A5024292638- Diabetes and associated disorders
- Adrenal Hormones and Disorders
- Hormonal Regulation and Hypertension
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Celiac Disease Research and Management
- Pancreatic function and diabetes
- Cutaneous lymphoproliferative disorders research
- Cancer-related molecular mechanisms research
- DNA Repair Mechanisms
- Vitamin D Research Studies
- T-cell and Retrovirus Studies
- Galectins and Cancer Biology
- Adipose Tissue and Metabolism
- Digestive system and related health
- Stress Responses and Cortisol
- Cytokine Signaling Pathways and Interactions
- FOXO transcription factor regulation
- RNA modifications and cancer
- Paraoxonase enzyme and polymorphisms
- CRISPR and Genetic Engineering
- Sexual Differentiation and Disorders
- Cancer-related Molecular Pathways
- Genomics, phytochemicals, and oxidative stress
- Protein Degradation and Inhibitors
Institute of Human Genetics
2014-2025
Polish Academy of Sciences
2015-2025
Cutaneous T-cell lymphomas (CTCL) are a group of rare hematological malignancies characterized by infiltration malignant T-cells into the skin. Two main types CTCL constitute Mycosis Fungoides (MF), more indolent form disease, and Sézary syndrome (SS), aggressive leukemic variant with blood involvement. presents significant clinical challenge due to its very nature, poor prognosis, treatment resistance, date, disease remains incurable. Histone deacetylase inhibitors have gained attention in...
Abstract Genome-wide association studies have identified loci at 15q25 ( IREB2 ) and 4q22 FAM13A ), associated with lung cancer (LC) chronic obstructive pulmonary disease (COPD). The aim of our research was to determine the SNPs LC severe/very severe COPD patients. We examined variants (rs2568494, rs2656069, rs10851906, rs13180) (rs1903003, rs7671167, rs2869967) among 1.141 participants (468 LC, 149 COPD, 524 smoking controls). frequency minor rs2568494 AA genotype, higher in vs controls P =...
Abstract Superparamagnetic iron oxide nanoparticles (SPIONs) have been investigated for wide variety of applications. Their unique properties render them highly applicable as MRI contrast agents, in magnetic hyperthermia or targeted drug delivery. SPIONs surface affect a whole array parameters such as: solubility, toxicity, stability, biodistribution etc. Therefore, progress the field functionalization is crucial further development therapeutic diagnostic agents. In this study, were...
Type 1 diabetes (T1DM) is a common autoimmune disease with complex genetic background. This study was aimed to investigate the association of PTPN22 G(-1123)C and C1858T, PDCD1 G7146A CYP27B1 C(-1260)A polymorphisms T1DM among Polish subjects. The gene encodes lymphoid tyrosine phosphatase, potent negative regulator T cell activation. gives rise an inhibitory cell-surface receptor, expressed on activated lymphocytes. 1-alpha hydroxylase, responsible for conversion vitamin D(3) precursor into...
Background Gene variants known to contribute Autoimmune Addison's disease (AAD) susceptibility include those at the MHC, MICA, CIITA, CTLA4, PTPN22, CYP27B1, NLRP-1 and CD274 loci. The majority of genetic component has yet be accounted for. Aim To investigate role 19 candidate genes in AAD six European case-control cohorts. Methods A sequential association study design was employed with genotyping using Sequenom iPlex technology. In phase one, 85 SNPs were genotyped UK Norwegian cohorts (691...
The transcription factor MYC is a proto-oncogene with well-documented essential role in the pathogenesis and maintenance of several types cancer. binds to specific E-box sequences genome regulate gene expression cell-type- developmental-stage-specific manner. To date, combined analysis MYC-bound E-boxes their downstream target genes important for growth different cancer missing. In this study, we designed CRISPR/Cas9 library destroy genome-wide fashion. parallel, used Brunello knock out...
Polymorphic variants at the interleukin-2 (IL2) locus affect risk of several autoimmune disorders. Our aim was to evaluate association four IL2 polymorphisms (rs6822844, rs6534349, rs2069762 and rs3136534) with type 1 diabetes (T1D) in Polish population, correlate them serum levels. 543 unrelated T1D patients 706 healthy control subjects were enrolled. The minor T allele rs6822844 significantly less frequent compared controls (p = 0.002; OR 0.71; 95 % CI 0.571-0.880). Likewise, frequency TT...
