. "http://www.isvav.cz/projectDetail.do?rowId=NE7046"^^ . "Kombinace metod pozi\u010Dn\u00EDho klonov\u00E1n\u00ED a metod funk\u010Dn\u00ED genomiy umo\u017En\u00ED objasn\u011Bn\u00ED molekul\u00E1rn\u00ED podstaty famili\u00E1ln\u00ED juveniln\u00ED hyperurikemick\u00E9 nefropatie a umo\u017En\u00ED v\u010Dasnou a specifickou DNA diagnostiku, kter\u00E1 je z\u00E1kladn\u00EDm p\u0159edpokladem \u00FA\u010Dinn\u00E9 l\u00E9\u010Dby. Objasn\u011Bn\u00ED patogenetick\u00E9ho mechanismu vzniku hyperurik\u00E9mie u famili\u00E1ln\u00ED hyperurikemick\u00E9 nefropatie m\u016F\u017Ee napomoci objasnit p\u0159\u00ED\u010Diny prim\u00E1rn\u00ED dny. Navrhovan\u00E1 koncepce projektu zajist\u00ED modern\u00ED metodick\u00E9 z\u00E1zem\u00ED pro dal\u0161\u00ED projekty molekul\u00E1rn\u011B biologick\u00E9ho v\u00FDzkumu v \u010CR" . . "genomics" . "2005-07-18+02:00"^^ . . "positional cloning" . . . . . "nephropathy" . "Molecular basis of familial juvenile hyperuricemic nephropathy"@en . "NE7046" . . . . . . "0"^^ . "hyperuricemia" . . . . "DNA diagnostics" . "gout" . "Combination of positional cloning and functional genomics approaches will help in elucidation of molecular basis of familial juvenile hyperuricemic nephropathy. This enable correct pre-clinical DNA diagnostic which is vital for efficient treatment. Elucidation of pathogenetic mechanism of hyperuricemia in FJHN may have direct implication to pathogenesis of primary gout. Project is based on application and development of modern genomic technologies and methods. Their availability is vital for future genomics projects undertaken in Czech Republic."@en . "1"^^ . . . "molecular basis" . . "0"^^ . "Identification and functional characterization of pathogenic mutations in uromodulin gene as a primary cause of familiar hyperuricemic nephropathy. Development of complex diagnostic approach by means of molecular biology and histochemical methods."@en . "4"^^ . . "Identifikace a fuk\u010Dn\u00ED charakterizac epatogenn\u00EDch mutac\u00ED v genu pro uromodulin jako p\u0159\u00ED\u010Dina famili\u00E1rn\u00ED hyperurikemick\u00E9 nefropatie. zaveden\u00ED komplexn\u00ED diagnostiky onemocn\u011Bn\u00ED pomoc\u00ED molekul\u00E1rn\u011B biologick\u00FDch a histochemick\u00FDch metod."@cs . "4"^^ . "Molekul\u00E1rn\u00ED podstata famili\u00E1ln\u00ED juveniln\u00ED hyperurikemick\u00E9 nefropatie" . "nephropathy;gout;hyperuricemia;molecular basis;positional cloning;DNA diagnostics;genomics;DNA microarrays"@en . .