Intragenic Copy Number Variation within Filaggrin Contributes to the Risk of Atopic Dermatitis with a Dose-Dependent Effect

por Brown, Sara J, Kroboth, Karin, Sandilands, Aileen, Campbell, Linda E, Pohler, Elizabeth, Kezic, Sanja, Cordell, Heather J, McLean, W H Irwin, Irvine, Alan D
Publicado 2012

Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis

por Cole, Christian, Kroboth, Karin, Schurch, Nicholas J., Sandilands, Aileen, Sherstnev, Alexander, O'Regan, Grainne M., Watson, Rosemarie M., Irwin McLean, W.H., Barton, Geoffrey J., Irvine, Alan D., Brown, Sara J.
Publicado 2014

South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin()

por Thawer-Esmail, Fatemah, Jakasa, Ivone, Todd, Gail, Wen, Yaran, Brown, Sara J., Kroboth, Karin, Campbell, Linda E., O'Regan, Grainne M., McLean, W.H. Irwin, Irvine, Alan D., Kezic, Sanja, Sandilands, Aileen
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

Raman profiles of the stratum corneum define 3 filaggrin genotype–determined atopic dermatitis endophenotypes

por O'Regan, Gráinne M., Kemperman, Patrick M.J.H., Sandilands, Aileen, Chen, Huijia, Campbell, Linda E., Kroboth, Karin, Watson, Rosemarie, Rowland, Marion, Puppels, Gerwin J., McLean, W.H. Irwin, Caspers, Peter J., Irvine, Alan D.
Publicado 2010

Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin

por Sandilands, Aileen, Brown, Sara J., Goh, Christabelle S., Pohler, Elizabeth, Wilson, Neil J., Campbell, Linda E., Miyamoto, Kenichi, Kubo, Akiharu, Irvine, Alan D., Thawer-Esmail, Fatema, Munro, Colin S., McLean, W.H. Irwin, Kudoh, Jun, Amagai, Masayuki, Matsui, Takeshi
Publicado 2012

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa

por Vermeer, Franciscus C., Bremer, Jeroen, Sietsma, Robert J., Sandilands, Aileen, Hickerson, Robyn P., Bolling, Marieke C., Pasmooij, Anna M.G., Lemmink, Henny H., Swertz, Morris A., Knoers, Nine V.A.M., van der Velde, K. Joeri, van den Akker, Peter C.
Publicado 2021

A homozygous frameshift mutation in the murine filaggrin gene facilitates enhanced percutaneous allergen priming

por Fallon, Padraic G., Sasaki, Takashi, Sandilands, Aileen, Campbell, Linda E., Saunders, Sean P., Mangan, Niamh E., Callanan, John J., Kawasaki, Hiroshi, Shiohama, Aiko, Kubo, Akiharu, Sundberg, John, Presland, Richard B., Fleckman, Philip, Shimizu, Nobuyoshi, Kudoh, Jun, Irvine, Alan D., Amagai, Masayuki, McLean, W. H. Irwin
Publicado 2009

Filaggrin loss-of-function mutations are associated with enhanced expression of IL-1 cytokines in the stratum corneum of patients with atopic dermatitis and in a murine model of fi...

por Kezic, Sanja, O’Regan, Gráinne M., Lutter, René, Jakasa, Ivone, Koster, Ellen S., Saunders, Sean, Caspers, Peter, Kemperman, Patrick M.J.H., Puppels, Gerwin J., Sandilands, Aileen, Chen, Huijia, Campbell, Linda E., Kroboth, Karin, Watson, Rosemarie, Fallon, Padraic G., McLean, W. H. Irwin, Irvine, Alan D.
Publicado 2012

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

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

Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects

por Saunders, Sean P., Goh, Christabelle S.M., Brown, Sara J., Palmer, Colin N.A., Porter, Rebecca M., Cole, Christian, Campbell, Linda E., Gierlinski, Marek, Barton, Geoffrey J., Schneider, Georg, Balmain, Allan, Prescott, Alan R., Weidinger, Stephan, Baurecht, Hansjörg, Kabesch, Michael, Gieger, Christian, Lee, Young-Ae, Tavendale, Roger, Mukhopadhyay, Somnath, Turner, Stephen W., Madhok, Vishnu B., Sullivan, Frank M., Relton, Caroline, Burn, John, Meggitt, Simon, Smith, Catherine H., Allen, Michael A., Barker, Jonathan N.W. N., Reynolds, Nick J., Cordell, Heather J., Irvine, Alan D., McLean, W.H. Irwin, Sandilands, Aileen, Fallon, Padraic G.
Publicado 2013