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PubMed (GeneRIF) for id: 6568

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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. Nucleosides Nucleotides Nucleic Acids. 2016 Dec;35(10-12):536-542. doi: 10.1080/15257770.2016.1149192. Nucleosides Nucleotides Nucleic Acids. 2016. PMID: 27906618
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. 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.
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. Arthritis Rheumatol. 2015 Jan;67(1):281-7. doi: 10.1002/art.38884. Arthritis Rheumatol. 2015. PMID: 25252215
The renal urate transporter SLC17A1 locus: confirmation of association with gout.
Hollis-Moffatt JE, Phipps-Green AJ, Chapman B, Jones GT, van Rij A, Gow PJ, Harrison AA, Highton J, Jones PB, Montgomery GW, Stamp LK, Dalbeth N, Merriman TR. Hollis-Moffatt JE, et al. Arthritis Res Ther. 2012 Apr 27;14(2):R92. doi: 10.1186/ar3816. Arthritis Res Ther. 2012. PMID: 22541845 Free PMC article.
20 results