Filaggrin in the frontline: role in skin barrier function and disease von Sandilands, Aileen, Sutherland, Calum, Irvine, Alan D, McLean, W.H. Irwin

Volltext

The persistence of atopic dermatitis and filaggrin ( FLG ) mutations in a US longitudinal cohort von Margolis, David J., MD, PhD, Apter, Andrea J., MD, MSc, Gupta, Jayanta, MD, PhD, Hoffstad, Ole, MS, Papadopoulos, Maryte, BA, Campbell, Linda E., BA, Sandilands, Aileen, PhD, McLean, W.H. Irwin, PhD, DSc, Rebbeck, Tim R., PhD, Mitra, Nandita, PhD

Volltext

Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis von Cole, Christian, PhD, Kroboth, Karin, MSc, Schurch, Nicholas J., PhD, Sandilands, Aileen, PhD, Sherstnev, Alexander, PhD, O'Regan, Grainne M., MRCPI, Watson, Rosemarie M., MD, Irwin McLean, W.H., DSc, Barton, Geoffrey J., PhD, Irvine, Alan D., MD, Brown, Sara J., MD

Volltext

Filaggrin in atopic dermatitis von O'Regan, Grainne M., MB, Sandilands, Aileen, PhD, McLean, W.H. Irwin, PhD, DSc, Irvine, Alan D., MD, FRCPI

Volltext

Filaggrin Genotype in Ichthyosis Vulgaris Predicts Abnormalities in Epidermal Structure and Function von Gruber, Robert, Elias, Peter M, Crumrine, Debra, Lin, Tzu-Kai, Brandner, Johanna M, Hachem, Jean-Pierre, Presland, Richard B, Fleckman, Philip, Janecke, Andreas R, Sandilands, Aileen, McLean, W.H. Irwin, Fritsch, Peter O, Mildner, Michael, Tschachler, Erwin, Schmuth, Matthias

Volltext

A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming von Irvine, Alan D, Shiohama, Aiko, Sundberg, John P, Presland, Richard B, Kudoh, Jun, Campbell, Linda E, Callanan, John J, Kawasaki, Hiroshi, Shimizu, Nobuyoshi, Mangan, Niamh E, Saunders, Sean P, Fleckman, Philip, Sandilands, Aileen, Kubo, Akiharu, Amagai, Masayuki, McLean, W H Irwin, Fallon, Padraic G, Sasaki, Takashi

Volltext

Raman profiles of the stratum corneum define 3 filaggrin genotype–determined atopic dermatitis endophenotypes von O'Regan, Gráinne M., MRCPI, Kemperman, Patrick M.J.H., MD, Sandilands, Aileen, PhD, Chen, Huijia, MD, Campbell, Linda E., BSc, Kroboth, Karin, PhD, Watson, Rosemarie, MD, Rowland, Marion, MB, PhD, Puppels, Gerwin J., PhD, McLean, W.H. Irwin, DSc, FMedSci, Caspers, Peter J., PhD, Irvine, Alan D., MD, FRCPI

Volltext

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... von Kezic, Sanja, PhD, O’Regan, Gráinne M., MRCPI, Lutter, René, PhD, Jakasa, Ivone, PhD, Koster, Ellen S., PhD, Saunders, Sean, BSc, Caspers, Peter, PhD, Kemperman, Patrick M.J.H., MD, Puppels, Gerwin J., PhD, Sandilands, Aileen, PhD, Chen, Huijia, PhD, Campbell, Linda E., BSc, Kroboth, Karin, MSc, Watson, Rosemarie, MD, Fallon, Padraic G., PhD, McLean, W. H. Irwin, DSc, FMedSci, Irvine, Alan D., MD, FRCPI

Volltext

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris von McLean, W H Irwin, 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

