ABCG2基因新型功能障碍变异导致重度痛风石性痛风：生化、分子遗传学及功能分析 - Suppr

Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis.

作者信息

Stiburkova Blanka, Miyata Hiroshi, Závada Jakub, Tomčík Michal, Pavelka Karel, Storkanova Gabriela, Toyoda Yu, Takada Tappei, Suzuki Hiroshi

机构信息

Institute of Rheumatology, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic and

Department of Pharmacy, University of Tokyo Hospital, Tokyo, Japan.

出版信息

Rheumatology (Oxford). 2016 Jan;55(1):191-4. doi: 10.1093/rheumatology/kev350. Epub 2015 Sep 30.

DOI:10.1093/rheumatology/kev350

PMID:26428519

Abstract

摘要

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Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis.ABCG2基因新型功能障碍变异导致重度痛风石性痛风：生化、分子遗传学及功能分析

Rheumatology (Oxford). 2016 Jan;55(1):191-4. doi: 10.1093/rheumatology/kev350. Epub 2015 Sep 30.

Joint effects of alcohol consumption and ABCG2 Q141K on chronic tophaceous gout risk.饮酒与ABCG2 Q141K基因对慢性痛风石性痛风风险的联合影响。

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Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.ABCG2 是一种高容量尿酸转运蛋白，其常见缺陷可导致痛风：基于功能的日本人群遗传分析。

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[Urate exporter gene ABCG 2/BCRP and gout risk].[尿酸盐转运体基因ABCG2/乳腺癌耐药蛋白与痛风风险]

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In vitro and in vivo evidence for the importance of breast cancer resistance protein transporters (BCRP/MXR/ABCP/ABCG2).乳腺癌耐药蛋白转运体（BCRP/MXR/ABCP/ABCG2）重要性的体外和体内证据。

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Effects of the gout-causing Q141K polymorphism and a CFTR ΔF508 mimicking mutation on the processing and stability of the ABCG2 protein.导致痛风的 Q141K 多态性和 CFTR ΔF508 模拟突变对 ABCG2 蛋白加工和稳定性的影响。

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Impact of genetic variability in the ABCG2 gene on ABCG2 expression, function, and interaction with AT1 receptor antagonist telmisartan.ABCG2 基因遗传变异对 ABCG2 表达、功能的影响及其与 AT1 受体拮抗剂替米沙坦的相互作用。

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Interaction of the p.Q141K Variant of the Gene with Clinical Data and Cytokine Levels in Primary Hyperuricemia and Gout.原发性高尿酸血症和痛风中该基因p.Q141K变异体与临床数据及细胞因子水平的相互作用

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Functional Characterization of Clinically-Relevant Rare Variants in Identified in a Gout and Hyperuricemia Cohort.鉴定出痛风和高尿酸血症队列中的临床相关罕见变异，并对其功能进行了表征。

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Inhibitors of Human ABCG2: From Technical Background to Recent Updates With Clinical Implications.人类ABCG2抑制剂：从技术背景到近期进展及其临床意义

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Multiple common and rare variants of cause gout.多种常见和罕见的变异会导致痛风。

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Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis.

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