These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

260 related articles for article (PubMed ID: 29958533)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction.
    Gabrikova D; Bernasovska J; Sokolova J; Stiburkova B
    Urolithiasis; 2015 Oct; 43(5):441-5. PubMed ID: 26033041
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Prevalence of URAT1 allelic variants in the Roma population.
    Stiburkova B; Gabrikova D; Čepek P; Šimek P; Kristian P; Cordoba-Lanus E; Claverie-Martin F
    Nucleosides Nucleotides Nucleic Acids; 2016 Dec; 35(10-12):529-535. PubMed ID: 27906637
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.
    Dinour D; Bahn A; Ganon L; Ron R; Geifman-Holtzman O; Knecht A; Gafter U; Rachamimov R; Sela BA; Burckhardt G; Holtzman EJ
    Nephrol Dial Transplant; 2011 Jul; 26(7):2175-81. PubMed ID: 21148271
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. A novel compound heterozygous mutation in the SLC22A12 (URAT1) gene in a Japanese patient associated with renal hypouricemia.
    Fujita K; Ichida K
    Clin Chim Acta; 2016 Dec; 463():119-121. PubMed ID: 27780716
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Depletion of Uric Acid Due to SLC22A12 (URAT1) Loss-of-Function Mutation Causes Endothelial Dysfunction in Hypouricemia.
    Sugihara S; Hisatome I; Kuwabara M; Niwa K; Maharani N; Kato M; Ogino K; Hamada T; Ninomiya H; Higashi Y; Ichida K; Yamamoto K
    Circ J; 2015; 79(5):1125-32. PubMed ID: 25739858
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. New
    Perdomo-Ramírez A; Ramos-Trujillo E; Claverie-Martín F;
    Genes (Basel); 2023 Sep; 14(9):. PubMed ID: 37761963
    [TBL] [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. A case of acute renal failure after exercise with renal hypouricemia demonstrated compound heterozygous mutations of uric acid transporter 1.
    Ochi A; Takei T; Ichikawa A; Kojima C; Moriyama T; Itabashi M; Mochizuki T; Taniguchi A; Nitta K
    Clin Exp Nephrol; 2012 Apr; 16(2):316-9. PubMed ID: 22045201
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [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]  

    [Next]    [New Search]
    of 13.