Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association

被引:49
作者
Cascella, Raffaella [1 ]
Cuzzola, Valeria F. [2 ]
Lepre, Tiziana [1 ]
Galli, Elena [3 ]
Moschese, Viviana [4 ]
Chini, Loredana [4 ]
Mazzanti, Cinzia [5 ]
Fortugno, Paola [6 ]
Novelli, Giuseppe [1 ,7 ,8 ,9 ]
Giardina, Emiliano [1 ]
机构
[1] Univ Roma Tor Vergata, Sch Med, Ctr Excellence Genom Risk Assessment Multifactori, Rome, Italy
[2] IRCCS Ctr Neurolesi Bonino Pulejo, Messina, Italy
[3] San Pietro Hosp, Rome, Italy
[4] Univ Roma Tor Vergata, Dept Pediat, Rome, Italy
[5] IDI IRCCS, Ist Dermopat Immacolata, Div Dermatol 2, Day Hosp Serv, Rome, Italy
[6] IDI IRCCS, Ist Dermopat Immacolata, Lab Mol & Cell Biol, Rome, Italy
[7] Univ Arkansas Med Sci, Dept Cardiovasc Med, Little Rock, AR 72205 USA
[8] Univ Roma Tor Vergata, Dept Dermatol, Rome, Italy
[9] Univ Roma La Sapienza, Dept Appl Clin & Med Therapy, Rheumatol Unit, Rome, Italy
关键词
FILAGGRIN MUTATIONS; PREDISPOSE;
D O I
10.1038/jid.2010.398
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100227 [皮肤病学];
摘要
引用
收藏
页码:982 / 984
页数:3
相关论文
共 8 条
[1]
Deletion of Late Cornified Envelope 3B and 3C Genes Is Not Associated with Atopic Dermatitis [J].
Bergboer, Judith G. M. ;
Zeeuwen, Patrick L. J. M. ;
Irvine, Alan D. ;
Weidinger, Stephan ;
Giardina, Emiliano ;
Novelli, Giuseppe ;
Den Heijer, Martin ;
Rodriguez, Elke ;
Illig, Thomas ;
Riveira-Munoz, Eva ;
Campbell, Linda E. ;
Tyson, Jess ;
Dannhauser, Emma N. ;
O'Regan, Grainne M. ;
Galli, Elena ;
Klopp, Norman ;
Koppelman, Gerard H. ;
Novak, Natalija ;
Estivill, Xavier ;
McLean, W. H. Irwin ;
Postma, Dirkje S. ;
Armour, John A. L. ;
Schalkwijk, Joost .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2010, 130 (08) :2057-2061
[2]
Epidermal Barrier Dysfunction in Atopic Dermatitis [J].
Cork, Michael J. ;
Danby, Simon G. ;
Vasilopoulos, Yiannis ;
Hadgraft, Jonathan ;
Lane, Majella E. ;
Moustafa, Manar ;
Guy, Richard H. ;
MacGowan, Alice L. ;
Tazi-Ahnini, Rachid ;
Ward, Simon J. .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 (08) :1892-1908
[3]
R501X and 2282del4 filaggrin mutations do not confer susceptibility to psoriasis and atopic dermatitis in Italian patients [J].
Giardina, Emiliano ;
Paolillo, Nicoletta ;
Sinibaldi, Cecilia ;
Novelli, Giuseppe .
DERMATOLOGY, 2008, 216 (01) :83-84
[4]
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
[5]
Meta-analysis of filaggrin polymorphisms in eczema and asthma: Robust risk factors in atopic disease [J].
Rodriguez, Elke ;
Baurecht, Hansjoerg ;
Herberich, Esther ;
Wagenpfeil, Stefan ;
Brown, Sara J. ;
Cordell, Heather J. ;
Irvine, Alan D. ;
Weidinger, Stephan .
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2009, 123 (06) :1361-1370
[6]
Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis [J].
Sandilands, Aileen ;
O'Regan, Grainne M. ;
Liao, Haihui ;
Zhao, Yiwei ;
Terron-Kwiatkowski, Ana ;
Watson, Rosemarie M. ;
Cassidy, Andrew J. ;
Goudie, David R. ;
Smith, Frances J. D. ;
McLean, W. H. Irwin ;
Irvine, Alan D. .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2006, 126 (08) :1770-1775
[7]
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris [J].
Smith, FJD ;
Irvine, AD ;
Terron-Kwiatkowski, A ;
Sandilands, A ;
Campbell, LE ;
Zhao, YW ;
Liao, HH ;
Evans, AT ;
Goudie, DR ;
Lewis-Jones, S ;
Arseculeratne, G ;
Munro, CS ;
Sergeant, A ;
O'Regan, G ;
Bale, SJ ;
Compton, JG ;
DiGiovanna, JJ ;
Presland, RB ;
Fleckman, P ;
McLean, WHI .
NATURE GENETICS, 2006, 38 (03) :337-342
[8]
Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis [J].
Weidinger, Stephan ;
Rodriguez, Elke ;
Stahl, Caroline ;
Wagenpfeil, Stefan ;
Klopp, Norman ;
Illig, Thomas ;
Novak, Natalija .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 (03) :724-726