" SLC22A12" . "0"^^ . "4"^^ . "P\u0159edm\u011Btem \u0159e\u0161en\u00ED projektu je identifikace a detailn\u00ED funk\u010Dn\u00ED charakterizace alelick\u00FDch variant SLC2A9 a SLC22A12 v souboru 150 osob s normourik\u00E9mi\u00ED a 150 osob s nefyziologick\u00FDmi hodnotami kyseliny mo\u010Dov\u00E9 (gDNA ji\u017E k dispozici, v\u00FDb\u011Br ze souboru projektu %22M\u00EDrn\u00E1 hyperhomocysteinemie v \u010Desk\u00E9 populaci: analysa genetick\u00FDch faktor\u016F u pacient\u016F s atherosklerosou%22, IGA MZ NM 26-3). Nalezen\u00E9 alelick\u00E9 varianty (PCR amplifikace a sekv. anal\u00FDza k\u00F3duj\u00EDc\u00EDch oblast\u00ED) budou funk\u010Dn\u011B a imunocytochemicky studov\u00E1ny expresn\u00EDm syst\u00E9mem vyu\u017E\u00EDvaj\u00EDc\u00ED oocyty Xenopus laevis v\u010Detn\u011B subcelul\u00E1rn\u00ED lokalizace, kolokaliza\u010Dn\u00EDch studi\u00ED, dynamiky procesov\u00E1n\u00ED a transportu i transportn\u00ED aktivity protein\u016F. Identifikace alelick\u00FDch variant majoritn\u00EDch ur\u00E1tov\u00FDch transport\u00E9r\u016F v statisticky v\u00FDznamn\u00E9m vzorku \u010Desk\u00E9 populace a jejich funk\u010Dn\u00ED charakterizace objasn\u00ED \u010Detnost a vliv t\u011Bchto variant na hodnoty s\u00E9rov\u00E9 hladiny kyseliny mo\u010Dov\u00E9 a pravd\u011Bpodobn\u011B p\u0159isp\u011Bje k objasn\u011Bn\u00ED vztahu mezi genotypem a fenotypem u hypo/hyperurik\u00E9mie." . "NT11322" . "4"^^ . "Methods used in the project: retrospective cohort of 869 subjects, which were already biochemically and clinically characterized (the project \u201CMild hyperhomocysteinemia in the Czech population: analysis of genetic factors among patients with atherosclerosis\u201D, IGA MZ NM 26-3); selection of 150 subjects with normouricemia and 150 subjects with pathological level of serum uric acid. After identification of allelic variants (PCR amplification and seq. analysis) further detailed studies using expression system of Xenopus laevis oocytes including subcellular localization, colocalization, processing dynamics, transport of proteins and uptake studies will be performed. The identification of SLC2A9 and SLC22A12 allelic variants in statistically significant cohort of Czech population and their functional characterization will elucidate their frequency and influence on the level of serum uric acid and could contribute to the determination of relationship between genotype/fenotype in hypo/hyperuricemia."@en . "1"^^ . " SLC2A9" . . "serum uric acid" . . " hypouricemia" . . "2013-03-26+01:00"^^ . . "http://www.isvav.cz/projectDetail.do?rowId=NT11322"^^ . . "2014-06-30+02:00"^^ . "2010-09-01+02:00"^^ . . . "Functional characterization of SLC22A12 and SLC2A9 allelic variants in Czech population"@en . . " urate transporter" . . " hyperuricemia" . " GLUT9" . "2015-01-22+01:00"^^ . . . " URAT1" . . . "serum uric acid; urate transporter; hyperuricemia; hypouricemia; SLC2A9; GLUT9; SLC22A12; URAT1; Xenopus laevis oocyte"@en . "Charakterizace alelick\u00FDch variant SLC22A12 a SLC2A9 v \u010Desk\u00E9 populaci" . . . . . "0"^^ .