulgaris and Atopic Dermatitis

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Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita

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Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting

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Development of Quantitative Molecular Clinical End Points for siRNA Clinical Trials

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Keratin 17 mutations in four families from India with pachyonychia congenita

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Pachyonychia congenita type 2, N92S mutation of keratin 17 gene: clinical features, mutation analysis and pathological view

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Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome

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Nail that Mutation—Keratin 17 Defect in Late-Onset Pachyonychia

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