A5073933773- Cystic Fibrosis Research Advances
- Genetic and Kidney Cyst Diseases
- RNA regulation and disease
- CRISPR and Genetic Engineering
- Mitochondrial Function and Pathology
- Epigenetics and DNA Methylation
- Genetic Neurodegenerative Diseases
- Prenatal Screening and Diagnostics
- Protist diversity and phylogeny
- interferon and immune responses
- Genomics and Phylogenetic Studies
- Virus-based gene therapy research
- Cancer-related Molecular Pathways
- Amyotrophic Lateral Sclerosis Research
- Genetics and Neurodevelopmental Disorders
- Ubiquitin and proteasome pathways
- Chronic Myeloid Leukemia Treatments
- Neonatal Respiratory Health Research
- Vitamin C and Antioxidants Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- RNA Research and Splicing
- Protein Tyrosine Phosphatases
- Microtubule and mitosis dynamics
- Hematopoietic Stem Cell Transplantation
- Caveolin-1 and cellular processes
University of Gdańsk
2020-2023
Medical University of Warsaw
2017-2020
Institute of Bioorganic Chemistry, Polish Academy of Sciences
2015-2019
Institute of Human Genetics
2013-2016
Polish Academy of Sciences
2013-2016
International Institute of Molecular and Cell Biology
2013-2016
University Hospital Münster
2013-2015
A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and flagellar beating essential to movement extracellular fluids cells through fluid. Multisubunit outer arm (ODA) motor complexes, produced preassembled in cytosol, are transported or compartment anchored into microtubular scaffold via ODA docking complex (ODA-DC) system. In humans, defects assembly major cause primary dyskinesia (PCD), an...
Abstract Cell-based immunotherapies can provide safe and effective treatments for various disorders including autoimmunity, cancer, excessive proinflammatory events in sepsis or viral infections. However, to achieve this goal there is a need deeper understanding of mechanisms the intercellular interactions. Regulatory T cells (Tregs) are lymphocyte subset that maintain peripheral tolerance, whilst mesenchymal stem (MSCs) multipotent nonhematopoietic progenitor cells. Despite coming from...
Triple-negative breast cancer (TNBC) is an aggressive form of mammary malignancy currently without satisfactory systemic treatment options. Agents generating reactive oxygen species (ROS), such as ascorbate (Asc) and menadione (Men), especially applied in combination, have been proposed alternative anticancer modality. However, their effectiveness can be hampered by the cytoprotective effects elevated antioxidant enzymes (e.g., peroxiredoxins, PRDX) cancer. In this study, PRDX1 mRNA protein...
The SARS-CoV-2 pandemic was defined by the emergence of new variants formed through virus mutation originating from random errors not corrected viral proofreading and/or host antiviral response introducing mutations into genome. While sequencing information hints at cellular RNA editing pathways playing a role in evolution, here, we use an vitro human cell infection model to assess types two strains representing original and alpha variants. showed both different responses patterns with...
Spinocerebellar ataxia type 3 (SCA3/MJD) is a polyQ neurodegenerative disease where the presymptomatic phase of pathogenesis unknown. Therefore, we investigated molecular network transcriptomic and proteomic triggers in young SCA3/MJD brain from Ki91 knock-in mouse. We found that transcriptional dysregulations resulting mutant ataxin-3 are not occurring mice, while old mice also postmitotic patient SCA3 neurons demonstrate late changes. Unlike lack early mRNA changes, have identified...
Primary ciliary dyskinesia (PCD) is a rare recessive disease with prevalence of 1/10,000; its symptoms are caused by kinetic dysfunction motile cilia in the respiratory epithelium, flagella spermatozoids, and primary embryonic node. PCD genetically heterogeneous: genotyping already known PCD-related genes explains genetic basis 60–65% cases, depending on population. While identification new involved pathogenesis remains crucial, search for new, population-specific mutations causative equally...
The polyglutamine (polyQ) family of disorders comprises 9 genetic diseases, including several types ataxia and Huntington disease. Approximately two decades investigation the creation more than 130 mouse models polyQ have revealed many similarities between these diseases. share common mutation types, neurological characteristics certain aspects pathogenesis, morphological physiological neuronal alterations. All diseases still remain incurable. large volume information collected as a result...
We have performed detailed analysis of the genomic landscape commercially available K562 cells, employing targeted enrichment nearly 1300 cancer-related genes followed by next-generation sequencing (NGS) and also classical cytogenetics. Deep revealed 88 variants potentially biological significance. Among them we detected alterations in already known to be mutated K562, such as TP53 but several other genes, which are implicated tumorigenesis drug resistance, MLH1, ASXL1 BRCA1 most prominent...
RNA variants that emerge from editing and alternative splicing form important regulatory stages in protein signalling. In this report, we apply an integrated DNA variant detection workbench to define the range of deviate reference genome a human melanoma cell model. The can be grouped into (i) classic ADAR-like or APOBEC-like events (ii) multiple-nucleotide (MNVs) including three six base pair in-frame non-canonical unmapped exons. We focus on validating representative genes these classes....
We present a stratification of the genetic basis primary ciliary dyskinesia (PCD), based on screening >230 individuals for gene mutations using various approaches including whole exome sequencing. PCD is genetically heterogeneous recessive ciliopathy, characterized by chronic lung disease and laterality fertility defects arising from cilia sperm dysmotility. Most caused loss outer dynein arm motors (ODA) essential motility, in ODA subunits or docking targeting proteins. Gene panel...
Abstract In this article, we report familial cases of type 2 congenital erythrocytosis (ECYT2) in two siblings, a 2-year-old boy and his younger sister. Both patients were diagnosed based on laboratory findings including erythrocytosis, elevated hemoglobin levels, hematocrit. Acquired was excluded the clinical features genetic analysis JAK2/CALR/MPL genes. Next-generation sequencing employed for older brother revealing NM_000551.4: c.598C>T, p.Arg200Trp homozygous variant VHL gene,...