. . "2011-12-31+01:00"^^ . " HPFH" . . "anemia; thalassemia; hemoglobin F; HPFH; iron homeostasis"@en . . . . " thalassemia" . . "http://www.isvav.cz/projectDetail.do?rowId=NS10281"^^ . "1"^^ . "1"^^ . . "3"^^ . " hemoglobin F" . . "Research of ethiology of X rec sideroblastic anemia, detection of genetic cause, mutations of ALAS2 gene in Czech population. Testing of TMPRSS6 mutations, examination of negative regulator of hepcidine GDF15."@en . "V\u00FDzkum se zab\u00FDv\u00E1 etiologick\u00FDmi faktory anemi\u00ED, genetick\u00FDmi p\u0159\u00ED\u010Dinami X v\u00E1zan\u00E9 sideroblastick\u00E9 anemie, testuje mutace v genu ALAS2, dal\u0161\u00ED mo\u017En\u00E9 etiologick\u00E9 faktory, TMPRSS6 mutace, regul\u00E1tory hepcidinu GDF15."@cs . "3"^^ . "2011-08-08+02:00"^^ . "0"^^ . . . . "The proposed project is dedicated to the molecular pathophysiology of congenital microcytic anemias in selected cases from Czech Republic. We will: 1. Perform cellular and molecular-genetic analysis of selected cases with congenital microcytic anemia of unknown etiology. We will characterize the growth of patient\u00B4s erythroid progenitors and subsequently sequence the candidate genes. 2. Study genetic factors which may contribute to the heterogeneity of HbF levels and clinical symptoms in beta-thalassemia patients. We will asses the cMYB protein expression and polymorphism in BCL11A gene."@en . "Molecular-genetic characterization of selected cases with congenital anemia"@en . "2013-10-31+01:00"^^ . . . "NS10281" . . "Molekul\u00E1rn\u011B-genetick\u00E1 charakterizace vybran\u00FDch vrozen\u00FDch anemi\u00ED" . . . . "2009-01-01+01:00"^^ . "P\u0159edm\u011Btem \u0159e\u0161en\u00ED projektu je studium molekul\u00E1rn\u00ED patofyziologie kongenit\u00E1ln\u00EDch mikrocyt\u00E1rn\u00EDch anemi\u00ED u vybran\u00FDch nemocn\u00FDch z\u00A0\u010Cesk\u00E9 republiky. V\u00A0r\u00E1mci projektu pl\u00E1nujeme: 1. Prov\u00E9st bun\u011B\u010Dnou a molekul\u00E1rn\u011B-genetickou anal\u00FDzu vrozen\u00FDch mikrocyt\u00E1rn\u00EDch anemi\u00ED nezn\u00E1m\u00E9 etiologie u n\u011Bkolika vybran\u00FDch rodin. Charakterizov\u00E1n bude r\u016Fst erytroidn\u00EDch progenitor\u016F pacient\u016F. N\u00E1sledn\u011B bude provedena sekvena\u010Dn\u00ED anal\u00FDza kandid\u00E1tn\u00EDch gen\u016F. 2. Analyzovat mo\u017En\u00E9 p\u0159\u00ED\u010Diny ve variabilit\u011B hladiny HbF a klinick\u00FDch projev\u016F u vybran\u00FDch pacient\u016F s\u00A0beta-talasemi\u00ED se zam\u011B\u0159en\u00EDm na anal\u00FDzu exprese proteinu cMYB a p\u0159\u00EDtomnosti polymorfizmu v genu BCL11A." . . "anemia" .