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Summary Expression Phenotypes Gene Literature (14) GO Terms (2) Nucleotides (101) Proteins (46) Interactants (7) Wiki
XB-GENEPAGE-992549

Papers associated with slc2a9l



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URAT1 and GLUT9 mutations in Spanish patients with renal hypouricemia., Claverie-Martin F, Trujillo-Suarez J, Gonzalez-Acosta H, Aparicio C, Justa Roldan ML, Stiburkova B, Ichida K, Martín-Gomez MA, Herrero Goñi M, Carrasco Hidalgo-Barquero M, Iñigo V, Enriquez R, Cordoba-Lanus E, Garcia-Nieto VM, RenalTube Group., Clin Chim Acta. June 1, 2018; 481 83-89.

Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate., Ruiz A, Gautschi I, Schild L, Bonny O., Front Physiol. January 1, 2018; 9 476.                      

Identification of Key Residues for Urate Specific Transport in Human Glucose Transporter 9 (hSLC2A9)., Long W, Panigrahi R, Panwar P, Wong K, O Neill D, Chen XZ, Lemieux MJ, Cheeseman CI., Sci Rep. January 24, 2017; 7 41167.                

Functional analysis of novel allelic variants in URAT1 and GLUT9 causing renal hypouricemia type 1 and 2., Mancikova A, Krylov V, Hurba O, Sebesta I, Nakamura M, Ichida K, Stiburkova B., Clin Exp Nephrol. August 1, 2016; 20 (4): 578-584.

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease., Stiburkova B, Stekrova J, Nakamura M, Ichida K., Am J Med Sci. October 1, 2015; 350 (4): 268-71.

Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout., Hurba O, Mancikova A, Krylov V, Pavlikova M, Pavelka K, Stibůrková B., PLoS One. January 1, 2014; 9 (9): e107902.        

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis., Stiburkova B, Sebesta I, Ichida K, Nakamura M, Hulkova H, Krylov V, Kryspinova L, Jahnova H., Eur J Hum Genet. October 1, 2013; 21 (10): 1067-73.

Human SLC2A9a and SLC2A9b isoforms mediate electrogenic transport of urate with different characteristics in the presence of hexoses., Witkowska K, Smith KM, Yao SY, Ng AM, O'Neill D, Karpinski E, Young JD, Cheeseman CI., Am J Physiol Renal Physiol. August 15, 2012; 303 (4): F527-39.

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., Nephrol Dial Transplant. March 1, 2012; 27 (3): 1035-41.

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., J Am Soc Nephrol. January 1, 2010; 21 (1): 64-72.

Solute carrier family 2, member 9 and uric acid homeostasis., Cheeseman C., Curr Opin Nephrol Hypertens. September 1, 2009; 18 (5): 428-32.

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., PLoS Med. October 7, 2008; 5 (10): e197.          

Plasma urate level is directly regulated by a voltage-driven urate efflux transporter URATv1 (SLC2A9) in humans., Anzai N, Ichida K, Jutabha P, Kimura T, Babu E, Jin CJ, Srivastava S, Kitamura K, Hisatome I, Endou H, Sakurai H., J Biol Chem. October 3, 2008; 283 (40): 26834-8.

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., Nat Genet. April 1, 2008; 40 (4): 437-42.

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