. "Detailed analysis of X-inactivation skewing in tissues and evaluation of allelic expression of X-linked genes in controls.The results are relevant for interpretation of X-inactivation skewing in for X-linked disorders and its relation to phenotype."@en . . . . "Budeme vyhled\u00E1vat rodiny s nen\u00E1hodnou inaktivac\u00ED chromozomu X a zji\u0161\u0165ovat zda v n\u011Bkter\u00FDch rodin\u00E1ch je nen\u00E1hodn\u00E1 inaktivace d\u011Bd\u011Bna. Inaktivaci budeme zji\u0161\u0165ovat metodou zalo\u017Eenou na vy\u0161et\u0159en\u00ED polymorfism\u016F v genu HUMARA nebo jin\u00FDch genech. Budeme tak\u00E9 hledat polymorfismy v genech Xist/TSIX. V tk\u00E1n\u00EDch budeme zji\u0161\u0165ovat rozd\u00EDly v inaktivaci chromozomu X. V\u00FDsledky napomohou l\u00E9pe interpretovat v\u00FDsledky vy\u0161et\u0159en\u00ED inaktivace b\u011B\u017En\u011B prov\u00E1d\u011Bn\u00E9 nap\u0159. jen z krevn\u00EDch bun\u011Bk. Budeme zkoumat vztah mezi inaktivac\u00ED chromozomu X a fenotypem u \u017Een heterozygotn\u00EDch pro \u010Dast\u00E1 gonozom\u00E1ln\u011B recesivn\u00ED metabolick\u00E1 onemocn\u011Bn\u00ED. Budeme zji\u0161\u0165ovat zda lze v\u00FDsledek vy\u0161et\u0159en\u00ED inaktivace pou\u017E\u00EDt pro predikci fenotypu a prognosy." . . "Vliv inaktivace chromozomu X na fenotyp u gonosom\u00E1ln\u011B recesivn\u00EDch metabolick\u00FDch onemocn\u011Bn\u00ED, jeho tk\u00E1\u0148ov\u00E1 distribuce a d\u011Bdi\u010Dnost" . "2008-09-16+02:00"^^ . "1"^^ . . "1"^^ . "0"^^ . "1"^^ . "http://www.isvav.cz/projectDetail.do?rowId=NR8361"^^ . " X-linked disorders" . . "0"^^ . "Detailn\u00ED anal\u00FDza rozd\u00EDl\u016F ze\u0161ikmen\u00ED X - inaktivace ve tk\u00E1n\u00EDch a alelick\u00E9 exprese gen\u016F na chromozomu X u kontroln\u00EDch osob.V\u00FDsledek m\u00E1 v\u00FDznam pro interpretaci vy\u0161et\u0159en\u00ED inaktivace u gonosom\u00E1ln\u00EDch onemocn\u011Bn\u00ED a vlivu inaktivace n genotyp."@cs . "2005-01-01+01:00"^^ . "X-inactivation; X-linked disorders; X-inactivation skewing; Xist/XIST; inherited metabolic disorders"@en . . "X-inactivation" . . . . "NR8361" . " X-inactivation skewing" . "2007-12-31+01:00"^^ . " Xist/XIST" . "2007-03-02+01:00"^^ . . . . ": We will search families with X-inactivation skewing to find out if the skewing is inherited in some families. We will study the inactivation by the HUMARA and similar assays. We will also study polymorphisms in Xist/TSIX. We will study tissue difference in X-inactivation. This will help to better interpretation of X-inactivation studies. We will study the relationship between X-inactivation and phenotype in females heterozygous for common X-linked metabolic disorders. We will examine how the X-inactivation studies can be used for prediction of phenotype."@en . . . . "The influence of X-inactivation on phenotype in comon X-linked metabolic disorder, its tissue distribution and inheritance"@en . .