A5029644451- Endometriosis Research and Treatment
- Corneal Surgery and Treatments
- Reproductive System and Pregnancy
- Retinal Development and Disorders
- Corneal surgery and disorders
- Skin Protection and Aging
- Mitochondrial Function and Pathology
- melanin and skin pigmentation
- Glaucoma and retinal disorders
- Cell Image Analysis Techniques
- Uterine Myomas and Treatments
- Retinal Diseases and Treatments
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Cancer Cells and Metastasis
- Peptidase Inhibition and Analysis
- Ocular Diseases and Behçet’s Syndrome
- Antimicrobial Peptides and Activities
- Heme Oxygenase-1 and Carbon Monoxide
- Endometrial and Cervical Cancer Treatments
- Ancient Egypt and Archaeology
- Single-cell and spatial transcriptomics
- MicroRNA in disease regulation
- Viral Infectious Diseases and Gene Expression in Insects
- Advanced biosensing and bioanalysis techniques
- Protein Kinase Regulation and GTPase Signaling
Medical University of Warsaw
2014-2024
Narodowy Instytut Leków
2024
Cardinal Stefan Wyszyński University in Warsaw
2023
Institute of Cardiology
2023
Wojskowy Instytut Higieny i Epidemiologii
2018-2021
Fuchs endothelial corneal dystrophy (FECD) is a common endotheliopathy with complex and heterogeneous genetic background. Different variants in the TCF4 gene have been strongly associated development of FECD. encodes E2-2 transcription factor but link between strong susceptibility locus disease mechanism remains elusive. Here, we confirm positive association single nucleotide polymorphism rs613872 FECD Polish patients (OR = 12.95, 95% CI: 8.63–19.42,<mml:math...
The aim of this study was to report the clinical, histopathological, and molecular findings in a patient with late-onset lattice corneal dystrophy (LCD) without typical lines novel mutation TGFBI gene.Corneal lesions were visualized by slit-lamp examination vivo confocal microscopy. Histopathological performed on patient's specimen obtained during deep anterior lamellar keratoplasty. By using genomic DNA as template, all coding regions gene amplified directly sequenced. presence verified...
The development of an effective method melanocyte isolation and culture is necessary for basic clinical studies concerning skin diseases, including pigmentation disorders melanoma. In this paper, we describe a novel, non-enzymatic metastatic melanoma cell (along with the spontaneous spheroid creation) from or lymph node explants. based on selective harvesting melanocytes cells emigrating cultured Thereby, isolated retain their natural phenotypical features, such as expression tyrosinase...
Endometriosis is a common gynecological disorder characterized by the ectopic growth of endometrial-like tissue outside uterine cavity. Etiopathogenesis endometriosis poorly understood; it plausible, however, that disease may be associated with oxidative stress related to local heme and iron metabolism. Therefore, aim study was reveal possible association stress-inducible oxygenase 1 (HMOX1). For this purpose, 228 patients clinically confirmed 415 control parous women from general Polish...
Due to the complex structure and important functions of skin, it is an interesting research model for cosmetic, pharmaceutical, medical industries. In European Union, there has been a total ban on testing cosmetic products their ingredients animals. case medicine pharmaceuticals, this possibility also constantly limited. accordance with 3Rs principle, becoming more common test individual compounds as well entire formulations artificially created models. The cheapest most widely used are 2D...
RAB40AL has been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome. The report was based on segregation of a missense change p.D59G with disease in single family and vitro localization studies. We found variant by whole-exome sequencing two patients; however, diagnosis MPS excluded both cases. Furthermore, screening control DNA samples (n = 810) from general Polish population, using allele-specific PCR direct verification,...
ABCA4 gene mutations are the cause of a spectrum retinopathies, and most common juvenile macular degeneration is called Stargardt disease. has previously been observed almost exclusively in retina. Therefore, studying functional consequences variants required advanced molecular analysis techniques. The aim present study was to evaluate whether human hair follicles may be used for splice-site patients with retinopathies. We assessed expression skin at mRNA protein levels by means real-time...
Cardiac macrophages are known from various activities, therefore we presume that microRNAs (miRNAs) produced or released by in cardiac tissue have impact on myocardial remodeling individuals with metabolic syndrome (MetS). We aim to assess the macrophage miRNA profile selecting those molecules potentially exhibit regulatory functions MetS-related remodeling. control and db/db mice (an animal model of MetS) were counted sorted flow cytometry, which yielded two populations:...
Endometriosis is a common gynecological disorder defined as the presence of endometrial-like tissue (glands and stroma) outside uterus. The etiopathogenesis endometriosis still poorly recognized. It speculated that stage-specific embryonic antigen 1 (SSEA-1)-positive stem-like glandular epithelial cells may contribute to development disease. synthesis SSEA-1 mediated by fucosyltransferase 4 encoded FUT4 gene. Therefore, this study aimed evaluate specific expression mRNA in biopsies...
Despite the progress in early diagnostic and available treatments, pancreatic cancer remains one of deadliest cancers. Therefore, there is an urgent need for novel anticancer agents with a good safety profile, particularly terms possible side-effects. Recently dopaminergic receptors have been widely studied as they were proven to play important role progression. Although various synthetic compounds are known their interactions system, peptides recently made great comeback. This because...
Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in stroma. The aim this study report novel pathogenic variant UBIAD1 gene and present clinical molecular findings Polish patients with SCD. Individuals (n = 37) originating from four SCD families were subjected for complete ophthalmological check-up genetic testing. Corneal changes visualized slit-lamp examination, anterior segment optical coherent tomography (AS-OCT),...
Autosomal Dominant Optic Atrophy (ADOA) is the most common dominantly inherited optic neuropathy. In majority of patients it caused by OPA1 mutations and those predicted to introduce a premature termination codon (PTC) are frequently detected. Transcripts containing PTC may be degraded nonsense-mediated mRNA decay (NMD), however very little known about an effect on NMD activation. Here, using combination linkage analysis DNA sequencing, we have identified novel c.91C>T mutation with putative...
Endometriosis is a common chronic disorder characterized by the growth of endometrium-like tissue outside uterine cavity. The disease associated with inflammation and pelvic pain may have an impact on patient’s fertility. causative factors pathophysiology are still poorly recognized. dysregulation immune system, aberrant remodeling, angiogenesis contribute to progression. In endometriosis patients, proteins regulating breakdown reorganization connective tissue, e.g., collagenases, other...
Tumuli fields at El-Zuma and El-Detti were dated to the 2nd phase of Early Makurian period, c. AD 450–550. They represented three types tombs different sizes structures. The animal remains from these graves analyzed in context economy practiced by people who lived vicinity burial sites. aDNA analysis was conducted for cattle explain its origin significance inhabitants region. research showed agricultural nature settlement located north Nile Valley with a great importance sheep breeding. It...
Purpose To assess the genotype-phenotype correspondence in monogenic corneal dystrophies caused by KRT,TGFBI and UBIAD1 genes mutation. Methods 61 patients from 30 Polish families with clinically diagnosed epithelial stromal participated study. Corneal phenotypes were assessed slit lamp, AS-OCT,and confocal microscopy vivo. Genomic DNA was obtained blood samples respective exons (hot spots) PCR amplified sequenced on both strands. Results Molecular genetic testing revealed heterozygous...