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Genetic epidemiological analysis of hypouricaemia from 4993 Japanese on non-functional variants of URAT1/SLC22A12 gene.
Nakayama A, Kawamura Y, Toyoda Y, Shimizu S, Kawaguchi M, Aoki Y, Takeuchi K, Okada R, Kubo Y, Imakiire T, Iwasawa S, Nakashima H, Tsunoda M, Ito K, Kumagai H, Takada T, Ichida K, Shinomiya N, Matsuo H. Nakayama A, et al. Among authors: shinomiya n. Rheumatology (Oxford). 2022 Mar 2;61(3):1276-1281. doi: 10.1093/rheumatology/keab545. Rheumatology (Oxford). 2022. PMID: 34255816 Free PMC article.
The effects of URAT1/SLC22A12 nonfunctional variants, R90H and W258X, on serum uric acid levels and gout/hyperuricemia progression.
Sakiyama M, Matsuo H, Shimizu S, Nakashima H, Nakamura T, Nakayama A, Higashino T, Naito M, Suma S, Hishida A, Satoh T, Sakurai Y, Takada T, Ichida K, Ooyama H, Shimizu T, Shinomiya N. Sakiyama M, et al. Among authors: shinomiya n. Sci Rep. 2016 Jan 29;6:20148. doi: 10.1038/srep20148. Sci Rep. 2016. PMID: 26821810 Free PMC article. Clinical Trial.
Substantial anti-gout effect conferred by common and rare dysfunctional variants of URAT1/SLC22A12.
Toyoda Y, Kawamura Y, Nakayama A, Nakaoka H, Higashino T, Shimizu S, Ooyama H, Morimoto K, Uchida N, Shigesawa R, Takeuchi K, Inoue I, Ichida K, Suzuki H, Shinomiya N, Takada T, Matsuo H. Toyoda Y, et al. Among authors: shinomiya n. Rheumatology (Oxford). 2021 Nov 3;60(11):5224-5232. doi: 10.1093/rheumatology/keab327. Rheumatology (Oxford). 2021. PMID: 33821957 Free PMC article.
A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals.
Kawamura Y, Nakayama A, Shimizu S, Toyoda Y, Nishida Y, Hishida A, Katsuura-Kamano S, Shibuya K, Tamura T, Kawaguchi M, Suzuki S, Iwasawa S, Nakashima H, Ibusuki R, Uemura H, Hara M, Takeuchi K, Takada T, Tsunoda M, Arisawa K, Takezaki T, Tanaka K, Ichida K, Wakai K, Shinomiya N, Matsuo H. Kawamura Y, et al. Among authors: shinomiya n. Biomedicines. 2021 Aug 13;9(8):1012. doi: 10.3390/biomedicines9081012. Biomedicines. 2021. PMID: 34440216 Free PMC article.
First clinical practice guideline for renal hypouricaemia: a rare disorder that aided the development of urate-lowering drugs for gout.
Nakayama A, Matsuo H, Abhishek A, Ichida K, Shinomiya N; members of Guideline Development Committee of Clinical Practice Guideline for Renal Hypouricaemia. Nakayama A, et al. Among authors: shinomiya n. Rheumatology (Oxford). 2021 Sep 1;60(9):3961-3963. doi: 10.1093/rheumatology/keab322. Rheumatology (Oxford). 2021. PMID: 34469572 No abstract available.
Identification of a dysfunctional splicing mutation in the SLC22A12/URAT1 gene causing renal hypouricaemia type 1: a report on two families.
Kawamura Y, Toyoda Y, Ohnishi T, Hisatomi R, Higashino T, Nakayama A, Shimizu S, Yanagi M, Kamimaki I, Fujimaru R, Suzuki H, Shinomiya N, Takada T, Matsuo H. Kawamura Y, et al. Among authors: shinomiya n. Rheumatology (Oxford). 2020 Dec 1;59(12):3988-3990. doi: 10.1093/rheumatology/keaa461. Rheumatology (Oxford). 2020. PMID: 33011794 Free PMC article. No abstract available.
Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.
Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Ikebuchi Y, Ito K, Kusanagi Y, Chiba T, Tadokoro S, Takada Y, Oikawa Y, Inoue H, Suzuki K, Okada R, Nishiyama J, Domoto H, Watanabe S, Fujita M, Morimoto Y, Naito M, Nishio K, Hishida A, Wakai K, Asai Y, Niwa K, Kamakura K, Nonoyama S, Sakurai Y, Hosoya T, Kanai Y, Suzuki H, Hamajima N, Shinomiya N. Matsuo H, et al. Among authors: shinomiya n. Sci Transl Med. 2009 Nov 4;1(5):5ra11. doi: 10.1126/scitranslmed.3000237. Sci Transl Med. 2009. PMID: 20368174
ABCG2/BCRP dysfunction as a major cause of gout.
Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Suzuki H, Hosoya T, Shinomiya N. Matsuo H, et al. Among authors: shinomiya n. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1117-28. doi: 10.1080/15257770.2011.633954. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132966
248 results