246 related articles for article (PubMed ID: 32375679)
1. Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.
Sekiya M; Matsuda T; Yamamoto Y; Furuta Y; Ohyama M; Murayama Y; Sugano Y; Ohsaki Y; Iwasaki H; Yahagi N; Yatoh S; Suzuki H; Shimano H
BMC Med Genet; 2020 May; 21(1):91. PubMed ID: 32375679
[TBL] [Abstract][Full Text] [Related]
2. Recurrent exercise-induced acute renal failure in a young Pakistani man with severe renal hypouricemia and SLC2A9 compound heterozygosity.
Jeannin G; Chiarelli N; Gaggiotti M; Ritelli M; Maiorca P; Quinzani S; Verzeletti F; Possenti S; Colombi M; Cancarini G
BMC Med Genet; 2014 Jan; 15():3. PubMed ID: 24397858
[TBL] [Abstract][Full Text] [Related]
3. Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z; Ma L; Zhou J; Song Z; Zhang J; Wang K; Chen B; Pan D; Li Z; Li C; Shi Y
BMC Med Genet; 2018 Aug; 19(1):142. PubMed ID: 30097038
[TBL] [Abstract][Full Text] [Related]
4. New
Perdomo-Ramírez A; Ramos-Trujillo E; Claverie-Martín F;
Genes (Basel); 2023 Sep; 14(9):. PubMed ID: 37761963
[TBL] [Abstract][Full Text] [Related]
5. Non-urate transporter 1, non-glucose transporter member 9-related renal hypouricemia and acute renal failure accompanied by hyperbilirubinemia after anaerobic exercise: a case report.
Furuto Y; Kawamura M; Namikawa A; Takahashi H; Shibuya Y; Mori T; Sohara E
BMC Nephrol; 2019 Nov; 20(1):433. PubMed ID: 31771519
[TBL] [Abstract][Full Text] [Related]
6. Molecular background of urate transporter genes in patients with exercise-induced acute kidney injury.
Kaito H; Ishimori S; Nozu K; Shima Y; Nakanishi K; Yoshikawa N; Iijima K
Am J Nephrol; 2013; 38(4):316-20. PubMed ID: 24107611
[TBL] [Abstract][Full Text] [Related]
7. 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; 2016 Aug; 20(4):578-584. PubMed ID: 26500098
[TBL] [Abstract][Full Text] [Related]
8. Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects.
Zhou Z; Wang K; Zhou J; Wang C; Li X; Cui L; Han L; Liu Z; Ren W; Wang X; Zhang K; Li Z; Pan D; Li C; Shi Y
Mol Genet Genomic Med; 2019 Jul; 7(7):e00722. PubMed ID: 31131560
[TBL] [Abstract][Full Text] [Related]
9. 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;
Clin Chim Acta; 2018 Jun; 481():83-89. PubMed ID: 29486147
[TBL] [Abstract][Full Text] [Related]
10. [Uric Acid Metabolism, Uric Acid Transporters and Dysuricemia].
Ichida K
Yakugaku Zasshi; 2024; 144(6):659-674. PubMed ID: 38825475
[TBL] [Abstract][Full Text] [Related]
11. Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report.
Tsuji K; Kitamura M; Muta K; Mochizuki Y; Mori T; Sohara E; Uchida S; Sakai H; Mukae H; Nishino T
BMC Nephrol; 2020 Jul; 21(1):282. PubMed ID: 32677916
[TBL] [Abstract][Full Text] [Related]
12. A Novel Homozygous SLC2A9 Mutation Associated with Renal-Induced Hypouricemia.
Windpessl M; Ritelli M; Wallner M; Colombi M
Am J Nephrol; 2016; 43(4):245-50. PubMed ID: 27116386
[TBL] [Abstract][Full Text] [Related]
13. A heterozygous variant in the SLC22A12 gene in a Sri Lanka family associated with mild renal hypouricemia.
Vidanapathirana DM; Jayasena S; Jasinge E; Stiburkova B
BMC Pediatr; 2018 Jun; 18(1):210. PubMed ID: 29958533
[TBL] [Abstract][Full Text] [Related]
14. Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease.
Stiburkova B; Stekrova J; Nakamura M; Ichida K
Am J Med Sci; 2015 Oct; 350(4):268-71. PubMed ID: 26418379
[TBL] [Abstract][Full Text] [Related]
15. Recurrent exercise-induced acute kidney injury associated with hypouricemia: a case report and literature review.
Zhou J; Zhang M; Xie Q; Xu N; Li M; Zhang M; Hao C
BMC Nephrol; 2023 Dec; 24(1):384. PubMed ID: 38129773
[TBL] [Abstract][Full Text] [Related]
16. 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; 2013 Oct; 21(10):1067-73. PubMed ID: 23386035
[TBL] [Abstract][Full Text] [Related]
17. Biochemical characterization of renal hypouricemia-associated mutations in urate transporter genes using human cells.
Toyoda Y; Takada T; Nakayama A; Shinomiya N; Matsuo H
Hum Cell; 2024 Jul; 37(4):1231-1234. PubMed ID: 38811494
[No Abstract] [Full Text] [Related]
18. Pathogenic Variants of
Perdomo-Ramirez A; Cordoba-Lanus E; Trujillo-Frias CJ; Gonzalez-Navasa C; Ramos-Trujillo E; Luis-Yanes MI; Garcia-Nieto V; Claverie-Martin F;
Int J Mol Sci; 2023 May; 24(9):. PubMed ID: 37176161
[TBL] [Abstract][Full Text] [Related]
19. Diagnostic tests for primary renal hypouricemia.
Sebesta I; Stiburkova B; Bartl J; Ichida K; Hosoyamada M; Taylor J; Marinaki A
Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1112-6. PubMed ID: 22132965
[TBL] [Abstract][Full Text] [Related]
20. 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; 2012 Mar; 27(3):1035-41. PubMed ID: 21810765
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
