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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: nakashima h. Biomedicines. 2021 Aug 13;9(8):1012. doi: 10.3390/biomedicines9081012. Biomedicines. 2021. PMID: 34440216 Free PMC article.
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: nakashima h. Rheumatology (Oxford). 2022 Mar 2;61(3):1276-1281. doi: 10.1093/rheumatology/keab545. Rheumatology (Oxford). 2022. PMID: 34255816 Free PMC article.
Common dysfunctional variants in ABCG2 are a major cause of early-onset gout.
Matsuo H, Ichida K, Takada T, Nakayama A, Nakashima H, Nakamura T, Kawamura Y, Takada Y, Yamamoto K, Inoue H, Oikawa Y, Naito M, Hishida A, Wakai K, Okada C, Shimizu S, Sakiyama M, Chiba T, Ogata H, Niwa K, Hosoyamada M, Mori A, Hamajima N, Suzuki H, Kanai Y, Sakurai Y, Hosoya T, Shimizu T, Shinomiya N. Matsuo H, et al. Among authors: nakashima h. Sci Rep. 2013;3:2014. doi: 10.1038/srep02014. Sci Rep. 2013. PMID: 23774753 Free PMC article.
Common dysfunctional variants of ABCG2 have stronger impact on hyperuricemia progression than typical environmental risk factors.
Nakayama A, Matsuo H, Nakaoka H, Nakamura T, Nakashima H, Takada Y, Oikawa Y, Takada T, Sakiyama M, Shimizu S, Kawamura Y, Chiba T, Abe J, Wakai K, Kawai S, Okada R, Tamura T, Shichijo Y, Akashi A, Suzuki H, Hosoya T, Sakurai Y, Ichida K, Shinomiya N. Nakayama A, et al. Among authors: nakashima h. Sci Rep. 2014 Jun 9;4:5227. doi: 10.1038/srep05227. Sci Rep. 2014. PMID: 24909660 Free PMC article.
ABCG2 dysfunction increases the risk of renal overload hyperuricemia.
Matsuo H, Takada T, Nakayama A, Shimizu T, Sakiyama M, Shimizu S, Chiba T, Nakashima H, Nakamura T, Takada Y, Sakurai Y, Hosoya T, Shinomiya N, Ichida K. Matsuo H, et al. Among authors: nakashima h. Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):266-74. doi: 10.1080/15257770.2013.866679. Nucleosides Nucleotides Nucleic Acids. 2014. PMID: 24940678
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: nakashima h. Sci Rep. 2016 Jan 29;6:20148. doi: 10.1038/srep20148. Sci Rep. 2016. PMID: 26821810 Free PMC article. Clinical Trial.
Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.
Nakatochi M, Kanai M, Nakayama A, Hishida A, Kawamura Y, Ichihara S, Akiyama M, Ikezaki H, Furusyo N, Shimizu S, Yamamoto K, Hirata M, Okada R, Kawai S, Kawaguchi M, Nishida Y, Shimanoe C, Ibusuki R, Takezaki T, Nakajima M, Takao M, Ozaki E, Matsui D, Nishiyama T, Suzuki S, Takashima N, Kita Y, Endoh K, Kuriki K, Uemura H, Arisawa K, Oze I, Matsuo K, Nakamura Y, Mikami H, Tamura T, Nakashima H, Nakamura T, Kato N, Matsuda K, Murakami Y, Matsubara T, Naito M, Kubo M, Kamatani Y, Shinomiya N, Yokota M, Wakai K, Okada Y, Matsuo H. Nakatochi M, et al. Among authors: nakashima h. Commun Biol. 2019 Apr 8;2:115. doi: 10.1038/s42003-019-0339-0. eCollection 2019. Commun Biol. 2019. PMID: 30993211 Free PMC article.
Genome-wide association study revealed novel loci which aggravate asymptomatic hyperuricaemia into gout.
Kawamura Y, Nakaoka H, Nakayama A, Okada Y, Yamamoto K, Higashino T, Sakiyama M, Shimizu T, Ooyama H, Ooyama K, Nagase M, Hidaka Y, Shirahama Y, Hosomichi K, Nishida Y, Shimoshikiryo I, Hishida A, Katsuura-Kamano S, Shimizu S, Kawaguchi M, Uemura H, Ibusuki R, Hara M, Naito M, Takao M, Nakajima M, Iwasawa S, Nakashima H, Ohnaka K, Nakamura T, Stiburkova B, Merriman TR, Nakatochi M, Ichihara S, Yokota M, Takada T, Saitoh T, Kamatani Y, Takahashi A, Arisawa K, Takezaki T, Tanaka K, Wakai K, Kubo M, Hosoya T, Ichida K, Inoue I, Shinomiya N, Matsuo H. Kawamura Y, et al. Among authors: nakashima h. Ann Rheum Dis. 2019 Oct;78(10):1430-1437. doi: 10.1136/annrheumdis-2019-215521. Epub 2019 Jul 8. Ann Rheum Dis. 2019. PMID: 31289104 Free PMC article.
Common missense variant of monocarboxylate transporter 9 (MCT9/SLC16A9) gene is associated with renal overload gout, but not with all gout susceptibility.
Nakayama A, Matsuo H, Shimizu T, Ogata H, Takada Y, Nakashima H, Nakamura T, Shimizu S, Chiba T, Sakiyama M, Ushiyama C, Takada T, Inoue K, Kawai S, Hishida A, Wakai K, Hamajima N, Ichida K, Sakurai Y, Kato Y, Shimizu T, Shinomiya N. Nakayama A, et al. Among authors: nakashima h. Hum Cell. 2013 Dec;26(4):133-6. doi: 10.1007/s13577-013-0073-8. Epub 2013 Aug 29. Hum Cell. 2013. PMID: 23990105 Free PMC article.
A common variant of organic anion transporter 4 (OAT4/SLC22A11) gene is associated with renal underexcretion type gout.
Sakiyama M, Matsuo H, Shimizu S, Nakashima H, Nakayama A, Chiba T, Naito M, Takada T, Suzuki H, Hamajima N, Ichida K, Shimizu T, Shinomiya N. Sakiyama M, et al. Among authors: nakashima h. Drug Metab Pharmacokinet. 2014;29(2):208-10. doi: 10.2133/dmpk.dmpk-13-nt-070. Epub 2013 Sep 10. Drug Metab Pharmacokinet. 2014. PMID: 24025986 Free article.
1,885 results