Prevalent and low-frequency null mutations in the filaggrin gene are associated with early-onset and persistent atopic eczema

被引:85
作者
Brown, Sara J. [1 ,6 ]
Sandilands, Aileen [2 ]
Zhao, Yiwei [2 ]
Liao, Haihui [2 ]
Relton, Caroline L. [3 ]
Meggitt, Simon J. [1 ]
Trembath, Richard C. [4 ]
Barker, Jonathan N. W. N. [5 ]
Reynolds, Nick J. [1 ,7 ]
Cordell, Heather J. [6 ]
McLean, W. H. Irwin [2 ]
机构
[1] Royal Victoria Infirm, Dept Dermatol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England
[2] Univ Dundee, Ninewells Hosp & Med Sch, Epithelial Genet Grp, Human Genet Unit, Dundee DD1 9SY, Scotland
[3] Newcastle Univ, Sch Clin Med Sci Child Hlth, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
[4] Kings Coll London, Dept Med & Mol Genet, London WC2R 2LS, England
[5] Kings Coll London, St Johns Inst Dermatol, London WC2R 2LS, England
[6] Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
[7] Newcastle Univ, Inst Cellular Med, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
基金
英国医学研究理事会;
关键词
D O I
10.1038/sj.jid.5701206
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 [皮肤病与性病学];
摘要
引用
收藏
页码:1591 / 1594
页数:5
相关论文
共 15 条
[1]
Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood [J].
Barker, Jonathan N. W. N. ;
Palmer, Colin N. A. ;
Zhao, Yiwei ;
Liao, Haihui ;
Hull, Peter R. ;
Lee, Simon P. ;
Allen, Michael H. ;
Meggitt, Simon J. ;
Reynolds, Nicholas J. ;
Trembath, Richard C. ;
McLean, W. H. Irwin .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 (03) :564-567
[2]
DUDBRIDGE F, 2007, IN PRESS HUM HERED
[3]
Fleshing out filaggrin phenotypes [J].
Irvine, Alan D. .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 (03) :504-507
[4]
Altered penetration of polyethylene glycols into uninvolved skin of atopic dermatitis patients [J].
Jakasa, Ivone ;
Verberk, Maarten M. ;
Esposito, Maria ;
Bos, Jan D. ;
Kezic, Sanja .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 (01) :129-134
[5]
Revised nomenclature for allergy for global use: Report of the Nomenclature Review Committee of the World Allergy Organization, October 2003 [J].
Johansson, SGO ;
Bieber, T ;
Dahl, R ;
Friedmann, PS ;
Lanier, BQ ;
Lockey, RF ;
Motala, C ;
Martell, JAO ;
Platts-Mills, TAE ;
Ring, J ;
Thien, F ;
Van Cauwenberge, P ;
Williams, HC .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2004, 113 (05) :832-836
[6]
INTERACTION OF FILAGGRIN WITH KERATIN FILAMENTS DURING ADVANCED STAGES OF NORMAL HUMAN EPIDERMAL DIFFERENTIATION AND IN ICHTHYOSIS-VULGARIS [J].
MANABE, M ;
SANCHEZ, M ;
SUN, TT ;
DALE, BA .
DIFFERENTIATION, 1991, 48 (01) :43-50
[7]
Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex (''epidermal differentiation complex'') on human chromosome 1q21 [J].
Mischke, D ;
Korge, BP ;
Marenholz, I ;
Volz, A ;
Ziegler, A .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1996, 106 (05) :989-992
[8]
Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis [J].
Palmer, CNA ;
Irvine, AD ;
Terron-Kwiatkowski, A ;
Zhao, YW ;
Liao, HH ;
Lee, SP ;
Goudie, DR ;
Sandilands, A ;
Campbell, LE ;
Smith, FJD ;
O'Regan, GM ;
Watson, RM ;
Cecil, JE ;
Bale, SJ ;
Compton, JG ;
DiGiovanna, JJ ;
Fleckman, P ;
Lewis-Jones, S ;
Arseculeratne, G ;
Sergeant, A ;
Munro, CS ;
El Houate, B ;
McElreavey, K ;
Halkjaer, LB ;
Bisgaard, H ;
Mukhopadhyay, S ;
McLean, WHI .
NATURE GENETICS, 2006, 38 (04) :441-446
[9]
Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice:: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris [J].
Presland, RB ;
Boggess, D ;
Lewis, SP ;
Hull, C ;
Fleckman, P ;
Sundberg, JP .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2000, 115 (06) :1072-1081
[10]
Rawlings AV., 2004, DERMATOL THER, V17, P43, DOI DOI 10.1111/J.1396-0296.2004.04S1005.X