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Genomic dissection of 43 serum urate-associated loci provides multiple insights into molecular mechanisms of urate control.
Boocock J, Leask M, Okada Y; Asian Genetic Epidemiology Network (AGEN) Consortium; Matsuo H, Kawamura Y, Shi Y, Li C, Mount DB, Mandal AK, Wang W, Cadzow M, Gosling AL, Major TJ, Horsfield JA, Choi HK, Fadason T, O'Sullivan J, Stahl EA, Merriman TR. Boocock J, et al. Among authors: kawamura y. Hum Mol Genet. 2020 Apr 15;29(6):923-943. doi: 10.1093/hmg/ddaa013. Hum Mol Genet. 2020. PMID: 31985003
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
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.
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.
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. Among authors: kawamura y. 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.
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: kawamura y. 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.
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: kawamura y. Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):536-542. doi: 10.1080/15257770.2016.1149192. Nucleosides Nucleotides Nucleic Acids. 2016. PMID: 27906618
2,437 results