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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: matsuo h. Hum Mol Genet. 2020 Apr 15;29(6):923-943. doi: 10.1093/hmg/ddaa013. Hum Mol Genet. 2020. PMID: 31985003
Mutations in glucose transporter 9 gene SLC2A9 cause renal hypouricemia.
Matsuo H, Chiba T, Nagamori S, Nakayama A, Domoto H, Phetdee K, Wiriyasermkul P, Kikuchi Y, Oda T, Nishiyama J, Nakamura T, Morimoto Y, Kamakura K, Sakurai Y, Nonoyama S, Kanai Y, Shinomiya N. Matsuo H, et al. Am J Hum Genet. 2008 Dec;83(6):744-51. doi: 10.1016/j.ajhg.2008.11.001. Epub 2008 Nov 20. Am J Hum Genet. 2008. PMID: 19026395 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. Among authors: matsuo h. 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. Sci Rep. 2013;3:2014. doi: 10.1038/srep02014. Sci Rep. 2013. PMID: 23774753 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: matsuo 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: matsuo 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.
Common variant of leucine-rich repeat-containing 16A (LRRC16A) gene is associated with gout susceptibility.
Sakiyama M, Matsuo H, Shimizu S, Chiba T, Nakayama A, Takada Y, Nakamura T, Takada T, Morita E, Naito M, Wakai K, Inoue H, Tatsukawa S, Sato J, Shimono K, Makino T, Satoh T, Suzuki H, Kanai Y, Hamajima N, Sakurai Y, Ichida K, Shimizu T, Shinomiya N. Sakiyama M, et al. Among authors: matsuo h. Hum Cell. 2014 Jan;27(1):1-4. doi: 10.1007/s13577-013-0081-8. Epub 2013 Dec 7. Hum Cell. 2014. PMID: 24318514 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: matsuo h. Sci Rep. 2014 Jun 9;4:5227. doi: 10.1038/srep05227. Sci Rep. 2014. PMID: 24909660 Free PMC article.
2,256 results