Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis

Kochi Yuta; Kamatani Yoichiro; Kondo Yuya; Suzuki Akari; Kawakami Eiryo; Hiwa Ryosuke; Momozawa Yukihide; Fujimoto Manabu; Jinnin Masatoshi; Tanaka Yoshiya; Kanda Takashi; Cooper Robert G.; Chinoy Hector; Rothwell Simon; Lamb Janine A.; Vencovsky Jiri; Mann Herman; Ohmura Koichiro; Myouzen Keiko; Ishigaki Kazuyoshi; Nakashima Ran; Hosono Yuji; Tsuboi Hiroto; Kawasumi Hidenaga; Iwasaki Yukiko; Kajiyama Hiroshi; Horita Tetsuya; Ogawa-Momohara Mariko; Takamura Akito; Tsunoda Shinichiro; Shimizu Jun; Fujio Keishi; Amano Hirofumi; Mimori Akio; Kawakami Atsushi; Umehara Hisanori; Takeuchi Tsutomu; Sano Hajime; Muro Yoshinao; Atsumi Tatsuya; Mimura Toshihide; Kawaguchi Yasushi; Mimori Tsuneyo; Takahashi Atsushi; Kubo Michiaki; Kohsaka Hitoshi; Sumida Takayuki; Yamamoto Kazuhiko

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Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis

机译：WDFY4的拼接变体增强MDA5信号传导和临床肺病性皮肤病的风险

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Objectives Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases in which both genetic and environmental factors play important roles. To identify genetic factors of IIM including polymyositis, dermatomyositis (DM) and clinically amyopathic DM (CADM), we performed the first genome-wide association study for IIM in an Asian population.

机译：目标特发性炎症性肌病（IIMS）是一种异质的罕见自身免疫疾病，其中遗传和环境因素都发挥着重要作用。为了鉴定IIM的遗传因素，包括多发性肌炎，皮质肌炎（DM）和临床症状DM（CADM），我们在亚洲人群中对IIM进行了第一个基因组关联研究。

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来源
《Annals of the Rheumatic Diseases: A Journal of Clinical Rheumatology and Connective Tissue Research》 |2018年第4期|共10页
作者
Kochi Yuta; Kamatani Yoichiro; Kondo Yuya; Suzuki Akari; Kawakami Eiryo; Hiwa Ryosuke; Momozawa Yukihide; Fujimoto Manabu; Jinnin Masatoshi; Tanaka Yoshiya; Kanda Takashi; Cooper Robert G.; Chinoy Hector; Rothwell Simon; Lamb Janine A.; Vencovsky Jiri; Mann Herman; Ohmura Koichiro; Myouzen Keiko; Ishigaki Kazuyoshi; Nakashima Ran; Hosono Yuji; Tsuboi Hiroto; Kawasumi Hidenaga; Iwasaki Yukiko; Kajiyama Hiroshi; Horita Tetsuya; Ogawa-Momohara Mariko; Takamura Akito; Tsunoda Shinichiro; Shimizu Jun; Fujio Keishi; Amano Hirofumi; Mimori Akio; Kawakami Atsushi; Umehara Hisanori; Takeuchi Tsutomu; Sano Hajime; Muro Yoshinao; Atsumi Tatsuya; Mimura Toshihide; Kawaguchi Yasushi; Mimori Tsuneyo; Takahashi Atsushi; Kubo Michiaki; Kohsaka Hitoshi; Sumida Takayuki; Yamamoto Kazuhiko;
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作者单位

RIKEN Ctr Integrat Med Sci Lab Autoimmune Dis Yokohama Kanagawa Japan;

RIKEN Ctr Integrat Med Sci Lab Stat Anal Yokohama Kanagawa Japan;

Univ Tsukuba Dept Internal Med Fac Med Tsukuba Ibaraki Japan;

RIKEN Ctr Integrat Med Sci Lab Autoimmune Dis Yokohama Kanagawa Japan;

RIKEN Ctr Integrated Med Sci Lab Dis Syst Modeling Yokohama Kanagawa Japan;

Kyoto Univ Dept Rheumatol &

Clin Immunol Grad Sch Med Kyoto Japan;

RIKEN Ctr Integrat Med Sci Lab Genotyping Dev Yokohama Kanagawa Japan;

Kanazawa Univ Inst Med Pharmaceut &

Hlth Sci Dept Dermatol Fac Med Kanazawa Ishikawa Japan;

Kumamoto Univ Dept Dermatol &

Plast Surg Fac Life Sci Kumamoto Japan;

Univ Occupat &

Environm Hlth Dept Internal Med 1 Kitakyushu Fukuoka Japan;

Yamaguchi Univ Dept Neurol &

Clin Neurosci Ube Yamaguchi Japan;

Univ Liverpool MRC ARUK Inst Ageing &

Chron Dis Liverpool Merseyside England;

Salford Royal NHS Fdn Trust Manchester Acad Hlth Sci Ctr Rheumatol Dept Salford Lancs England;

Univ Manchester Manchester Acad Hlth Sci Ctr Cent Manchester Univ Hosp NHS Fdn Trust Natl Inst;

Univ Manchester Manchester Acad Hlth Sci Ctr Div Populat Hlth Hlth Serv Res &

Primary Care Sch;

Charles Univ Prague Inst Rheumatol Prague Czech Republic;

Charles Univ Prague Inst Rheumatol Prague Czech Republic;

Kyoto Univ Dept Rheumatol &

Clin Immunol Grad Sch Med Kyoto Japan;

RIKEN Ctr Integrat Med Sci Lab Autoimmune Dis Yokohama Kanagawa Japan;

