Výsledky vyhledávání - "Zuzana Saxova"

Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin

Autor: Dagmar Pospisilova, Petr Dzubak, Pavla Koralkova, Vladimir Divoky, Monika Horvathova, Dusan Holub, Daniela Prochazkova, Renata Mojzikova, Zuzana Saxova

Publikováno v: Blood Cells, Molecules, and Diseases. 69:23-29

Glucose-6-phosphate isomerase (GPI) deficiency, a genetic disorder responsible for chronic nonspherocytic hemolytic anemia, is the second most common red blood cell glycolytic enzymopathy. We report three patients from two unrelated families of Czech

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7ce6a752655b86d8a8848c4e4a2fac
https://doi.org/10.1016/j.bcmd.2017.04.003

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Inhibition of heme oxygenase ameliorates anemia and reduces iron overload in a β-thalassemia mouse model

Autor: Prem Ponka, Zuzana Saxova, Monika Horvathova, Carine Fillebeen, Amel Hamdi, Kostas Pantopoulos, Daniel Garcia-Santos

Publikováno v: Blood. 131:236-246

Thalassemias are a heterogeneous group of red blood cell disorders, considered a major cause of morbidity and mortality among genetic diseases. However, there is still no universally available cure for thalassemias. The underlying basis of thalassemi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7ebf64bd9f0d6a8f6d5b912b844bfe9
https://doi.org/10.1182/blood-2017-07-798728

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Two Novel Mutations in Ribosomal Proteins in the Czech National Diamond-Blackfan Anemia Registry

Autor: Ivana Hadacova, Jana Volejnikova, Zuzana Saxova, Pavla Koralkova, Renata Mojzikova, Marian Hajduch, Monika Horvathova, Petr Vojta, Dagmar Pospisilova, Alexandra Jungova, Marie Jarošová, Zuzana Maceckova

Publikováno v: Blood. 128:3903-3903

The Czech National Diamond-Blackfan Anemia (DBA) Registry currently consists of 51 patients; in 36 of them ribosomal protein (RP) mutations have previously been identified. Targeted sequencing of genes encoding RP, exomes and transcriptomic sequencin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0494f56eeba44baccb1abb84bb3f742c
https://doi.org/10.1182/blood.v128.22.3903.3903

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