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7 059 (0,166s)

Project

Identification of molecular defects caused by mutations in splicing factors linked with retina degeneration (GA23-06129S)

Mutations in several RNA splicing factors affect specific cells in the retina intensive research, the molecular mechanisms of cell-specific susceptibility to these mutations remain unclear. In this project, we plan...

Cell biology

  • 2023 - 2023
  • 3 901 tis. Kč
  • 3 852 tis. Kč
  • GA ČR
Project

Promoter methylation analysis of the genes downstream of BRCA1 and BRCA1 - comparison of methylation profiles in mutation carriers and non-carriers (GP301/08/P103)

time.The expression profile difference of BRCA1/2 mutation carriers allows to formulate hypothesis: There is a specific methylation profiles in BRCA1/2 mutation carriersDifferent penetrance of identical mutations ...

EB - Genetika a molekulární biologie

  • 2008 - 2010
  • 1 563 tis. Kč
  • 1 563 tis. Kč
  • GA ČR
Project

New technology for correction of mutations in monogenetic diseases by targeted reparation of mutations using specific nucleases (NT14451)

on special therapeutical targeting of mutations causing monogenetic diseases TALEN-technology to resemble better the human mutations; the correction of mutations using gene therapy; the establishment of the set of spec...

EB - Genetika a molekulární biologie

  • 2013 - 2015
  • 7 803 tis. Kč
  • 7 803 tis. Kč
  • MZ
Project

*Development of assays for thrombosis and atherosclerosis risk mutation detection (FR-TI1/507)

*Project deals with the research and developments in the field of DNA mutation for detection of prevalent thromboembolic events and atherosclerosis mutations will be developed. The mutations will be in particular FV (G1691A...

EB - Genetika a molekulární biologie

  • 2009 - 2012
  • 11 617 tis. Kč
  • 6 968 tis. Kč
  • MPO
Project

Mitochondrial diseases caused by inherited disorders of ATP synthase (NR7790)

Characterization of molecular etiopathogenic mechanisms of mitochondrial diseases that are caused by specific defects of mitochondrial ATP synthase due to different mutations in mtDNA ATP6 gene, or by nuclear defects affecting biosy...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 2004 - 2006
  • 6 285 tis. Kč
  • 4 359 tis. Kč
  • MZ
Project

K-ras oncogene mutations examination in malignant and non-malignant diseases of pancreas and hepatho-billiar tract (NC4953)

The study is designated to determine sensitivity and specifity of K-ras mutations examined in pancreatic juice of patients with malignant and nonmalignant pancreatic and hepatobilliar diseases. DNA isolation will be carried out by p...

FD - Onkologie a hematologie

  • 1998 - 2000
  • 357 tis. Kč
  • 357 tis. Kč
  • MZ
Project

Genetice and metabolic consequences ofinherited disorders of mitochondrial ATFase. (NE6533)

Genetic and funtional characterization of mitochondrial encephalomyopathies caused by specific functional defects of mitochondrial ATP synthase due to mutations in mtDNA gene of subunit a, or by nuclear defects affecting biosynthesi...

FB - Endokrinologie, diabetologie, metabolismus, výživa

  • 2001 - 2003
  • 4 947 tis. Kč
  • 3 091 tis. Kč
  • MZ
Project

Epigenetic, genetic and molecular factors required for mutagenesis of oncogene BCR-ABL1 during Ph+ cells treatment with tyrosine kinase inhibitor (GA18-18407S)

inhibition of BCR-ABL1 kinase activity by specific inhibitors (TKI), preferentially by imatinib in the first line treatment. Mutations in the BCR-ABL1 kinase domain represent, that development of TKI resistance by acquisition of BC...

Biochemical research methods

  • 2018 - 2021
  • 10 249 tis. Kč
  • 9 100 tis. Kč
  • GA ČR
Project

Role of acute myeloid leukemia-associated nucleophosmin mutations in the NPM-p53-Mdm2 regulatory network (GA22-03875S)

with the possibility to increase sensitivity and response of cells with mutated NPM to cytostatics. We will evaluate impact of the NPM mutations on relations between specificNucleophosmin (NPM) mutations character...

Cell biology

  • 2022 - 2024
  • 8 442 tis. Kč
  • 8 238 tis. Kč
  • GA ČR
Project

Development of gene-editing tools for correction and validation of mutations cuasative of monogenic hematopoietic disorders (GJ17-04941Y)

stem cells harbouring the gene mutation. However, it is frequently associated employs site-specific nucleases together with the exogenous donor containing wild-type sequence to correct the causal mutation. Ex vivo correcte...

FD - Onkologie a hematologie

  • 2017 - 2021
  • 5 538 tis. Kč
  • 5 538 tis. Kč
  • GA ČR
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