About: The role of RUNX1, EVI1 and CEBPA genes in the pathogenesis of leukemias and pre-leukemias     Goto   Sponge   NotDistinct   Permalink

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  • Genomic DNA of members of family with markers of familial platelet disorder with predisposition to acute myeloid leukemia will be examined for mutation in RUNX1 gene. Mutations in genes for transcription factor RUNX1 in AML and MDS patients and transcription factor CEBPA in AML patients will be analysed. The elevated level of transcription factor EVI1 mRNA is unfavorable prognostic marker for patients with AML and MDS. We will quantify EVI1 mRNA level. (en)
  • Mutace v genu RUNX1 budou hledány u genomové DNA členů rodiny se znaky dědičné poruchy destiček s predispozicí k akutní myeloidní leukémii. Budou analyzovány mutace v genech pro transkripční faktor RUNX1 u pacientů s AML a MDS a transkripční faktor CEBPA u pacientů s AML. Zvýšená hladina mRNA pro transkripční faktor EVI1 je nepříznivým prognostickým znakem pro pacienty s AML a MDS. Stanovíme hladinu mRNA pro EVI1.
Title
  • The role of RUNX1, EVI1 and CEBPA genes in the pathogenesis of leukemias and pre-leukemias (en)
  • Úloha genů RUNX1, EVI1 a CEBPA při patogenezi leukémií a preleukémií
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  • NR9045
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  • acute myeloid leukemia; myelodysplastic syndrome; inherited thrombocytopenia; mutations detection; RUNX1; CEBPA; EVI1; quantitative PCR (en)
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  • The detection of RUNX1 a CEBPA genes mutations was established and 5 novel mutations of RUNX1 gene coding region and 36 novel mutations of CEBPA gene were found. EVI1 mRNA level increasing in the course of MDS is the negative prognostic factor. (en)
  • Byla zavedena detekce mutací genu RUNX1 a CEBPA a prokázáno 5 nových mutací kódující oblasti genu RUNX1 a 36 nových mutací genu CEBPA u hematologických malignot. Zvýšení ladiny EVI1 mRNA v průběhu MDS onemocnění je negativním prognostickým faktorem. (cs)
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  • acute myeloid leukemia
  • CEBPA
  • EVI1
  • RUNX1
  • inherited thrombocytopenia
  • mutations detection
  • myelodysplastic syndrome
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