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3 367 (0,116s) •

Project

Genetic causes of mitochondrial diseases due to deficiency of ATP synthase (NS9759)

Identification of nuclear genetic determinants of inborn isolated defects of mitochondrial ATPase using methods of molecular genetics and cell biology and unique with nuclear genetic defects of ATPase. Ana...

EB - Genetika a molekulární biologie

  • 2008 - 2011
    • •
  • 9 899 tis. Kč
    • •
  • 9 899 tis. Kč
    • •
  • MZ
Project

Cellular and molecular-genetic characterization of selected hereditary defects of erythropoiesis (NV19-07-00412)

This project aims to establish genetic background, etiology and pathogenesis of new cases of thalassemias, enzymopathies, erythrocyte membrane defects associated with hemolytic anemia, congenital dyserythropoietic anemia as well as ...

Hematology

  • 2019 - 2023
    • •
  • 14 136 tis. Kč
    • •
  • 14 046 tis. Kč
    • •
  • MZ
Project

Complication of pregnancy associated with hyperhomocysteinemia the role of genetic variants in the development of neural tube defects, orofacial clefts, and preeclampsia (NM6548)

The project is aimed at studying genetic component of selected complications of pregnancy that are associated with hyperhomocysteinemia. We will employ linkage and - 150 with neural tube defects. We will also analyze - 30 families w...

FK - Gynekologie a porodnictví

  • 2001 - 2003
    • •
  • 5 617 tis. Kč
    • •
  • 5 614 tis. Kč
    • •
  • MZ
Project

Molecular pathophysiology of congenital defects of erythroid production in Czech Republic (NR7799)

Molecular-genetic diagnosis of hemoglobinopathies and thalassemias in the Czech Republic. Congenital defect of iron transport in erythroidcells. Cellular and molecular characterization of congenital polycythemias......

EB - Genetika a molekulární biologie

  • 2004 - 2006
    • •
  • 3 353 tis. Kč
    • •
  • 3 226 tis. Kč
    • •
  • MZ
Project

Identification of genetic defects in families of patients with autism (NT14200)

The genetic basis of autism is best described by the model of multiple rare variants of strong effect. The goal of the project is to identify these defects. About 100 selected unrelated patients will be tested for microdeletions and...

EB - Genetika a molekulární biologie

  • 2013 - 2015
    • •
  • 7 088 tis. Kč
    • •
  • 7 088 tis. Kč
    • •
  • MZ
Project

Genetics and molecular mechanism of cytochrome c oxidase disorders (GA303/03/0749)

subunit composition of COX changes the enzyme functions in cells with genetic defects of selective COX defects manifest in the first months of life as prognostically with selective COX defects. Understanding of......

CE - Biochemie

  • 2003 - 2005
    • •
  • 3 576 tis. Kč
    • •
  • 3 576 tis. Kč
    • •
  • GA ČR
Project

MATTER MSCA MOBILITY (EF20_079/0017633)

- Research of mechanisms and pathology of immune and metabolic dysfunction in neurodevelopmental disorders (autism spectrum disorder, ASD). - Identification of basic causal mechanisms for the development of effective treatment. - Research into the ro...

Biochemistry and molecular biology

  • 2021 - 2023
    • •
  • 4 006 tis. Kč
    • •
  • 400 tis. Kč
    • •
  • MŠMT
Project

Mitochondiral diseases caused by depletion and mutation of mitochondrial DNA (ME 226)

phosphorylation enzymes represent biochemically, genetically and clinically heterogeneous encephalomyopathies. Diagnostics, therapy and genetic counselling of these diseases are problematic due to complicated genetics of t...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 1998 - 2000
    • •
  • 1 040 tis. Kč
    • •
  • 389 tis. Kč
    • •
  • MŠMT
Project

Genetic defects in families with protein C,S Deficiency and resistence to activated protein C (IZ2822)

FP - Ostatní lékařské obory

  • 1995 - 1997
    • •
  • 2 784 tis. Kč
    • •
  • 2 784 tis. Kč
    • •
  • MZ
Project

A variety of TP53 aberrant states in the clinical and biological behavior of chronic lymphocytic leukemia cells. (NW24-03-00114)

The functional heterogeneity of TP53 defects, consisting of the type of individual allele´s defect, aberration proportion, and genetic background, hampers and targeted agents. Finally, we will explore the genetic b...

Oncology

  • 2024 - 2027
    • •
  • 16 112 tis. Kč
    • •
  • 16 112 tis. Kč
    • •
  • MZ
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