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Showing results for C. divoky
Search for C. DIWOKY instead (1 results)
Hemoglobinopathies.
Indrák K, Divoká M, Pospíšilová D, Čermák J, Beličková M, Horváthová M, Divoký V. Indrák K, et al. Vnitr Lek. 2018 Summer;64(5):476-487. Vnitr Lek. 2018. PMID: 30193516 Review. English.
In more detail are described hemoglobinopathies, that have been diagnosed and described as novel: beta-thalassemic mutation CD 38/39 (-C); Hb Olomouc; Hb Hana; Hb Hradec Kralove and 18.3 kb deletion downstream of alpha-globin cluster leading to a new mechanism of alpha-tha …
In more detail are described hemoglobinopathies, that have been diagnosed and described as novel: beta-thalassemic mutation CD 38/39 (-C …
Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.
Sochorcova L, Hlusickova Kapralova K, Fialova Kucerova J, Pospisilova D, Prochazkova D, Jahoda O, Kurekova S, Kralova B, Divoka M, Navratilova J, Manakova J, Kriegova E, Indrak K, Faber E, Divoky V, Horvathova M. Sochorcova L, et al. Br J Haematol. 2023 Aug;202(3):674-685. doi: 10.1111/bjh.18891. Epub 2023 May 28. Br J Haematol. 2023. PMID: 37246471
Causative mutations in erythropoietin receptor (EPOR), hypoxia-inducible factor 2 alpha (HIF2A) or Von Hippel-Lindau (VHL) genes were detected in nine patients, including a novel p.A421Cfs*4 EPOR and a homozygous intronic c.340+770T>C VHL mutation. The associatio …
Causative mutations in erythropoietin receptor (EPOR), hypoxia-inducible factor 2 alpha (HIF2A) or Von Hippel-Lindau (VHL) genes were detect …
The specific PKC-α inhibitor chelerythrine blunts costunolide-induced eryptosis.
Ghashghaeinia M, Koralkova P, Giustarini D, Mojzikova R, Fehrenbacher B, Dreischer P, Schaller M, Mrowietz U, Martínez-Ruiz A, Wieder T, Divoky V, Rossi R, Lang F, Köberle M. Ghashghaeinia M, et al. Apoptosis. 2020 Oct;25(9-10):674-685. doi: 10.1007/s10495-020-01620-6. Apoptosis. 2020. PMID: 32638182 Free PMC article.
The T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene is a rare polymorphism that does not cause a beta-thalassemia as previously ascribed.
Divoky V, Baysal E, Oner R, Cürük MA, Walker EL 3rd, Indrak K, Huisman TH. Divoky V, et al. Hum Genet. 1994 Jan;93(1):77-8. doi: 10.1007/BF00218918. Hum Genet. 1994. PMID: 8270260
We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene in members of two Czech families and one black family. ...
We have observed a T-->C mutation at position +96 of the untranslated region 3' to the terminating codon of the beta-globin gene i …
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. 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
The first patient had 15% of residual GPI activity resulting from two new heterozygous missense mutations c.478T>C and c.1414C>T leading to substitutions p.(Ser160Pro) and p.(Arg472Cys). Two other patients (siblings) inherited the same c.1414C&gt …
The first patient had 15% of residual GPI activity resulting from two new heterozygous missense mutations c.478T>C and c …
Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.
Divoky V, Bissé E, Wilson JB, Gu LH, Wieland H, Heinrichs I, Prior JF, Huisman TH. Divoky V, et al. Biochim Biophys Acta. 1992 Dec 10;1180(2):173-9. doi: 10.1016/0925-4439(92)90065-u. Biochim Biophys Acta. 1992. PMID: 1463768
His second chromosome and one of his mother's had the common IVS-I-5 (G-->C) mutation that leads to a rather severe beta(+)-thalassemia and the GTG-->ATG mutation at codon 18, resulting in the replacement of a valine residue by a methionine residue. ...This low amoun …
His second chromosome and one of his mother's had the common IVS-I-5 (G-->C) mutation that leads to a rather severe beta(+)-thalas …
Molecular characterization of beta-thalassemia in Hungary.
Ringelhann B, Szelenyi JG, Horanyi M, Svobodova M, Divoky V, Indrak K, Hollân S, Marosi A, Laub M, Huisman TH. Ringelhann B, et al. Hum Genet. 1993 Oct;92(4):385-7. doi: 10.1007/BF01247340. Hum Genet. 1993. PMID: 8225319
One rare mutation (initiation codon ATG-->GTG) was identified as an independent mutation because of the absence of known polymorphisms in the beta-globin gene. One new frameshift at codon 51 (-C) was observed in a single individual; hematological data were as expected f …
One rare mutation (initiation codon ATG-->GTG) was identified as an independent mutation because of the absence of known polymorphisms in …
Molecular characterization of six new cases of red blood cell hexokinase deficiency yields four novel mutations in HK1.
Koralkova P, Mojzikova R, van Oirschot B, Macartney C, Timr P, Vives Corrons JL, Striezencova Laluhova Z, Lejhancova K, Divoky V, van Wijk R. Koralkova P, et al. Blood Cells Mol Dis. 2016 Jul;59:71-6. doi: 10.1016/j.bcmd.2016.04.002. Epub 2016 Apr 22. Blood Cells Mol Dis. 2016. PMID: 27282571
A total of six different mutations were detected in HK1, four of them described here for the first time: c.2599C>T p.(His867Tyr), c.1799C>T p.(Thr600Met), c.873-2A>G and c.493-1G>A. The pathogenic nature of the identified missense mutations …
A total of six different mutations were detected in HK1, four of them described here for the first time: c.2599C>T p.(His867Tyr), …
23 results