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96 (0,129s) •

Project

Mitochondrial disorders with instability of mitochondrial DNA (NV17-30965A)

Mitochondrial disorders (MD) with estimated incidence 1:4000 are caused by disturbances of oxidative phosphorylation system (OXPHOS) and represent genetically and clinically heterogeneous group of diseases with significant impact on morbidity and mor...

EB - Genetika a molekulární biologie

  • 2017 - 2021
    • •
  • 13 003 tis. Kč
    • •
  • 12 960 tis. Kč
    • •
  • MZ
Project

Trangenic and pharmacological complementation of inherited ATP synthase disorders (NV16-33018A)

Inborn deficiency of ATP synthase, the key enzyme of cellular energy provision, belongs to the most severe metabolic diseases. The prevailing cause of this disease are mutation in the gene for specific assembly factor TMEM70. Present therapy for mito...

FG - Pediatrie

  • 2016 - 2019
    • •
  • 14 567 tis. Kč
    • •
  • 14 567 tis. Kč
    • •
  • MZ
Project

Characterization of the molecular basis of rare genetic diseases of pediatric onset using new methods of genome analysis (NV19-07-00136)

Genomic analysis is a very efficient diagnostic and gene discovery tool. It should ideally be applied in the diagnosis of all patients with rare diseases when the results of clinical, biochemical, metabolic, molecular and cytogenetic analyses do not ...

Human genetics

  • 2019 - 2022
    • •
  • 14 718 tis. Kč
    • •
  • 14 718 tis. Kč
    • •
  • MZ
Project

Characterization of the molecular basis of rare genetic diseases of pediatric onset using new methods of genome analysis II. (NU23-07-00281)

Genomic analysis is a very efficient diagnostic and gene discovery tool. It should ideally be applied in the diagnosis of all patients with rare diseases when the results of clinical, biochemical, metabolic, molecular and cytogenetic analyses do not ...

Human genetics

  • 2023 - 2026
    • •
  • 14 142 tis. Kč
    • •
  • 14 142 tis. Kč
    • •
  • MZ
Project

Characterization of the molecular basis of rare genetic diseases of pediatric onset using new methods of genome analysis (NV15-28208A)

Rare diseases comprise a group of more than 8000 disorders. Seventy-five per cent of rare diseases affect children, and about 30% of them die before the age of five year. This decrease quality of life for each affected individual, and have a signifi...

EB - Genetika a molekulární biologie

  • 2015 - 2018
    • •
  • 16 034 tis. Kč
    • •
  • 16 034 tis. Kč
    • •
  • MZ
Project

The application of new methods of genomic analysis in cases of rare genetic based diseases with negative results of genetic and genomic analyses. (NV19-08-00137)

The failure to diagnose the cause of a rare genetic disease occurs in ~50% of the cases and the rate of discovery of novel genes and disease-gene relations appears to be declining. We intend to apply multi-OMIC approaches to identify causal genetic ...

Health-related biotechnology

  • 2019 - 2023
    • •
  • 14 485 tis. Kč
    • •
  • 14 485 tis. Kč
    • •
  • MZ
Project

Exploiting rare inborn errors of STAT1 signaling to unravel novel mechanisms of autoimmunity and fungal susceptibility (NW24J-07-00071)

STAT1 is a pleiotropic protein in the heart of several immune processes. STAT1 gain-of-function (GOF) mutations cause a rare inborn error of immunity with diverse symptoms ranging from susceptibility to the yeast Candida (chronic mucocutaneous candid...

Immunology

  • 2024 - 2027
    • •
  • 5 521 tis. Kč
    • •
  • 5 521 tis. Kč
    • •
  • MZ
Project

XXX (IE0890942274)

9A - 9

  • 1989 - 1994
    • •
  • 0 tis. Kč
    • •
  • 0 tis. Kč
    • •
  • MZe
Project

Participation of Chlamydia pneumoniae in the etiology of respiratory tract diseases. (IZ2680)

9F - 9

  • 1995 - 1996
    • •
  • 291 tis. Kč
    • •
  • 291 tis. Kč
    • •
  • MZ
Project

Mikrobiological aspects of naturally occuring joint disease. (OK 222)

9F - 9

  • 1996 - 1996
    • •
  • 0 tis. Kč
    • •
  • 340 tis. Kč
    • •
  • MŠMT
  • 1 - 10 out of 96