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Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
Mojzikova R, Koralkova P, Holub D, Saxova Z, Pospisilova D, Prochazkova D, Dzubak P, Horvathova M, Divoky V. Mojzikova R, et al. Among authors: pospisilova d. Blood Cells Mol Dis. 2018 Mar;69:23-29. doi: 10.1016/j.bcmd.2017.04.003. Epub 2017 Apr 14. Blood Cells Mol Dis. 2018. PMID: 28803808
Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
Mojzikova R, Koralkova P, Holub D, Zidova Z, Pospisilova D, Cermak J, Striezencova Laluhova Z, Indrak K, Sukova M, Partschova M, Kucerova J, Horvathova M, Divoky V. Mojzikova R, et al. Among authors: pospisilova d. Br J Haematol. 2014 May;165(4):556-63. doi: 10.1111/bjh.12779. Epub 2014 Feb 18. Br J Haematol. 2014. PMID: 24533562 Free article.
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions.
Volejnikova J, Vojta P, Urbankova H, Mojzíkova R, Horvathova M, Hochova I, Cermak J, Blatny J, Sukova M, Bubanska E, Feketeova J, Prochazkova D, Horakova J, Hajduch M, Pospisilova D. Volejnikova J, et al. Among authors: pospisilova d. Blood Cells Mol Dis. 2020 Mar;81:102380. doi: 10.1016/j.bcmd.2019.102380. Epub 2019 Nov 11. Blood Cells Mol Dis. 2020. PMID: 31855845
Missense mutation in RPS7 causes Diamond-Blackfan anemia via alteration of erythrocyte metabolism, protein translation and induction of ribosomal stress.
Kubickova A, Maceckova Z, Vojta P, Ondra M, Volejnikova J, Koralkova P, Jungova A, Jahoda O, Mojzikova R, Hadacova I, Cermak J, Horvathova M, Pospisilova D, Hajduch M. Kubickova A, et al. Among authors: pospisilova d. Blood Cells Mol Dis. 2022 Nov;97:102690. doi: 10.1016/j.bcmd.2022.102690. Epub 2022 Jul 6. Blood Cells Mol Dis. 2022. PMID: 35871033
Characterization of iron metabolism and erythropoiesis in erythrocyte membrane defects and thalassemia traits.
Sulovska L, Holub D, Zidova Z, Divoka M, Hajduch M, Mihal V, Vrbkova J, Horvathova M, Pospisilova D. Sulovska L, et al. Among authors: pospisilova d. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016 Jun;160(2):231-7. doi: 10.5507/bp.2015.054. Epub 2015 Oct 27. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2016. PMID: 26592557 Free article.
108 results