Volltext

Tmem79/Matt is the matted mouse gene and is a predisposing gene for atopic dermatitis in human subjects von Saunders, Sean P., PhD, Goh, Christabelle S.M., BSc, Brown, Sara J., MD, Palmer, Colin N.A., PhD, Porter, Rebecca M., PhD, Cole, Christian, PhD, Campbell, Linda E., MSc, Gierlinski, Marek, PhD, Barton, Geoffrey J., PhD, Schneider, Georg, PhD, Balmain, Allan, PhD, Prescott, Alan R., PhD, Weidinger, Stephan, MD, PhD, Baurecht, Hansjörg, PhD, Kabesch, Michael, MD, Gieger, Christian, PhD, Lee, Young-Ae, MD, Tavendale, Roger, PhD, Mukhopadhyay, Somnath, MD, Turner, Stephen W., MD, Madhok, Vishnu B., MD, Sullivan, Frank M., MD, Relton, Caroline, PhD, Burn, John, MD, Meggitt, Simon, MD, Smith, Catherine H., MD, Allen, Michael A., PhD, Barker, Jonathan N.W. N., MD, Reynolds, Nick J., MD, Cordell, Heather J., DPhil, Irvine, Alan D., MD, McLean, W.H. Irwin, DSc, Sandilands, Aileen, PhD, Fallon, Padraic G., PhD

Volltext

Filaggrin in atopic dermatitis von O'Regan, Grainne M., MB, Sandilands, Aileen, PhD, McLean, W.H. Irwin, PhD, DSc, Irvine, Alan D., MD, FRCPI

Volltext

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema von van Steensel, Maurice A M, Hull, Peter R, Palmer, Colin N A, Clayton, Timothy H, Sandilands, Aileen, Evans, Alan T, Bradley, Daniel G, Nagtzaam, Ivo, Campbell, Linda E, Terron-Kwiatkowski, Ana, Carrick, Thomas, Irvine, Alan D, Liao, Haihui, O'Regan, Gráinne M, Steijlen, Peter M, Gruber, Robert, Watson, Rosemarie M, Elias, Peter M, Schmuth, Matthias, McLean, W H Irwin, van Geel, Michel, Munro, Colin S, Smith, Frances J D, Zhao, Yiwei, Janecke, Andreas R

Volltext

South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin von Thawer-Esmail, Fatemah, MD, FCDermSA, Jakasa, Ivone, PhD, Todd, Gail, FFDerm (SA), PhD, Wen, Yaran, PhD, Brown, Sara J., MD, Kroboth, Karin, MSc, Campbell, Linda E., BSc, O'Regan, Grainne M., MRCPI, McLean, W.H. Irwin, DSc, FMedSci, Irvine, Alan D., MD, Kezic, Sanja, PhD, Sandilands, Aileen, PhD

Volltext

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa von 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

Volltext

Filaggrin null mutations and childhood atopic eczema: A population-based case-control study von Brown, Sara J., MRCP, Relton, Caroline L., PhD, Liao, Haihui, MD, Zhao, Yiwei, MD, Sandilands, Aileen, PhD, Wilson, Ian J., PhD, Burn, John, MD, Reynolds, Nick J., MD, McLean, W. H. Irwin, PhD, DSc, Cordell, Heather J., DPhil

Volltext

Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis von Sandilands, Aileen, O'Regan, Gráinne M., Liao, Haihui, Zhao, Yiwei, Terron-Kwiatkowski, Ana, Watson, Rosemarie M., Cassidy, Andrew J., Goudie, David R., Smith, Frances J.D., Irwin McLean, W.H., Irvine, Alan D.

Volltext

Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis von Nomura, Toshifumi, MD, Sandilands, Aileen, PhD, Akiyama, Masashi, MD, PhD, Liao, Haihui, MD, Evans, Alan T., MD, Sakai, Kaori, Ota, Mitsuhito, MD, PhD, Sugiura, Hisashi, MD, PhD, Yamamoto, Kazuo, MD, PhD, Sato, Hiroshi, MD, PhD, Palmer, Colin N.A., PhD, Smith, Frances J.D., PhD, McLean, W.H. Irwin, PhD, DSc, FRSE, Shimizu, Hiroshi, PhD

Volltext

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma von 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

Volltext

Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis von Bochner, Ron, Samuelov, Liat, Sarig, Ofer, Li, Qiaoli, Adase, Christopher A., Isakov, Ofer, Malchin, Natalia, Vodo, Dan, Shayevitch, Ronna, Peled, Alon, Yu, Benjamin D., Fainberg, Gilad, Warshauer, Emily, Adir, Noam, Erez, Noam, Gat, Andrea, Gottlieb, Yehonatan, Rogers, Tova, Pavlovsky, Mor, Goldberg, Ilan, Shomron, Noam, Sandilands, Aileen, Campbell, Linda E., MacCallum, Stephanie, McLean, W. H. Irwin, Ast, Gil, Gallo, Richard L., Uitto, Jouni, Sprecher, Eli

Volltext

Generation and characterisation of keratin 7 (K7) knockout mice von 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

Volltext