"2007-01-01+01:00"^^ . . . "http://www.isvav.cz/projectDetail.do?rowId=NR9448"^^ . "The subject of this project is ascertainment of the relationship between polymorphisms of FSH/LH receptors genes influencing the fine endocrine regulation of reproductive functions in relation to severe disorders of male and female reproduction, sexual development in adolescents, menstrual cycle, to the risk of OHSS and predisposition to hormone-dependent tumours - ovarian carcinoma. This project comprises the study of other genetic factors, affecting function of the FSH receptor, including the trinucleotide expansion in Fragile X syndrome and the possibility of pathogenetic association of CFTR gene mutations and polymorphisms to reproductive disorders. The detection of possible lifestyle and ethnicity effects on the population frequencies of different studied polymorphisms and their phenotypic expressions also belongs to the project. Pathogenesis of azoospermia/oligozoospermia will be elucidated also by the study of the clinical impact of Y chromosome nanodeletions."@en . . " cystic fibrosis" . " hyperstimulation syndrome" . . "0"^^ . "P\u0159edm\u011Btem \u0159e\u0161en\u00E9ho projektu je zji\u0161t\u011Bn\u00ED vztahu polymorfism\u016F gen\u016F receptor\u016F FSH a LH, ovliv\u0148uj\u00EDc\u00EDch jemnou endokrinn\u00ED regulaci reprodukce k t\u011B\u017Ek\u00FDm poruch\u00E1m fertility u mu\u017E\u016F a \u017Een, pohlavn\u00EDho v\u00FDvoje dosp\u00EDvaj\u00EDc\u00EDch a poruch\u00E1m menstrua\u010Dn\u00EDho cyklu \u017Een, k riziku OHSS a dispozici k hormon\u00E1ln\u011B dependentn\u00EDm n\u00E1dor\u016Fm - karcinomu ovaria. Studium dal\u0161\u00EDch genetick\u00FDch faktor\u016F, ovliv\u0148uj\u00EDc\u00EDch funkci receptoru FSH, k nim\u017E pat\u0159\u00ED expanze trinukleotid\u016F u syndromu Fra X a mo\u017Enosti patogenetick\u00E9 asociace s poruchami reprodukce v d\u016Fsledku mutac\u00ED a polymorfism\u016F CFTR genu pat\u0159\u00ED k dal\u0161\u00EDm c\u00EDl\u016Fm tohoto projektu. Zji\u0161t\u011Bn\u00ED mo\u017En\u00FDch vliv\u016F \u017Eivotn\u00EDho stylu a etnicity na popula\u010Dn\u00ED frekvenci r\u016Fzn\u00FDch typ\u016F studovan\u00FDch polymorfism\u016F a jejich fenotypick\u00E9 projevy. Objasn\u011Bn\u00ED patogeneze azoospermie / oligospermie bude zdokonaleno detekc\u00ED mikro- a nanodelec\u00ED chromosomu Y a hodnocen\u00EDm aneuploidie spermi\u00ED s vyu\u017Eit\u00EDm metod imunoflurescen\u010Dn\u00EDho vy\u0161et\u0159en\u00ED a CASA." . "The project used the methodology of molecular genetics for research in the area of fine endocrine regulation and possible relationship to the infertility, veneral development and other pathologies."@en . "1"^^ . . " androgens" . . "polymorphisms; receptors; FSH/LH; androgens; cystic fibrosis; infertility; hyperstimulation syndrome; FRA X syndrome"@en . "2011-04-27+02:00"^^ . "0"^^ . . "2009-12-31+01:00"^^ . "Genov\u00E9 polymorfismy receptor\u016F pro FSH, androgenn\u00EDch receptor\u016F a CFTR genu v patogenezi z\u00E1va\u017En\u00FDch poruch reprodukce a v farmakogenetick\u00E9 prevenci ovari\u00E1ln\u00EDho hyperstimula\u010Dn\u00EDho syndromu" . . . "2009-12-18+01:00"^^ . " FSH/LH" . "polymorphisms" . "9"^^ . "9"^^ . . . . " receptors" . "Polymorphisms in FSH- and androgen receptor genes and in the CFTR gene in the pathogenesis of severe reproductive disorders and in pharmacogenetic prevention of ovarian hyperstimulation syndrome"@en . . " infertility" . "NR9448" . . . . "Projekt vyu\u017Eil metod molekul\u00E1rn\u00ED genetiky pro v\u00FDzkum v oblasti jemn\u00E9 endokrinn\u00ED regulace a mo\u017En\u00E9 souvislosti k poruch\u00E1m plodnosti, pohlavn\u00EDho v\u00FDvoje a dal\u0161\u00EDm patologi\u00EDm."@cs . . . . .