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Page 1
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. Among authors: nakayama a. 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.
Common defects of ABCG2, a high-capacity urate exporter, cause gout: a function-based genetic analysis in a Japanese population.
Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Ikebuchi Y, Ito K, Kusanagi Y, Chiba T, Tadokoro S, Takada Y, Oikawa Y, Inoue H, Suzuki K, Okada R, Nishiyama J, Domoto H, Watanabe S, Fujita M, Morimoto Y, Naito M, Nishio K, Hishida A, Wakai K, Asai Y, Niwa K, Kamakura K, Nonoyama S, Sakurai Y, Hosoya T, Kanai Y, Suzuki H, Hamajima N, Shinomiya N. Matsuo H, et al. Among authors: nakayama a. Sci Transl Med. 2009 Nov 4;1(5):5ra11. doi: 10.1126/scitranslmed.3000237. Sci Transl Med. 2009. PMID: 20368174
Identification of ABCG2 dysfunction as a major factor contributing to gout.
Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Takada Y, Okada C, Sakurai Y, Hosoya T, Kanai Y, Suzuki H, Shinomiya N. Matsuo H, et al. Among authors: nakayama a. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1098-104. doi: 10.1080/15257770.2011.627902. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132963
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: nakayama a. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1105-11. doi: 10.1080/15257770.2011.623685. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132964
ABCG2/BCRP dysfunction as a major cause of gout.
Matsuo H, Takada T, Ichida K, Nakamura T, Nakayama A, Suzuki H, Hosoya T, Shinomiya N. Matsuo H, et al. Among authors: nakayama a. Nucleosides Nucleotides Nucleic Acids. 2011 Dec;30(12):1117-28. doi: 10.1080/15257770.2011.633954. Nucleosides Nucleotides Nucleic Acids. 2011. PMID: 22132966
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: nakayama a. 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: nakayama a. Sci Rep. 2013;3:2014. doi: 10.1038/srep02014. Sci Rep. 2013. PMID: 23774753 Free PMC article.
854 results