RIKEN Ctr Integrat Med Sci Lab Stat Anal Yokohama Kanagawa Japan;

Kyoto Univ Dept Rheumatol &

Clin Immunol Grad Sch Med Kyoto Japan;

Kyoto Univ Dept Rheumatol &

Clin Immunol Grad Sch Med Kyoto Japan;

Univ Tsukuba Dept Internal Med Fac Med Tsukuba Ibaraki Japan;

Tokyo Womens Med Univ Inst Rheumatol Tokyo Japan;

Univ Tokyo Grad Sch Med Dept Allergy &

Rheumatol Tokyo Japan;

Saitama Med Univ Fac Med Dept Rheumatol &

Appl Immunol Saitama Japan;

Hokkaido Univ Fac Med Dept Rheumatol Endocrinol &

Nephrol Sapporo Hokkaido Japan;

Nagoya Univ Grad Sch Med Dept Dermatol Nagoya Aichi Japan;

Tokyo Med &

Dent Univ Grad Sch Med &

Dent Sci Dept Rheumatol Tokyo Japan;

Hyogo Coll Med Dept Internal Med Div Rheumatol Nishinomiya Hyogo Japan;

Univ Tokyo Grad Sch Med Dept Neurol Tokyo Japan;

Univ Tokyo Grad Sch Med Dept Allergy &

Rheumatol Tokyo Japan;

Juntendo Univ Sch Med Dept Internal Med &

Rheumatol Tokyo Japan;

Natl Ctr Global Hlth &

Med Div Rheumat Dis Tokyo Japan;

Nagasaki Univ Grad Sch Biomed Sci Dept Immunol &

Rheumatol Unit Adv Prevent Med Sci Nagasaki;

Kanazawa Med Univ Dept Hematol &

Immunol Kanazawa Ishikawa Japan;

Keio Univ Sch Med Dept Internal Med Div Rheumatol Tokyo Japan;

Hyogo Coll Med Dept Internal Med Div Rheumatol Nishinomiya Hyogo Japan;

Nagoya Univ Grad Sch Med Dept Dermatol Nagoya Aichi Japan;

Hokkaido Univ Fac Med Dept Rheumatol Endocrinol &

Nephrol Sapporo Hokkaido Japan;

Saitama Med Univ Fac Med Dept Rheumatol &

Appl Immunol Saitama Japan;

Tokyo Womens Med Univ Inst Rheumatol Tokyo Japan;

Kyoto Univ Dept Rheumatol &

Clin Immunol Grad Sch Med Kyoto Japan;

RIKEN Ctr Integrat Med Sci Lab Stat Anal Yokohama Kanagawa Japan;

RIKEN Ctr Integrat Med Sci Lab Genotyping Dev Yokohama Kanagawa Japan;

Tokyo Med &

Dent Univ Grad Sch Med &

Dent Sci Dept Rheumatol Tokyo Japan;

Univ Tsukuba Dept Internal Med Fac Med Tsukuba Ibaraki Japan;

RIKEN Ctr Integrat Med Sci Lab Autoimmune Dis Yokohama Kanagawa Japan;

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原文格式 PDF
正文语种 eng
中图分类免疫性疾病;
关键词
dermatomyositis; polymyositis; gene polymorphism; autoimmunity;

机译：Dermatomyositis;聚肌炎;基因多态性;自身免疫;

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专利

1. Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis [J] . Kochi Yuta, Kamatani Yoichiro, Kondo Yuya, Annals of the Rheumatic Diseases: A Journal of Clinical Rheumatology and Connective Tissue Research . 2018,第4期

机译：WDFY4的拼接变体增强MDA5信号传导和临床肺病性皮肤病的风险
2. MDA5 Positive Clinical Amyopathic Dermatomyositis (CADM): A Single Centre Case Series of 10 Patients [J] . Huang Kun, Shojania Kamran, Yeung James, The Journal of rheumatology . 2018,第7期

机译：MDA5阳性临床锥形大鼠皮肤病（CADM）：10名患者的单一中心盒系列
3. Serum cytokine profiles of patients with interstitial lung disease associated with anti-CADM-140/MDA5 antibody positive amyopathic dermatomyositis [J] . Takada Toshinori, Aoki Ami, Asakawa Katsuaki, Respiratory medicine . 2015,第9期

机译：间质性肺疾病与抗CADM-140 / MDA5抗体阳性的肌病性皮肌炎相关的患者血清细胞因子谱
4. An autoimmune disease-associated CTLA4 splice variant lacking the B7 binding domain signals negatively in T cells [C] . Lalitha Vijayakrishnan, Jacqueline M. Slavik, Zsolt Illes, Symposium on Genetics of Autoimmunity . 2005

机译：一种自身免疫疾病相关的CTLA4接头变体缺乏B7结合域在T细胞中产生负面信号
5. Characterization of the biochemical, signaling and functional properties of Rac1b, a splice variant of Rac1 GTPase. [D] . Nyako, Marian Agyiriwa. 2007

机译：Rac1b，Rac1 GTPase的剪接变体的生化，信号传导和功能特性的表征。
6. Risk factors of interstitial lung diseases in clinically amyopathic dermatomyositis [O] . Yu-Zhou Gan, Li-Hua Zhang, Lin Ma, 2020

机译：临床上的肌病性皮肌炎的间质性肺疾病的危险因素
7. Splicing variant of WDFY4 augments MDA5 signaling and the risk of clinically amyopathic dermatomyositis [O] . Chinoy, Hector, Rothwell, Simon, Lamb, Janine, 2018

机译：WDFY4的剪接变体增加mDa5信号传导和临床上肌病性皮肌炎的风险

Splicing variant of WDFY4 augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis

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