Keratins and skin disease
Knöbel, Maria, O’Toole, Edel A, Smith, Frances J. D
Published in Cell and tissue research (01.06.2015)
Published in Cell and tissue research (01.06.2015)
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Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting
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
Published in Nature genetics (01.10.2013)
Published in Nature genetics (01.10.2013)
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Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin
McAleer, Maeve A., MB, MRCP, Pohler, Elizabeth, PhD, Smith, Frances J.D., PhD, Wilson, Neil J., MSc, Cole, Christian, PhD, MacGowan, Stuart, PhD, Koetsier, Jennifer L., BS, Godsel, Lisa M., PhD, Harmon, Robert M., PhD, Gruber, Robert, MD, Crumrine, Debra, BS, Elias, Peter M., MD, McDermott, Michael, FRCPath, Butler, Karina, FRCPI, Broderick, Annemarie, MRCPI, Sarig, Ofer, PhD, Sprecher, Eli, MD, PhD, Green, Kathleen J., PhD, McLean, W.H. Irwin, PhD, DSc, FRS, FRSE, FMedSci, Irvine, Alan D., MD
Published in Journal of allergy and clinical immunology (01.11.2015)
Published in Journal of allergy and clinical immunology (01.11.2015)
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The Phenotypic and Molecular Genetic Features of Pachyonychia Congenita
McLean, W.H. Irwin, Hansen, C. David, Eliason, Mark J., Smith, Frances J.D.
Published in Journal of investigative dermatology (01.05.2011)
Published in Journal of investigative dermatology (01.05.2011)
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Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis
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
Published in Journal of allergy and clinical immunology (01.02.2007)
Published in Journal of allergy and clinical immunology (01.02.2007)
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Filaggrin null mutations are associated with increased asthma severity in children and young adults
Palmer, Colin N.A., PhD, Ismail, Tahmina, MBBS, MSc, Lee, Simon P., MSc, Terron-Kwiatkowski, Ana, PhD, Zhao, Yiwei, MD, Liao, Haihui, MD, Smith, Frances J.D., PhD, McLean, W.H. Irwin, PhD, DSc, FRSE, Mukhopadhyay, Somnath, FRCPCH, PhD
Published in Journal of allergy and clinical immunology (01.07.2007)
Published in Journal of allergy and clinical immunology (01.07.2007)
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Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema
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
Published in Nature genetics (01.05.2007)
Published in Nature genetics (01.05.2007)
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Array-based sequencing of filaggrin gene for comprehensive detection of disease-associated variants
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.
Published in Journal of allergy and clinical immunology (01.02.2018)
Published in Journal of allergy and clinical immunology (01.02.2018)
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Technetium Incorporation into Goethite (α-FeOOH): An Atomic-Scale Investigation
Smith, Frances N, Taylor, Christopher D, Um, Wooyong, Kruger, Albert A
Published in Environmental science & technology (17.11.2015)
Published in Environmental science & technology (17.11.2015)
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Site‐Selective Modification of Peptides and Proteins via Interception of Free‐Radical‐Mediated Dechalcogenation
Griffiths, Rhys C., Smith, Frances R., Long, Jed E., Williams, Huw E. L., Layfield, Robert, Mitchell, Nicholas J.
Published in Angewandte Chemie International Edition (21.12.2020)
Published in Angewandte Chemie International Edition (21.12.2020)
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In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation
Hegde, Vikas, Hickerson, Robyn P., Nainamalai, Sitheswaran, Campbell, Paul A., Smith, Frances J.D., McLean, W.H. Irwin, Leslie Pedrioli, Deena M.
Published in Journal of controlled release (28.12.2014)
Published in Journal of controlled release (28.12.2014)
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Site‐Selective Installation of Nϵ‐Modified Sidechains into Peptide and Protein Scaffolds via Visible‐Light‐Mediated Desulfurative C–C Bond Formation
Griffiths, Rhys C., Smith, Frances R., Long, Jed E., Scott, Daniel, Williams, Huw E. L., Oldham, Neil J., Layfield, Robert, Mitchell, Nicholas J.
Published in Angewandte Chemie International Edition (10.01.2022)
Published in Angewandte Chemie International Edition (10.01.2022)
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Prevalent and Rare Mutations in the Gene Encoding Filaggrin Cause Ichthyosis Vulgaris and Predispose Individuals to Atopic Dermatitis
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.
Published in Journal of investigative dermatology (01.08.2006)
Published in Journal of investigative dermatology (01.08.2006)
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Journal Article
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
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
Published in Nature genetics (01.03.2006)
Published in Nature genetics (01.03.2006)
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