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72 results

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Page 1
A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ, Takei R, Matsuo H, Leask MP, Sumpter NA, Topless RK, Shirai Y, Wang W, Cadzow MJ, Phipps-Green AJ, Li Z, Ji A, Merriman ME, Morice E, Kelley EE, Wei WH, McCormick SPA, Bixley MJ, Reynolds RJ, Saag KG, Fadason T, Golovina E, O'Sullivan JM, Stamp LK, Dalbeth N, Abhishek A, Doherty M, Roddy E, Jacobsson LTH, Kapetanovic MC, Melander O, Andrés M, Pérez-Ruiz F, Torres RJ, Radstake T, Jansen TL, Janssen M, Joosten LAB, Liu R, Gaal OI, Crişan TO, Rednic S, Kurreeman F, Huizinga TWJ, Toes R, Lioté F, Richette P, Bardin T, Ea HK, Pascart T, McCarthy GM, Helbert L, Stibůrková B, Tausche AK, Uhlig T, Vitart V, Boutin TS, Hayward C, Riches PL, Ralston SH, Campbell A, MacDonald TM; FAST Study Group; Nakayama A, Takada T, Nakatochi M, Shimizu S, Kawamura Y, Toyoda Y, Nakaoka H, Yamamoto K, Matsuo K, Shinomiya N, Ichida K; Japan Gout Genomics Consortium; Lee C; Asia Pacific Gout Consortium; Bradbury LA, Brown MA, Robinson PC, Buchanan RRC, Hill CL, Lester S, Smith MD, Rischmueller M, Choi HK, Stahl EA, Miner JN, Solomon DH, Cui J, Giacomini KM, Brackman DJ, Jorgenson EM; GlobalGout Genetics Consortium; Liu H, Susztak K; 23andMe Research Team; Shringarpure S, So A, Okada Y, Li C,… See abstract for full author list ➔ Major TJ, et al. Among authors: stiburkova b. Nat Genet. 2024 Nov;56(11):2392-2406. doi: 10.1038/s41588-024-01921-5. Epub 2024 Oct 15. Nat Genet. 2024. PMID: 39406924
Publisher Correction: A genome-wide association analysis reveals new pathogenic pathways in gout.
Major TJ, Takei R, Matsuo H, Leask MP, Sumpter NA, Topless RK, Shirai Y, Wang W, Cadzow MJ, Phipps-Green AJ, Li Z, Ji A, Merriman ME, Morice E, Kelley EE, Wei WH, McCormick SPA, Bixley MJ, Reynolds RJ, Saag KG, Fadason T, Golovina E, O'Sullivan JM, Stamp LK, Dalbeth N, Abhishek A, Doherty M, Roddy E, Jacobsson LTH, Kapetanovic MC, Melander O, Andrés M, Pérez-Ruiz F, Torres RJ, Radstake T, Jansen TL, Janssen M, Joosten LAB, Liu R, Gaal OI, Crişan TO, Rednic S, Kurreeman F, Huizinga TWJ, Toes R, Lioté F, Richette P, Bardin T, Ea HK, Pascart T, McCarthy GM, Helbert L, Stibůrková B, Tausche AK, Uhlig T, Vitart V, Boutin TS, Hayward C, Riches PL, Ralston SH, Campbell A, MacDonald TM; FAST Study Group; Nakayama A, Takada T, Nakatochi M, Shimizu S, Kawamura Y, Toyoda Y, Nakaoka H, Yamamoto K, Matsuo K, Shinomiya N, Ichida K; Japan Gout Genomics Consortium; Lee C; Asia Pacific Gout Consortium; Bradbury LA, Brown MA, Robinson PC, Buchanan RRC, Hill CL, Lester S, Smith MD, Rischmueller M, Choi HK, Stahl EA, Miner JN, Solomon DH, Cui J, Giacomini KM, Brackman DJ, Jorgenson EM; GlobalGout Genetics Consortium; Liu H, Susztak K; 23andMe Research Team; Shringarpure S, So A, Okada Y, Li C,… See abstract for full author list ➔ Major TJ, et al. Among authors: stiburkova b. Nat Genet. 2024 Nov;56(11):2577. doi: 10.1038/s41588-024-02017-w. Nat Genet. 2024. PMID: 39501129 No abstract available.
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 Free PMC article.
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Kožich V, Schwahn BC, Sokolová J, Křížková M, Ditroi T, Krijt J, Khalil Y, Křížek T, Vaculíková-Fantlová T, Stibůrková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, García-Cazorla Á, Haack TB, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G, Nagy P. Kožich V, et al. Among authors: stiburkova b. Redox Biol. 2022 Dec;58:102517. doi: 10.1016/j.redox.2022.102517. Epub 2022 Oct 18. Redox Biol. 2022. PMID: 36306676 Free PMC article.
Interleukin-37: associations of plasma levels and genetic variants in gout.
Andres Cerezo L, Navrátilová A, Hulejová H, Pavlíková M, Závada J, Pavelka K, Šenolt L, Stiburkova B. Andres Cerezo L, et al. Among authors: stiburkova b. Arthritis Res Ther. 2023 Oct 18;25(1):203. doi: 10.1186/s13075-023-03188-3. Arthritis Res Ther. 2023. PMID: 37853488 Free PMC article.
Modern diagnostic approach to hereditary xanthinuria.
Mraz M, Hurba O, Bartl J, Dolezel Z, Marinaki A, Fairbanks L, Stiburkova B. Mraz M, et al. Among authors: stiburkova b. Urolithiasis. 2015 Feb;43(1):61-7. doi: 10.1007/s00240-014-0734-4. Epub 2014 Nov 6. Urolithiasis. 2015. PMID: 25370766
Modified forearm ischemic test in hypouricemic patients.
Sebesta I, Miyamoto D, Stiburkova B, Blahova S, Sato N, Nagata K, Okamoto K, Tsuruoka S, Ichida K. Sebesta I, et al. Among authors: stiburkova b. Nucleosides Nucleotides Nucleic Acids. 2020;39(10-12):1432-1439. doi: 10.1080/15257770.2020.1750636. Epub 2020 Apr 20. Nucleosides Nucleotides Nucleic Acids. 2020. PMID: 32312155
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
72 results