Department of Pediatrics and Adolescent Medicine 1st Faculty of Medicine Charles University and General University Hospital Prague Czech Republic

Department of Pharmacy The University of Tokyo Hospital Tokyo Japan

Department of Rheumatology 1st Faculty of Medicine Charles University Prague Czech Republic

Institute of Rheumatology Na Slupi 4 128 50 Prague 2 Czech Republic

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Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Ikebuchi Y, et al. Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population. Sci Transl Med. 2009;1(5):5ra11. doi: 10.1126/scitranslmed.3000237. PubMed DOI

Woodward OM, Kottgen A, Coresh J, Boerwinkle E, Guggino WB, Kottgen M. Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. Proc Natl Acad Sci U S A. 2009;106(25):10338–10342. doi: 10.1073/pnas.0901249106. PubMed DOI PMC

Toyoda Y, Mancikova A, Krylov V, Morimoto K, Pavelcova K, Bohata J, et al. Functional characterization of clinically-relevant rare variants in ABCG2 identified in a gout and hyperuricemia cohort. Cells. 2019;8(4):363. doi: 10.3390/cells8040363. PubMed DOI PMC

Stiburkova B, Pavelcova K, Pavlikova M, Jesina P, Pavelka K. The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients. Arthritis Res Ther. 2019;21(1):77. doi: 10.1186/s13075-019-1860-8. PubMed DOI PMC

Manolaridis I, Jackson SM, Taylor NMI, Kowal J, Stahlberg H, Locher KP. Cryo-EM structures of a human ABCG2 mutant trapped in ATP-bound and substrate-bound states. Nature. 2018;563(7731):426–430. doi: 10.1038/s41586-018-0680-3. PubMed DOI PMC

Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout

Alterations in lipidome profiles distinguish early-onset hyperuricemia, gout, and the effect of urate-lowering treatment

Functional Characterization of Rare Variants in OAT1/SLC22A6 and OAT3/SLC22A8 Urate Transporters Identified in a Gout and Hyperuricemia Cohort

Circulating microRNA alternations in primary hyperuricemia and gout

Identification of Two Dysfunctional Variants in the ABCG2 Urate Transporter Associated with Pediatric-Onset of Familial Hyperuricemia and Early-Onset Gout