Mutations in IL36RN in Patients with Generalized Pustular Psoriasis

被引：87

作者：

Koerber, Andreas ^{[1
]}

Moessner, Rotraut ^{[2
]}

Renner, Regina ^{[3
]}

Sticht, Heinrich ^{[4
]}

Wilsmann-Theis, Dagmar ^{[5
]}

Schulz, Peter ^{[6
]}

Sticherling, Michael ^{[3
]}

Traupe, Heiko ^{[7
]}

Hueffmeier, Ulrike ^{[8
]}

机构：

[1] Univ Essen Gesamthsch, Dept Dermatol, Essen, Germany

[2] Univ Gottingen, Dept Dermatol, D-37073 Gottingen, Germany

[3] Univ Erlangen Nurnberg, Dept Dermatol, Erlangen, Germany

[4] Univ Erlangen Nurnberg, Inst Biochem, D-91054 Erlangen, Germany

[5] Univ Bonn, Dept Dermatol, Bonn, Germany

[6] Fachklin Bad Bentheim, Dept Dermatol, Bad Bentheim, Germany

[7] Univ Munster, Dept Dermatol, D-48149 Munster, Germany

[8] Univ Erlangen Nurnberg, Inst Human Genet, Erlangen, Germany

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2013年 / 133卷 / 11期

关键词：

CARD14;

D O I：

10.1038/jid.2013.214

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：2634 / 2637

页数：4

共 14 条

[1] Generalized pustular psoriasis (Zumbusch): a French epidemiological survey [J].

Augey, Frederic ;

Renaudier, Philippe ;

Nicolas, Jean-Francois .

EUROPEAN JOURNAL OF DERMATOLOGY, 2006, 16 (06) :669-673

[2] IL-1RL2 and Its Ligands Contribute to the Cytokine Network in Psoriasis [J].

Blumberg, Hal ;

Dinh, Huyen ;

Dean, Charles, Jr. ;

Trueblood, Esther S. ;

Bailey, Keith ;

Shows, Donna ;

Bhagavathula, Narasimharao ;

Aslam, Muhammad Nadeem ;

Varani, James ;

Towne, Jennifer E. ;

Sims, John E. .

JOURNAL OF IMMUNOLOGY, 2010, 185 (07) :4354-4362

[3] High-resolution structure of murine interleukin 1 homologue IL-1F5 reveals unique loop conformations for receptor binding specificity [J].

Dunn, EF ;

Gay, NJ ;

Bristow, AF ;

Gearing, DP ;

O'Neill, LAJ ;

Pei, XY .

BIOCHEMISTRY, 2003, 42 (37) :10938-10944

[4] Mutation Analysis of the IL36RN Gene in 14 Japanese Patients with Generalized Pustular Psoriasis [J].

Farooq, Muhammad ;

Nakai, Hiroyuki ;

Fujimoto, Atsushi ;

Fujikawa, Hiroki ;

Matsuyama, Asako ;

Kariya, Naoyuki ;

Aizawa, Atsuko ;

Fujiwara, Hiroshi ;

Ito, Masaaki ;

Shimomura, Yutaka .

HUMAN MUTATION, 2013, 34 (01) :176-183

[5] Automated comparative protein structure modeling with SWISS-MODEL and Swiss-PdbViewer: A historical perspective [J].

Guex, Nicolas ;

Peitsch, Manuel C. ;

Schwede, Torsten .

ELECTROPHORESIS, 2009, 30 :S162-S173

[6] PSORS2 Is Due to Mutations in CARD14 [J].

Jordan, Catherine T. ;

Cao, Li ;

Roberson, Elisha D. O. ;

Pierson, Katherine C. ;

Yang, Chi-Fan ;

Joyce, Cailin E. ;

Ryan, Caitriona ;

Duan, Shenghui ;

Helms, Cynthia A. ;

Liu, Yin ;

Chen, Yongqing ;

McBride, Alison A. ;

Hwu, Wuh-Liang ;

Wu, Jer-Yuarn ;

Chen, Yuan-Tsong ;

Menter, Alan ;

Goldbach-Mansky, Raphaela ;

Lowes, Michelle A. ;

Bowcock, Anne M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (05) :784-795

[7] Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis [J].

Jordan, Catherine T. ;

Cao, Li ;

Roberson, Elisha D. O. ;

Duan, Shenghui ;

Helms, Cynthia A. ;

Nair, Rajan P. ;

Duffin, Kristina Callis ;

Stuart, Philip E. ;

Goldgar, David ;

Hayashi, Genki ;

Olfson, Emily H. ;

Feng, Bing-Jian ;

Pullinger, Clive R. ;

Kane, John P. ;

Wise, Carol A. ;

Goldbach-Mansky, Raphaela ;

Lowes, Michelle A. ;

Peddle, Lynette ;

Chandran, Vinod ;

Liao, Wilson ;

Rahman, Proton ;

Krueger, Gerald G. ;

Gladman, Dafna ;

Elder, James T. ;

Menter, Alan ;

Bowcock, Anne M. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (05) :796-808

[8] Interleukin-36-Receptor Antagonist Deficiency and Generalized Pustular Psoriasis [J].

Marrakchi, Slaheddine ;

Guigue, Philippe ;

Renshaw, Blair R. ;

Puel, Anne ;

Pei, Xue-Yuan ;

Fraitag, Sylvie ;

Zribi, Jihen ;

Bal, Elodie ;

Cluzeau, Celine ;

Chrabieh, Maya ;

Towne, Jennifer E. ;

Douangpanya, Jason ;

Pons, Christian ;

Mansour, Sourour ;

Serre, Valerie ;

Makni, Hafedh ;

Mahfoudh, Nadia ;

Fakhfakh, Faiza ;

Bodemer, Christine ;

Feingold, Josue ;

Hadj-Rabia, Smail ;

Favre, Michel ;

Genin, Emmanuelle ;

Sahbatou, Mourad ;

Munnich, Arnold ;

Casanova, Jean-Laurent ;

Sims, John E. ;

Turki, Hamida ;

Bachelez, Herve ;

Smahi, Asma .

NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (07) :620-628

[9] Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis [J].

Onoufriadis, Alexandros ;

Simpson, Michael A. ;

Pink, Andrew E. ;

Di Meglio, Paola ;

Smith, Catherine H. ;

Pullabhatla, Venu ;

Knight, Jo ;

Spain, Sarah L. ;

Nestle, Frank O. ;

Burden, A. David ;

Capon, Francesca ;

Trembath, Richard C. ;

Barker, Jonathan N. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (03) :432-437

[10] RASMOL - BIOMOLECULAR GRAPHICS FOR ALL [J].

SAYLE, RA ;

MILNERWHITE, EJ .

TRENDS IN BIOCHEMICAL SCIENCES, 1995, 20 (09) :374-376

← 1 2 →