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

por Smith, Frances J. D., McLean, W. H. Irwin
Publicado 2017

Pachyonychia Congenita: New Classification and Diagnosis

por Agarwala, Manoj Kumar, Schwartz, Mary E, Smith, Frances J D
Publicado 2016

PSENEN Mutation in Coexistent Hidradenitis Suppurativa and Dowling-Degos Disease

por Peter, Dincy C. V., Smith, Frances J. D., Wilson, Neil J., Danda, Sumita
Publicado 2020

Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita

por Agarwala, Manoj, Salphale, Pankaj, Peter, Dincy, Wilson, Neil J, Pulimood, Susanne, Schwartz, Mary E, Smith, Frances J D
Publicado 2017

In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation

por Hegde, Vikas, Hickerson, Robyn P., Nainamalai, Sitheswaran, Campbell, Paul A., Smith, Frances J.D., McLean, W.H. Irwin, Leslie Pedrioli, Deena M.
Publicado 2014

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

por Pöhler, Elizabeth, Zamiri, Mozheh, Harkins, Catriona P, Salas-Alanis, Julio C, Perkins, William, Smith, Frances J D, Irwin McLean, W H, Brown, Sara J
Publicado 2013

Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis

por Fu, Dun Jack, Thomson, Calum, Lunny, Declan P, Dopping-Hepenstal, Patricia J, McGrath, John A, Smith, Frances J D, Irwin McLean, W H, Pedrioli, Deena M Leslie
Publicado 2014

Expanding the Phenotypic Spectrum of Olmsted Syndrome

por Wilson, Neil J, Cole, Christian, Milstone, Leonard M, Kiszewski, Ana E, Hansen, C David, O'Toole, Edel A, Schwartz, Mary E, McLean, W H Irwin, Smith, Frances J D
Publicado 2015

Report of the tenth annual International Pachyonychia Congenita Consortium meeting

por 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.
Publicado 2014

Generation and Characterisation of Keratin 7 (K7) Knockout Mice

por 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
Publicado 2013

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

por 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
Publicado 2011

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

por 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.
Publicado 2018

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

por McAleer, Maeve A., Pohler, Elizabeth, Smith, Frances J.D., Wilson, Neil J., Cole, Christian, MacGowan, Stuart, Koetsier, Jennifer L., Godsel, Lisa M., Harmon, Robert M., Gruber, Robert, Crumrine, Debra, Elias, Peter M., McDermott, Michael, Butler, Karina, Broderick, Annemarie, Sarig, Ofer, Sprecher, Eli, Green, Kathleen J., McLean, W.H. Irwin, Irvine, Alan D.
Publicado 2015

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

por Allen, Edwin H.A., Courtney, David G., Atkinson, Sarah D., Moore, Johnny E., Mairs, Laura, Poulsen, Ebbe Toftgaard, Schiroli, Davide, Maurizi, Eleonora, Cole, Christian, Hickerson, Robyn P., James, John, Murgatroyd, Helen, Smith, Frances J.D., MacEwen, Carrie, Enghild, Jan J., Nesbit, M. Andrew, Leslie Pedrioli, Deena M., McLean, W.H. Irwin, Moore, C.B. Tara
Publicado 2016

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

por Pohler, Elizabeth, Mamai, Ons, Hirst, Jennifer, Zamiri, Mozheh, Horn, Helen, Nomura, Toshifumi, Irvine, Alan D., Moran, Benvon E., 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, Akihiro, 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
Publicado 2012