BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

358 related articles for article (PubMed ID: 26500098)

  • 1. 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]  

  • 2. 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]  

  • 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. 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]  

  • 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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; 2014; 9(9):e107902. PubMed ID: 25268603
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Pathogenic GLUT9 mutations causing renal hypouricemia type 2 (RHUC2).
    Kawamura Y; Matsuo H; Chiba T; Nagamori S; Nakayama A; Inoue H; Utsumi Y; Oda T; Nishiyama J; Kanai Y; Shinomiya N
    Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1105-11. PubMed ID: 22132964
    [TBL] [Abstract][Full Text] [Related]  

  • 11. New
    Perdomo-Ramírez A; Ramos-Trujillo E; Claverie-Martín F;
    Genes (Basel); 2023 Sep; 14(9):. PubMed ID: 37761963
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Recurrent EIARF and PRES with severe renal hypouricemia by compound heterozygous SLC2A9 mutation.
    Shima Y; Nozu K; Nozu Y; Togawa H; Kaito H; Matsuo M; Iijima K; Nakanishi K; Yoshikawa N
    Pediatrics; 2011 Jun; 127(6):e1621-5. PubMed ID: 21536615
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Novel homozygous insertion in SLC2A9 gene caused renal hypouricemia.
    Stiburkova B; Ichida K; Sebesta I
    Mol Genet Metab; 2011 Apr; 102(4):430-5. PubMed ID: 21256783
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a hypouricemia patient with SLC2A9 R380W, a pathogenic mutation for renal hypouricemia type 2.
    Chiba T; Matsuo H; Nagamori S; Nakayama A; Kawamura Y; Shimizu S; Sakiyama M; Hosoyamada M; Kawai S; Okada R; Hamajima N; Kanai Y; Shinomiya N
    Nucleosides Nucleotides Nucleic Acids; 2014; 33(4-6):261-5. PubMed ID: 24940677
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.