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Page 1
SLC2A9 influences uric acid concentrations with pronounced sex-specific effects.
Döring A, Gieger C, Mehta D, Gohlke H, Prokisch H, Coassin S, Fischer G, Henke K, Klopp N, Kronenberg F, Paulweber B, Pfeufer A, Rosskopf D, Völzke H, Illig T, Meitinger T, Wichmann HE, Meisinger C. Döring A, et al. Nat Genet. 2008 Apr;40(4):430-6. doi: 10.1038/ng.107. Epub 2008 Mar 9. Nat Genet. 2008. PMID: 18327256
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout.
Vitart V, Rudan I, Hayward C, Gray NK, Floyd J, Palmer CN, Knott SA, Kolcic I, Polasek O, Graessler J, Wilson JF, Marinaki A, Riches PL, Shu X, Janicijevic B, Smolej-Narancic N, Gorgoni B, Morgan J, Campbell S, Biloglav Z, Barac-Lauc L, Pericic M, Klaric IM, Zgaga L, Skaric-Juric T, Wild SH, Richardson WA, Hohenstein P, Kimber CH, Tenesa A, Donnelly LA, Fairbanks LD, Aringer M, McKeigue PM, Ralston SH, Morris AD, Rudan P, Hastie ND, Campbell H, Wright AF. Vitart V, et al. Nat Genet. 2008 Apr;40(4):437-42. doi: 10.1038/ng.106. Epub 2008 Mar 9. Nat Genet. 2008. PMID: 18327257
SLC2A9 is a high-capacity urate transporter in humans.
Caulfield MJ, Munroe PB, O'Neill D, Witkowska K, Charchar FJ, Doblado M, Evans S, Eyheramendy S, Onipinla A, Howard P, Shaw-Hawkins S, Dobson RJ, Wallace C, Newhouse SJ, Brown M, Connell JM, Dominiczak A, Farrall M, Lathrop GM, Samani NJ, Kumari M, Marmot M, Brunner E, Chambers J, Elliott P, Kooner J, Laan M, Org E, Veldre G, Viigimaa M, Cappuccio FP, Ji C, Iacone R, Strazzullo P, Moley KH, Cheeseman C. Caulfield MJ, et al. PLoS Med. 2008 Oct 7;5(10):e197. doi: 10.1371/journal.pmed.0050197. PLoS Med. 2008. PMID: 18842065 Free PMC article.
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.
Homozygous SLC2A9 mutations cause severe renal hypouricemia.
Dinour D, Gray NK, Campbell S, Shu X, Sawyer L, Richardson W, Rechavi G, Amariglio N, Ganon L, Sela BA, Bahat H, Goldman M, Weissgarten J, Millar MR, Wright AF, Holtzman EJ. Dinour D, et al. J Am Soc Nephrol. 2010 Jan;21(1):64-72. doi: 10.1681/ASN.2009040406. Epub 2009 Nov 19. J Am Soc Nephrol. 2010. PMID: 19926891 Free PMC article.
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
Dinour D, Gray NK, Ganon L, Knox AJ, Shalev H, Sela BA, Campbell S, Sawyer L, Shu X, Valsamidou E, Landau D, Wright AF, Holtzman EJ. Dinour D, et al. Nephrol Dial Transplant. 2012 Mar;27(3):1035-41. doi: 10.1093/ndt/gfr419. Epub 2011 Aug 2. Nephrol Dial Transplant. 2012. PMID: 21810765
18 results