Renata Posmyk
A5061550149- Genomic variations and chromosomal abnormalities
- Trace Elements in Health
- Blood Coagulation and Thrombosis Mechanisms
- Prenatal Screening and Diagnostics
- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Cytokine Signaling Pathways and Interactions
- Immunotherapy and Immune Responses
- Chromosomal and Genetic Variations
- Medicinal plant effects and applications
- T-cell and B-cell Immunology
- Genomics and Rare Diseases
- Heavy Metal Exposure and Toxicity
- DNA Repair Mechanisms
- Protein Tyrosine Phosphatases
- Hemophilia Treatment and Research
- Iron Metabolism and Disorders
- Genetic factors in colorectal cancer
- dental development and anomalies
- Nutrition, Genetics, and Disease
- Peptidase Inhibition and Analysis
- Genomics and Chromatin Dynamics
- Oropharyngeal Anatomy and Pathologies
- Epigenetics and DNA Methylation
- Congenital Ear and Nasal Anomalies
Medical University of Białystok
2015-2025
Washington Center
2014
University of Washington
2014
University Clinical Hospital In Bialystok
2013
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability first described in 2014 with a report of 13 individuals constitutive heterozygous DNMT3A variants. Here we have undertaken detailed clinical study 55 de novoDNMT3A variants, including previously reported individuals. An and were >80% TBRS designated major associations. Additional frequent associations (reported 20-80% individuals) included evolving facial...
Pathogenic mutations in BRCA1 (BReast CAncer gene 1) confer high risks of both breast (up to 70%) and ovarian 40%) cancers. Zinc (Zn) copper (Cu) are essential for various physiological functions, including antioxidant reactions. Their balance, reflected the Zn/Cu ratio, plays a crucial role maintaining redox homeostasis, which is vital cancer prevention. This study examines properties Zn Cu, specifically focusing on blood ratio as potential marker risk among mutation carriers. The cohort...
BRCA1 mutations substantially elevate the risks of breast and ovarian cancer. Various modifiers, including environmental factors, can influence cancer risk. Lead, a known carcinogen, has been associated with various cancers, but its impact on carriers remains unexplored. A cohort 989 mutation underwent genetic testing at Pomeranian Medical University, Poland. Blood lead levels were measured using inductively coupled plasma mass spectrometry. Each subject was assigned to category based their...
BRCA1 mutations predispose women to breast and ovarian cancer. The anticancer effect of zinc is typically linked its antioxidant abilities protecting cells against oxidative stress. Zinc regulates key processes in cancer development, including DNA repair, gene expression, apoptosis. We took a blood sample from 989 female mutation carriers who were initially unaffected by followed them for mean 7.5 years thereafter. There 172 incident cases cancer, 121 29 cancers, 22 cancers at other sites. A...
Noonan syndrome (NS) is a common developmental disorder presenting with dysmorphic craniofacial features, heart defects, and short stature. It belongs to the group of RASopathies caused by germline mutations in genes encoding proteins involved RAS/MAPK signaling pathway. Although nine are known cause NS, approximately 30% cases still have unexplained etiology. To identify new causative genes, 42 patients clinical diagnosis who had negative results on Sanger sequencing PTPN11 , SOS1 RAF1 (the...
: Oxidative stress plays a key role in breast cancer progression. However, little is still known about the relationship between BRCA1 mutation, incidence of and oral homeostasis. This first study to evaluate secretory function salivary glands, biomarkers redox balance, oxidative damage proteins lipids saliva subjects with mutation. Ninety eight women were enrolled allocated four groups based on molecular DNA testing: generally healthy patients without but both We demonstrated that from...
Abstract Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development these two disease entities alone or combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation core component gene, Smarcb1 . These mutant show various brain midline abnormalities that are also found individuals Coffin–Siris...
The FOXP3 gene encodes a transcription factor and is predominantly expressed in the CD4+CD25+ regulatory T cells which plays pivotal role maintenance of immune homeostasis. defect may provide critical link between autoimmunity deficiency. purpose our study was to evaluate association chosen polymorphisms (rs3761549, rs3761548, rs3761547) with different clinical multiple sclerosis (MS) data relapsing-remitting groups patients control group. performed on group consisting 174 MS patients,...
Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The caused de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age. We present 13 hitherto unpublished individuals summarize clinical...
Congenital microcephaly causes smaller than average head circumference relative to age, sex and ethnicity is most usually associated with a variety of neurodevelopmental disorders. The underlying etiology highly heterogeneous can be either environmental or genetic. Disruption any one multiple biological processes, such as those neurogenesis, cell cycle division, DNA repair transcription regulation, result in microcephaly. This etiological heterogeneity manifests clinical variability presents...
Breast cancer and ovarian pose a significant risk for BRCA1 carriers, with limited risk-reduction strategies. While improved screening helps in the early detection of breast cancer, preventive measures remain elusive. Emerging evidence suggests potential link between iodine levels modulation risk, but comprehensive studies are scarce. We conducted prospective study among 989 carriers to assess association blood risk. Using inductively coupled plasma mass spectrometry, we measured observed...
Mapping the breakpoints in de novo balanced chromosomal translocations (BCT) symptomatic individuals provides a unique opportunity to identify an unbiased way likely causative genetic defect and thus find novel human disease candidate genes. Our aim was fine-map of BCTs case series nine patients.Shallow whole-genome mate pair sequencing (SGMPS) together with long-range PCR Sanger sequencing. In one (BCT disrupting BAHD1 RET) cDNA analysis used verify expression fusion transcript cultured...
Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), a rare, autosomal recessive ciliary chondrodysplasia characterized by variety of clinical features including distinctive craniofacial appearance well skeletal, ectodermal, liver and renal anomalies. Progressive disease can be life-threatening in this condition. CED genetically heterogeneous disorder. Currently, variants any six genes (IFT122, WDR35, IFT140, IFT43, IFT52 WDR19) have been associated with syndrome....
Abstract We report on a 27‐year‐old man, who represents the sixth and youngest published case of Primrose syndrome. syndrome (PS) (OMIM#295090) is an extremely rare entity unknown etiology characterized by progressive wasting distal muscles legs, small hands resulting in contractures, presence intellectual disability, hearing problems, cataracts, brain calcification, ossification ear cartilage. All main manifestations were present our patient. Despite phenotypic similarity to five other...
Autoimmune diseases are a group of complex localized in multiple organ systems, with wide spectrum symptoms and still unclear causes. The aim the present study was to analyse possible association three autoimmune disabilities - Multiple sclerosis (MS), LADA diabetes Graves' disease (GD) single nucleotide polymorphism (SNP; rs1990760) IF IH1 gene (also known as melanoma differentiation-associated protein 5 MDA5) within Polish population. An additional goal also look for correlation between...