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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: higashino t. 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.
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: higashino t. Rheumatology (Oxford). 2021 Nov 3;60(11):5224-5232. doi: 10.1093/rheumatology/keab327. Rheumatology (Oxford). 2021. PMID: 33821957 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: higashino t. Sci Rep. 2016 Jan 29;6:20148. doi: 10.1038/srep20148. Sci Rep. 2016. PMID: 26821810 Free PMC article. Clinical Trial.
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: higashino t. 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.
Dysfunctional missense variant of OAT10/SLC22A13 decreases gout risk and serum uric acid levels.
Higashino T, Morimoto K, Nakaoka H, Toyoda Y, Kawamura Y, Shimizu S, Nakamura T, Hosomichi K, Nakayama A, Ooyama K, Ooyama H, Shimizu T, Ueno M, Ito T, Tamura T, Naito M, Nakashima H, Kawaguchi M, Takao M, Kawai Y, Osada N, Ichida K, Yamamoto K, Suzuki H, Shinomiya N, Inoue I, Takada T, Matsuo H. Higashino T, et al. Ann Rheum Dis. 2020 Jan;79(1):164-166. doi: 10.1136/annrheumdis-2019-216044. Epub 2019 Nov 28. Ann Rheum Dis. 2020. PMID: 31780526 Free PMC article. No abstract available.
Porphyrin accumulation in humans with common dysfunctional variants of ABCG2, a porphyrin transporter: potential association with acquired photosensitivity.
Sakiyama M, Matsuo H, Toyoda Y, Yonekura Y, Ishikawa T, Nakayama A, Higashino T, Kawamura Y, Fujimoto N, Shinomiya N, Satoh T. Sakiyama M, et al. Among authors: higashino t. Hum Cell. 2021 Jul;34(4):1082-1086. doi: 10.1007/s13577-021-00534-y. Epub 2021 May 19. Hum Cell. 2021. PMID: 34009629 Free PMC article.
Increase of serum uric acid levels associated with APOE ε2 haplotype: a clinico-genetic investigation and in vivo approach.
Ogura M, Toyoda Y, Sakiyama M, Kawamura Y, Nakayama A, Yamanashi Y, Takada T, Shimizu S, Higashino T, Nakajima M, Naito M, Hishida A, Kawai S, Okada R, Sasaki M, Ayaori M, Suzuki H, Takata K, Ikewaki K, Harada-Shiba M, Shinomiya N, Matsuo H. Ogura M, et al. Among authors: higashino t. Hum Cell. 2021 Nov;34(6):1727-1733. doi: 10.1007/s13577-021-00609-w. Epub 2021 Sep 16. Hum Cell. 2021. PMID: 34532841 Free PMC article.
Common variant of PDZ domain containing 1 (PDZK1) gene is associated with gout susceptibility: A replication study and meta-analysis in Japanese population.
Higashino T, Matsuo H, Sakiyama M, Nakayama A, Nakamura T, Takada T, Ogata H, Kawamura Y, Kawaguchi M, Naito M, Kawai S, Takada Y, Ooyama H, Suzuki H, Shinomiya N. Higashino T, et al. Drug Metab Pharmacokinet. 2016 Dec;31(6):464-466. doi: 10.1016/j.dmpk.2016.07.004. Epub 2016 Jul 30. Drug Metab Pharmacokinet. 2016. PMID: 27720648 Free article.
Expression of a human NPT1/SLC17A1 missense variant which increases urate export.
Sakiyama M, Matsuo H, Nagamori S, Ling W, Kawamura Y, Nakayama A, Higashino T, Chiba T, Ichida K, Kanai Y, Shinomiya N. Sakiyama M, et al. Among authors: higashino t. Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):536-542. doi: 10.1080/15257770.2016.1149192. Nucleosides Nucleotides Nucleic Acids. 2016. PMID: 27906618
239 results