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Expression of ASC splice variant found in Japanese patients with palindromic rheumatism is regulated by rs8056505 single nucleotide polymorphism and interleukin-1 beta.
Asian Pacific Journal of Allergy and Immunology ( IF 5 ) Pub Date : 2022-08-22 , DOI: 10.12932/ap-010322-1339
Masaya Hattori 1 , Atsuko Yabuuchi 1 , Hayate Tanaka 1 , Taketo Kawara 1 , Hongyan Wang 1 , Koji Inoue 2 , Shunichi Shiozawa 3 , Koichiro Komai 1
Affiliation  

Palindromic rheumatism (PR) is an infrequent form of periodic arthritis. Based on the similarity of the pathogenesis of PR to autoinflammatory syndromes, we previously found that the dominant-active splice variant of the inflammasome adaptor protein, apoptosis-associated speck-like protein containing a CARD (ASC), which lacks exon 2 (Δexon2), is expressed in Japanese patients with PR.

中文翻译:

在日本回文风湿病患者中发现的 ASC 剪接变体的表达受 rs8056505 单核苷酸多态性和白细胞介素 1 β 的调节。

回文风湿病 (PR) 是一种罕见的周期性关节炎。基于 PR 发病机制与自身炎症综合征的相似性,我们之前发现炎症小体衔接蛋白的显性活性剪接变体,即含有 CARD (ASC) 的凋亡相关斑点样蛋白,其缺乏外显子 2 (Δexon2) , 在日本 PR 患者中表达。
更新日期:2022-08-22
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