Pachyonychia Congenita: New Classification and Diagnosis

Por Agarwala, Manoj Kumar, Schwartz, Mary E, Smith, Frances J D
Publicado no Indian J Dermatol (2016)

First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population

Por CHIRIAC, Anca, RUSU, Cristina, MURGU, Alina, CHIRIAC, Anca E, WILSON, Neil J, SMITH, Frances J D
Publicado no Maedica (Bucur) (2017)

Genotype–Phenotype Correlations among Pachyonychia Congenita Patients with K16 Mutations

Por Fu, Teresa, Leachman, Sancy A., Wilson, Neil J., Smith, Frances J.D., Schwartz, Mary E., Tang, Jean Y.
Publicado em 2010

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 no Indian J Dermatol (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 no J Control Release (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 em 2013

Allele-specific siRNA silencing for the common Keratin 12 founder mutation in Meesmann epithelial corneal dystrophy

Por Allen, Edwin H. A., Atkinson, Sarah D., Liao, Haihui, Moore, Jonathan E., Pedrioli, Deena M. Leslie, Smith, Frances J. D., McLean, W. H. Irwin, Moore, C. B. Tara
Publicado em 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 em 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 no J Invest Dermatol (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 em 2014

Therapeutic siRNAs for dominant genetic skin diseases including pachyonychia congenita

Por Leachman, Sancy A., Hickerson, Robyn P., Hull, Peter R., Smith, Frances J. D., Milstone, Leonard M., Lane, E. Birgitte, Bale, Sherri J., Roop, Dennis R., McLean, W. H. Irwin, Kaspar, Roger L.
Publicado em 2008

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 em 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 em 2011

Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

Por Lin, Zhimiao, Zhao, Jiahui, Nitoiu, Daniela, Scott, Claire A., Plagnol, Vincent, Smith, Frances J.D., Wilson, Neil J., Cole, Christian, Schwartz, Mary E., McLean, W.H. Irwin, Wang, Huijun, Feng, Cheng, Duo, Lina, Zhou, Eray Yihui, Ren, Yali, Dai, Lanlan, Chen, Yulan, Zhang, Jianguo, Xu, Xun, O’Toole, Edel A., Kelsell, David P., Yang, Yong
Publicado no Am J Hum Genet (2015)

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 no J Allergy Clin Immunol (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 no Hum Mol Genet (2016)

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

Por Samuelov, Liat, Sarig, Ofer, Harmon, Robert M, Rapaport, Debora, Ishida-Yamamoto, Akemi, Isakov, Ofer, Koetsier, Jennifer L, Gat, Andrea, Goldberg, Ilan, Bergman, Reuven, Spiegel, Ronen, Eytan, Ori, Geller, Shamir, Peleg, Sarit, Shomron, Noam, Goh, Christabelle S M, Wilson, Neil J, Smith, Frances J D, Pohler, Elizabeth, Simpson, Michael A, McLean, W H Irwin, Irvine, Alan D, Horowitz, Mia, McGrath, John A, Green, Kathleen J, Sprecher, Eli
Publicado em 2013

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 em 2012

Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome

Por Siegel, Dawn H., Ashton, Gabrielle H. S., Penagos, Homero G., Lee, James V., Feiler, Heidi S., Wilhelmsen, Kirk C., South, Andrew P., Smith, Frances J. D., Prescott, Alan R., Wessagowit, Vesarat, Oyama, Noritaka, Akiyama, Masashi, Al Aboud, Daifullah, Al Aboud, Khalid, Al Githami, Ahmad, Al Hawsawi, Khalid, Al Ismaily, Abla, Al-Suwaid, Raouf, Atherton, David J., Caputo, Ruggero, Fine, Jo-David, Frieden, Ilona J., Fuchs, Elaine, Haber, Richard M., Harada, Takashi, Kitajima, Yasuo, Mallory, Susan B., Ogawa, Hideoki, Sahin, Sedef, Shimizu, Hiroshi, Suga, Yasushi, Tadini, Gianluca, Tsuchiya, Kikuo, Wiebe, Colin B., Wojnarowska, Fenella, Zaghloul, Adel B., Hamada, Takahiro, Mallipeddi, Rajeev, Eady, Robin A. J., McLean, W. H. Irwin, McGrath, John A., Epstein, Ervin H.
Publicado em 2003