Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

Nature Genetics - Tập 38 Số 4 - Trang 441-446 - 2006
Colin N. A. Palmer1, Alan D. Irvine2, Ana Terron-Kwiatkowski3, Yiwei Zhao3, Haihui Liao3, Simon P. Lee4, Colin E. Willoughby5, Aileen Sandilands3, Linda Campbell3, Frances J.D. Smith3, Gráinne O'Regan6, Rosemarie M. Watson6, Joanne E. Cecil7, Sherri J. Bale8, John G. Compton8, John J. DiGiovanna9,10, Philip Fleckman11, Sue Lewis‐Jones12, Gehan Arseculeratne12, Ann Sergeant13, C S Munro13, Brahim El Houate14, Ken McElreavey14, Liselotte Brydensholt Halkjær15, Hans Bisgaard15, Somnath Mukhopadhyay16,15, W.H. Irwin McLean3
1Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.
2Our Lady’s Hospital for Sick Children
3Division of Pathology and Neuroscience, Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
4Population Pharmacogenetics Group, Biomedical Research Centre, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
5Clinical Genetics, Tayside University Hospitals NHS Trust, Ninewells Hospital and Medical School, Dundee, UK
6Department of Paediatric Dermatology, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland
7University of St Andrews
8GeneDx, Gaithersburg, USA
9Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, USA
10Division of Dermatopharmacology, Department of Dermatology, Brown Medical School and Rhode Island Hospital, Providence, USA
11Division of Dermatology, Department of Medicine, University of Washington, Seattle, USA
12Dermatology, Tayside University Hospitals NHS Trust, Ninewells Hospital & Medical School, Dundee, UK
13Department of Dermatology, South Glasgow University Hospitals NHS Trust, Glasgow, UK
14Reproduction, Fertility and Populations, Institut Pasteur, Paris, France
15Danish Paediatric Asthma Centre, Copenhagen, University Hospital, DK-2900 Gentofte, Copenhagen, Denmark.
16Children's Asthma and Allergy Research Unit, Maternal and Child Health Sciences, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK

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