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Page 1
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: kawamura y. Rheumatology (Oxford). 2022 Mar 2;61(3):1276-1281. doi: 10.1093/rheumatology/keab545. Rheumatology (Oxford). 2022. PMID: 34255816 Free PMC article.
Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2).
Kawamura Y, Matsuo H, Chiba T, Nagamori S, Nakayama A, Inoue H, Utsumi Y, Oda T, Nishiyama J, Kanai Y, Shinomiya N. Kawamura Y, et al. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1105-11. doi: 10.1080/15257770.2011.623685. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132964
Decreased extra-renal urate excretion is a common cause of hyperuricemia.
Ichida K, Matsuo H, Takada T, Nakayama A, Murakami K, Shimizu T, Yamanashi Y, Kasuga H, Nakashima H, Nakamura T, Takada Y, Kawamura Y, Inoue H, Okada C, Utsumi Y, Ikebuchi Y, Ito K, Nakamura M, Shinohara Y, Hosoyamada M, Sakurai Y, Shinomiya N, Hosoya T, Suzuki H. Ichida K, et al. Among authors: kawamura y. Nat Commun. 2012 Apr 3;3:764. doi: 10.1038/ncomms1756. Nat Commun. 2012. PMID: 22473008 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: kawamura y. Sci Rep. 2013;3:2014. doi: 10.1038/srep02014. Sci Rep. 2013. PMID: 23774753 Free PMC article.
ABCG2 dysfunction causes hyperuricemia due to both renal urate underexcretion and renal urate overload.
Matsuo H, Nakayama A, Sakiyama M, Chiba T, Shimizu S, Kawamura Y, Nakashima H, Nakamura T, Takada Y, Oikawa Y, Takada T, Nakaoka H, Abe J, Inoue H, Wakai K, Kawai S, Guang Y, Nakagawa H, Ito T, Niwa K, Yamamoto K, Sakurai Y, Suzuki H, Hosoya T, Ichida K, Shimizu T, Shinomiya N. Matsuo H, et al. Among authors: kawamura y. Sci Rep. 2014 Jan 20;4:3755. doi: 10.1038/srep03755. Sci Rep. 2014. PMID: 24441388 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: kawamura y. Sci Rep. 2014 Jun 9;4:5227. doi: 10.1038/srep05227. Sci Rep. 2014. PMID: 24909660 Free PMC article.
NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout.
Chiba T, Matsuo H, Kawamura Y, Nagamori S, Nishiyama T, Wei L, Nakayama A, Nakamura T, Sakiyama M, Takada T, Taketani Y, Suma S, Naito M, Oda T, Kumagai H, Moriyama Y, Ichida K, Shimizu T, Kanai Y, Shinomiya N. Chiba T, et al. Among authors: kawamura y. Arthritis Rheumatol. 2015 Jan;67(1):281-7. doi: 10.1002/art.38884. Arthritis Rheumatol. 2015. PMID: 25252215
Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes.
Matsuo H, Yamamoto K, Nakaoka H, Nakayama A, Sakiyama M, Chiba T, Takahashi A, Nakamura T, Nakashima H, Takada Y, Danjoh I, Shimizu S, Abe J, Kawamura Y, Terashige S, Ogata H, Tatsukawa S, Yin G, Okada R, Morita E, Naito M, Tokumasu A, Onoue H, Iwaya K, Ito T, Takada T, Inoue K, Kato Y, Nakamura Y, Sakurai Y, Suzuki H, Kanai Y, Hosoya T, Hamajima N, Inoue I, Kubo M, Ichida K, Ooyama H, Shimizu T, Shinomiya N. Matsuo H, et al. Among authors: kawamura y. Ann Rheum Dis. 2016 Apr;75(4):652-9. doi: 10.1136/annrheumdis-2014-206191. Epub 2015 Feb 2. Ann Rheum Dis. 2016. PMID: 25646370 Free PMC article.
ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout.
Matsuo H, Tomiyama H, Satake W, Chiba T, Onoue H, Kawamura Y, Nakayama A, Shimizu S, Sakiyama M, Funayama M, Nishioka K, Shimizu T, Kaida K, Kamakura K, Toda T, Hattori N, Shinomiya N. Matsuo H, et al. Among authors: kawamura y. Ann Clin Transl Neurol. 2015 Mar;2(3):302-6. doi: 10.1002/acn3.167. Epub 2015 Jan 19. Ann Clin Transl Neurol. 2015. PMID: 25815357 Free PMC article.
2,493 results