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Page 1
Association of Gout Polygenic Risk Score With Age at Disease Onset and Tophaceous Disease in European and Polynesian Men With Gout.
Sumpter NA, Takei R, Cadzow M, Topless RKG, Phipps-Green AJ, Murphy R, de Zoysa J, Watson H, Qasim M, Lupi AS, Abhishek A, Andrés M, Crișan TO, Doherty M, Jacobsson L, Janssen M, Jansen TL, Joosten LAB, Kapetanovic M, Lioté F, Matsuo H, McCarthy GM, Perez-Ruiz F, Riches P, Richette P, Roddy E, Stiburkova B, So A, Tausche AK, Torres RJ, Uhlig T, Major TJ, Stamp LK, Dalbeth N, Choi HK, Vazquez AI, Leask MP, Reynolds RJ, Merriman TR. Sumpter NA, et al. Among authors: stiburkova b. Arthritis Rheumatol. 2023 May;75(5):816-825. doi: 10.1002/art.42393. Epub 2023 Mar 25. Arthritis Rheumatol. 2023. PMID: 36281732
GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes.
Nakayama A, Nakaoka H, Yamamoto K, Sakiyama M, Shaukat A, Toyoda Y, Okada Y, Kamatani Y, Nakamura T, Takada T, Inoue K, Yasujima T, Yuasa H, Shirahama Y, Nakashima H, Shimizu S, Higashino T, Kawamura Y, Ogata H, Kawaguchi M, Ohkawa Y, Danjoh I, Tokumasu A, Ooyama K, Ito T, Kondo T, Wakai K, Stiburkova B, Pavelka K, Stamp LK, Dalbeth N; Eurogout Consortium; Sakurai Y, Suzuki H, Hosoyamada M, Fujimori S, Yokoo T, Hosoya T, Inoue I, Takahashi A, Kubo M, Ooyama H, Shimizu T, Ichida K, Shinomiya N, Merriman TR, Matsuo H; Eurogout Consortium. Nakayama A, et al. Among authors: stiburkova b. Ann Rheum Dis. 2017 May;76(5):869-877. doi: 10.1136/annrheumdis-2016-209632. Epub 2016 Nov 29. Ann Rheum Dis. 2017. PMID: 27899376 Free PMC article.
Functional non-synonymous variants of ABCG2 and gout risk.
Stiburkova B, Pavelcova K, Zavada J, Petru L, Simek P, Cepek P, Pavlikova M, Matsuo H, Merriman TR, Pavelka K. Stiburkova B, et al. Rheumatology (Oxford). 2017 Nov 1;56(11):1982-1992. doi: 10.1093/rheumatology/kex295. Rheumatology (Oxford). 2017. PMID: 28968913
Multiple common and rare variants of ABCG2 cause gout.
Higashino T, Takada T, Nakaoka H, Toyoda Y, Stiburkova B, Miyata H, Ikebuchi Y, Nakashima H, Shimizu S, Kawaguchi M, Sakiyama M, Nakayama A, Akashi A, Tanahashi Y, Kawamura Y, Nakamura T, Wakai K, Okada R, Yamamoto K, Hosomichi K, Hosoya T, Ichida K, Ooyama H, Suzuki H, Inoue I, Merriman TR, Shinomiya N, Matsuo H. Higashino T, et al. Among authors: stiburkova b. RMD Open. 2017 Aug 29;3(2):e000464. doi: 10.1136/rmdopen-2017-000464. eCollection 2017. RMD Open. 2017. PMID: 29225919 Free PMC article.
Subtype-specific gout susceptibility loci and enrichment of selection pressure on ABCG2 and ALDH2 identified by subtype genome-wide meta-analyses of clinically defined gout patients.
Nakayama A, Nakatochi M, Kawamura Y, Yamamoto K, Nakaoka H, Shimizu S, Higashino T, Koyama T, Hishida A, Kuriki K, Watanabe M, Shimizu T, Ooyama K, Ooyama H, Nagase M, Hidaka Y, Matsui D, Tamura T, Nishiyama T, Shimanoe C, Katsuura-Kamano S, Takashima N, Shirai Y, Kawaguchi M, Takao M, Sugiyama R, Takada Y, Nakamura T, Nakashima H, Tsunoda M, Danjoh I, Hozawa A, Hosomichi K, Toyoda Y, Kubota Y, Takada T, Suzuki H, Stiburkova B, Major TJ, Merriman TR, Kuriyama N, Mikami H, Takezaki T, Matsuo K, Suzuki S, Hosoya T, Kamatani Y, Kubo M, Ichida K, Wakai K, Inoue I, Okada Y, Shinomiya N, Matsuo H; Japan Gout Genomics Consortium (Japan Gout). Nakayama A, et al. Among authors: stiburkova b. Ann Rheum Dis. 2020 May;79(5):657-665. doi: 10.1136/annrheumdis-2019-216644. Epub 2020 Apr 1. Ann Rheum Dis. 2020. PMID: 32238385 Free PMC article.
Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome.
Stiburkova B, Pavelcova K, Belickova M, Magaziner SJ, Collins JC, Werner A, Beck DB, Balajkova V, Salek C, Vostry M, Mann H, Vencovsky J. Stiburkova B, et al. Arthritis Rheumatol. 2023 Jul;75(7):1285-1290. doi: 10.1002/art.42471. Epub 2023 May 11. Arthritis Rheumatol. 2023. PMID: 36762418
69 results