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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
Clinical practice guideline for renal hypouricemia (1st edition).
Nakayama A, Matsuo H, Ohtahara A, Ogino K, Hakoda M, Hamada T, Hosoyamada M, Yamaguchi S, Hisatome I, Ichida K, Shinomiya N. Nakayama A, et al. Among authors: matsuo h. Hum Cell. 2019 Apr;32(2):83-87. doi: 10.1007/s13577-019-00239-3. Epub 2019 Feb 19. Hum Cell. 2019. PMID: 30783949 Free PMC article. Review.
A Proposal for Practical Diagnosis of Renal Hypouricemia: Evidenced from Genetic Studies of Nonfunctional Variants of URAT1/SLC22A12 among 30,685 Japanese Individuals.
Kawamura Y, Nakayama A, Shimizu S, Toyoda Y, Nishida Y, Hishida A, Katsuura-Kamano S, Shibuya K, Tamura T, Kawaguchi M, Suzuki S, Iwasawa S, Nakashima H, Ibusuki R, Uemura H, Hara M, Takeuchi K, Takada T, Tsunoda M, Arisawa K, Takezaki T, Tanaka K, Ichida K, Wakai K, Shinomiya N, Matsuo H. Kawamura Y, et al. Among authors: matsuo h. Biomedicines. 2021 Aug 13;9(8):1012. doi: 10.3390/biomedicines9081012. Biomedicines. 2021. PMID: 34440216 Free PMC article.
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: matsuo h. Rheumatology (Oxford). 2022 Mar 2;61(3):1276-1281. doi: 10.1093/rheumatology/keab545. Rheumatology (Oxford). 2022. PMID: 34255816 Free PMC article.
Dysuricemia.
Nakayama A, Kurajoh M, Toyoda Y, Takada T, Ichida K, Matsuo H. Nakayama A, et al. Among authors: matsuo h. Biomedicines. 2023 Nov 28;11(12):3169. doi: 10.3390/biomedicines11123169. Biomedicines. 2023. PMID: 38137389 Free PMC article. Review.
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.
2,265 results