A5041386074- RNA Research and Splicing
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Immunodeficiency and Autoimmune Disorders
- Hemophilia Treatment and Research
- Complement system in diseases
- Cystic Fibrosis Research Advances
- Connective tissue disorders research
- Vitamin K Research Studies
- Blood disorders and treatments
- Neurogenetic and Muscular Disorders Research
- Blood groups and transfusion
- Monoclonal and Polyclonal Antibodies Research
- Enzyme Catalysis and Immobilization
- Glycosylation and Glycoproteins Research
- Antifungal resistance and susceptibility
- Fungal Infections and Studies
- Single-cell and spatial transcriptomics
- Pancreatic function and diabetes
- Protein Degradation and Inhibitors
- Cardiac Structural Anomalies and Repair
- Cardiac Arrest and Resuscitation
- Congenital heart defects research
- Microbial bioremediation and biosurfactants
Centrum kardiovaskulární a transplantační chirurgie
2010-2024
Central European Institute of Technology
2012-2017
Central European Institute of Technology – Masaryk University
2012-2017
University Hospital Brno
2010
St. Anne's University Hospital Brno
2010
Charles University
2010
The purpose of this study was to test, whether the late phase remote ischaemic preconditioning (L-RIPC) improves myocardial protection in coronary artery bypass grafting (CABG) with cold-crystalloid cardioplegia and preoperative tramadol modifies ischaemia-reperfusion injury using same group patients a single-blinded randomized controlled study. One hundred one adult were randomly assigned either L-RIPC, control or group. L-RIPC consisted three five-minute cycles upper limb ischaemia pauses...
Human JNK1 is essential for IL-17A/F–dependent mucocutaneous immunity to Candida and TGF-β–dependent homeostasis of connective tissues.
Marfan syndrome (MFS) is an autosomal dominant disorder caused by mutations in the fibrillin 1 gene ( FBN1 ). Neonatal form of MFS rare and associated with severe phenotype a poor prognosis. We report on newborn girl neonatal who displayed cyanosis dyspnea first day life. The main clinical features included mitral tricuspid valve insufficiency, aortic root dilatation, arachnodactyly, loose skin. Despite presence inoperable heart anomalies, was quite stable symptomatic treatment lived up to...
Mutations in the first nucleotide of exons (E+1) mostly affect pre-mRNA splicing when found AG-dependent 3′ splice sites, whereas AG-independent sites are more resistant. The AG-dependency, however, may be difficult to assess just from primary sequence data as it depends on quality polypyrimidine tract. For this reason, silico prediction tools commonly used score sites. In study, we have assessed ability features and discriminate between splicing-affecting non-affecting E+1 variants....
Hereditary angiooedema (HAE) is a life-threatening disease with poor clinical phenotype correlation its causal mutation in the C1 inhibitor (SERPING1) gene. It characterized by substantial symptom variability even affected members of same family. Therefore, it likely that genetic factors outside SERPING1 gene have an influence on manifestation. In this study, functional polymorphisms genes possible disease-modifying effect, B1 and B2 bradykinin receptors (BDKR1, BDKR2),...
Acceptor splice site recognition (3′ site: 3′ss) is a fundamental step in precursor messenger RNA (pre-mRNA) splicing. Generally, the U2 small nuclear ribonucleoprotein (snRNP) auxiliary factor (U2AF) heterodimer recognizes 3′ss, of which U2AF35 has dual function: (i) It binds to intron–exon border some 3′ss and (ii) mediates enhancer-binding splicing activators’ interactions with spliceosome. Alternative mechanisms for have been suggested, yet they are still not thoroughly understood. Here,...
Splicing-affecting mutations can disrupt gene function by altering the transcript assembly. To ascertain splicing dysregulation principles, we modified a minigene assay for parallel high-throughput evaluation of different next-generation sequencing. In our model system, all exonic and six intronic positions SMN1 gene's exon 7 were mutated to possible nucleotide variants, which amounted 180 unique single-nucleotide mutants 470 double mutants. The resulted in wide range aberrations. Exonic...
Abstract Tandem donor splice sites (5′ss) are unique regions with at least two GU dinucleotides serving as splicing cleavage sites. The Δ3 tandem 5′ss a specific subclass of separated by 3 nucleotides which can affect protein function inserting/deleting single amino acid. One is typically preferred, yet factors governing particular choice not fully understood. A highly conserved exon 21 the STAT3 gene was chosen model to study mechanisms. Based on multiple lines experimental evidence,...