Genetically predisposed individuals may develop several autoimmune diseases-autoimmune polyendocrine syndromes (APS). APS types 2-4, are complex disorders, which combine various organ-specific conditions. Recent reports support the considerable role of BACH2 gene in immune cell differentiation and shifting T-cell balance towards regulatory T-cells. polymorphisms associated with including Addison's disease (AD), Graves' (GD), probably type 1 diabetes (T1D). Our study was aimed to investigate...
Hypoxia in non-small cell lung cancer (NSCLC) affects progression, metastasis and metabolism. We previously showed that FAM13A was induced by hypoxia NSCLC but the biological function of this gene has not been fully elucidated. This study aimed to investigate role hypoxia-induced progression metastasis. Lentiviral shRNAs were used for silencing lines (A549, CORL-105). MTS assay, tracking VPD540 dye, wound healing invasion BrdU assay APC Annexin V staining assays performed examine...
DNA damage repair is a complex process, which can trigger the development of cancer if disturbed. In this study, we hypothesize role variants in ATM, H2AFX and MRE11 genes determining breast (BC) susceptibility. We examined whole sequence ATM kinase domain estimated frequency founder mutations gene (c.5932G > T, c.6095G A, c.7630-2A C) single nucleotide polymorphisms (SNPs) (rs643788, rs8551, rs7759, rs2509049) (rs1061956 rs2155209) among 315 patients 515 controls. The analysis was performed...
<b><i>Introduction:</i></b> The etiopathogenesis of childhood leukemia is not fully understood. It suggested that endogenous viral sequences may play a role in leukemogenesis. Human retroviruses (HERVs) constitute about 8% the human genome. Most HERVs are dysfunctional because numerous mutations and deletions. Some HERVs, however, contain capable transcription. In patients with leukemia, presence antibodies against HERV-K has been identified, which could suggest...
Transmembrane protein 244 (TMEM244) was annotated to be a member of the TMEM family, which are is component cell membranes and involved in many cellular processes. To date, expression TMEM244 has not been experimentally confirmed, its function clarified. Recently, gene acknowledged diagnostic marker for Sézary syndrome, rare cutaneous T-cell lymphoma (CTCL). In this study, we aimed determine role CTCL cells. Two lines were transfected with shRNAs targeting transcript. The phenotypic effect...
Since individuals with Addison's disease (AD) present considerable co-occurrence of additional autoimmune conditions, clustering autoimmunity was also predicted among their relatives. The study aimed to assess circulating autoantibodies in first-degree relatives patients AD and correlate them the established genetic risk factors (PTPN22 rs2476601, CTLA4 rs231775, BACH2 rs3757247). Antibodies were evaluated using validated commercial assays, genotyping performed TaqMan chemistry. studied...
The transcription factor forkhead box protein 3 (FOXP3) is considered to be a prominent component of the immune system expressed in regulatory T cells (Tregs). Tregs are immunosuppressive that regulate homeostasis and self-tolerance. FOXP3 was originally thought Tregs-specific molecule, but recent studies have pinpointed diversity benign tumors carcinomas. vast majority data shown correlated with an unfavorable prognosis, although there some reports indicating opposite function this...
Polymorphic variants of the IL2RA gene, which encodes high‐affinity alpha subunit (CD25) interleukin‐2 receptor, were recently found to affect risk several autoimmune disorders. This study was aimed investigate association selected polymorphisms (rs11594656, rs3118470, rs2104286 and rs7093069) with type 1 diabetes (T1D) in a Polish cohort comprising 445 patients 671 healthy control subjects. The minor A allele at rs11594656 significantly less frequently among T1D subjects, compared group [ P...
Despite continuous efforts for an optimal steroid replacement, recent observations suggest increased cardiometabolic risk and related mortality in primary adrenal insufficiency (PAI). Adipokines are peptides from the adipose tissue, markers of dysfunction. This study was aimed to evaluate serum levels adipokines: leptin, adiponectin, resistin PAI during conventional substitution. The analysis comprised 63 patients (mean age 42.7 ± 14.1 years) healthy controls. Serum adipokines, lipid...