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Literature DB >> 24476623

CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort.

Kazumitsu Sugiura¹, Masahiko Muto², Masashi Akiyama³.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2014 PMID： 24476623 DOI： 10.1038/jid.2014.46

Source DB: PubMed Journal: J Invest Dermatol ISSN： 0022-202X Impact factor: 8.551

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6 in total

1. Familial pityriasis rubra pilaris is caused by mutations in CARD14.

Authors: Dana Fuchs-Telem; Ofer Sarig; Maurice A M van Steensel; Ofer Isakov; Shirli Israeli; Janna Nousbeck; Katharina Richard; Veronique Winnepenninckx; Marigje Vernooij; Noam Shomron; Jouni Uitto; Philip Fleckman; Gabriele Richard; Eli Sprecher
Journal: Am J Hum Genet Date: 2012-06-14 Impact factor: 11.025

2. PSORS2 is due to mutations in CARD14.

Authors: Catherine T Jordan; Li Cao; Elisha D O Roberson; Katherine C Pierson; Chi-Fan Yang; Cailin E Joyce; Caitriona Ryan; Shenghui Duan; Cynthia A Helms; Yin Liu; Yongqing Chen; Alison A McBride; Wuh-Liang Hwu; Jer-Yuarn Wu; Yuan-Tsong Chen; Alan Menter; Raphaela Goldbach-Mansky; Michelle A Lowes; Anne M Bowcock
Journal: Am J Hum Genet Date: 2012-04-19 Impact factor: 11.025

3. Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

Authors: Catherine T Jordan; Li Cao; Elisha D O Roberson; Shenghui Duan; Cynthia A Helms; Rajan P Nair; Kristina Callis Duffin; Philip E Stuart; David Goldgar; Genki Hayashi; Emily H Olfson; Bing-Jian Feng; Clive R Pullinger; John P Kane; Carol A Wise; Raphaela Goldbach-Mansky; Michelle A Lowes; Lynette Peddle; Vinod Chandran; Wilson Liao; Proton Rahman; Gerald G Krueger; Dafna Gladman; James T Elder; Alan Menter; Anne M Bowcock
Journal: Am J Hum Genet Date: 2012-04-19 Impact factor: 11.025

4. The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist.

Authors: Kazumitsu Sugiura; Akemi Takemoto; Michiya Yamaguchi; Hidetoshi Takahashi; Yukiko Shoda; Teruyuki Mitsuma; Kenshiro Tsuda; Emi Nishida; Yaei Togawa; Kimiko Nakajima; Akihiro Sakakibara; Shigeo Kawachi; Makoto Shimizu; Yasutomo Ito; Takuya Takeichi; Michihiro Kono; Yasushi Ogawa; Yoshinao Muro; Akemi Ishida-Yamamoto; Shigetoshi Sano; Hiroyuki Matsue; Akimichi Morita; Hitoshi Mizutani; Hajime Iizuka; Masahiko Muto; Masashi Akiyama
Journal: J Invest Dermatol Date: 2013-05-22 Impact factor: 8.551

5. Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.

Authors: Lam C Tsoi; Sarah L Spain; Jo Knight; Eva Ellinghaus; Philip E Stuart; Francesca Capon; Jun Ding; Yanming Li; Trilokraj Tejasvi; Johann E Gudjonsson; Hyun M Kang; Michael H Allen; Ross McManus; Giuseppe Novelli; Lena Samuelsson; Joost Schalkwijk; Mona Ståhle; A David Burden; Catherine H Smith; Michael J Cork; Xavier Estivill; Anne M Bowcock; Gerald G Krueger; Wolfgang Weger; Jane Worthington; Rachid Tazi-Ahnini; Frank O Nestle; Adrian Hayday; Per Hoffmann; Juliane Winkelmann; Cisca Wijmenga; Cordelia Langford; Sarah Edkins; Robert Andrews; Hannah Blackburn; Amy Strange; Gavin Band; Richard D Pearson; Damjan Vukcevic; Chris C A Spencer; Panos Deloukas; Ulrich Mrowietz; Stefan Schreiber; Stephan Weidinger; Sulev Koks; Külli Kingo; Tonu Esko; Andres Metspalu; Henry W Lim; John J Voorhees; Michael Weichenthal; H Erich Wichmann; Vinod Chandran; Cheryl F Rosen; Proton Rahman; Dafna D Gladman; Christopher E M Griffiths; Andre Reis; Juha Kere; Rajan P Nair; Andre Franke; Jonathan N W N Barker; Goncalo R Abecasis; James T Elder; Richard C Trembath
Journal: Nat Genet Date: 2012-11-11 Impact factor: 38.330

6. Alternative splicing of CARMA2/CARD14 transcripts generates protein variants with differential effect on NF-κB activation and endoplasmic reticulum stress-induced cell death.

Authors: Ivan Scudiero; Tiziana Zotti; Angela Ferravante; Mariangela Vessichelli; Pasquale Vito; Romania Stilo
Journal: J Cell Physiol Date: 2011-12 Impact factor: 6.384

6 in total

29 in total

1. Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.

Authors: Rotraut Mössner; Yvonne Frambach; Dagmar Wilsmann-Theis; Sabine Löhr; Arnd Jacobi; Ansgar Weyergraf; Michael Müller; Sandra Philipp; Regina Renner; Heiko Traupe; Harald Burkhardt; Külli Kingo; Sulev Kõks; Steffen Uebe; Michael Sticherling; Heinrich Sticht; Vinzenz Oji; Ulrike Hüffmeier
Journal: J Invest Dermatol Date: 2015-05-19 Impact factor: 8.551

2. Identification of Two Loci Associated with Generalized Pustular Psoriasis.

Authors: Zheng Zhang; Ying Ma; Zhenghua Zhang; Jinran Lin; Guoliang Chen; Ling Han; X U Fang; Qiong Huang; Jinhua Xu
Journal: J Invest Dermatol Date: 2015-03-24 Impact factor: 8.551

Review 3. Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors: Ivona Aksentijevich; Oskar Schnappauf
Journal: Nat Rev Rheumatol Date: 2021-05-25 Impact factor: 20.543

4. IL36RN mutations underlie impetigo herpetiformis.

Authors: Kazumitsu Sugiura; Naoki Oiso; Shin Iinuma; Hiromasa Matsuda; Masako Minami-Hori; Akemi Ishida-Yamamoto; Akira Kawada; Hajime Iizuka; Masashi Akiyama
Journal: J Invest Dermatol Date: 2014-04-09 Impact factor: 8.551

5. CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts.

Authors: M Ammar; C T Jordan; L Cao; E Lim; C Bouchlaka Souissi; A Jrad; I Omrane; S Kouidhi; I Zaraa; H Anbunathan; M Mokni; N Doss; E Guttman-Yassky; A B El Gaaied; A Menter; A M Bowcock
Journal: Br J Dermatol Date: 2015-11-17 Impact factor: 9.302

6. Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.

Authors: Dorottya M Berki; Lu Liu; Siew-Eng Choon; A David Burden; Christopher E M Griffiths; Alexander A Navarini; Eugene S Tan; Alan D Irvine; Annamari Ranki; Takeshi Ogo; Gabriela Petrof; Satveer K Mahil; Michael Duckworth; Michael H Allen; Pasquale Vito; Richard C Trembath; John McGrath; Catherine H Smith; Francesca Capon; Jonathan N Barker
Journal: J Invest Dermatol Date: 2015-07-23 Impact factor: 8.551