A5038176549- Epigenetics and DNA Methylation
- Cancer-related gene regulation
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Genetics and Neurodevelopmental Disorders
- Child and Adolescent Psychosocial and Emotional Development
- Genomic variations and chromosomal abnormalities
- Diet and metabolism studies
- Folate and B Vitamins Research
- Genomics and Rare Diseases
- Cancer-related molecular mechanisms research
- Tryptophan and brain disorders
- Schizophrenia research and treatment
- Neuroscience and Neuropharmacology Research
- Autophagy in Disease and Therapy
- Adolescent and Pediatric Healthcare
- Metabolism and Genetic Disorders
- MicroRNA in disease regulation
- Bipolar Disorder and Treatment
- Immunodeficiency and Autoimmune Disorders
- Genetic Syndromes and Imprinting
- Congenital limb and hand anomalies
- BRCA gene mutations in cancer
- Signaling Pathways in Disease
- Pharmacological Receptor Mechanisms and Effects
Wroclaw Medical University
2014-2024
Institute of Human Genetics
2012
University of Limerick
2012
Lublin Oncology Center
2012
Pediatrics and Genetics
2012
We investigated methylation of DNA repetitive sequences (LINE-1 and BAGE) in peripheral blood leukocytes from first-episode schizophrenia (FES) patients healthy controls (HCs) with respect to childhood adversities.Patients were divided into two subgroups based on the history trauma - FES(+) FES(-) subjects. The majority HCs had a negative HCs(-) subjects.FES(+) significantly lower LINE-1 comparison or HC(-) Emotional abuse total score predicted FES patients, while general was associated BAGE...
Genetic disorders are the leading cause of infant morbidity and mortality. Due to large number genetic diseases, molecular phenotype heterogeneity often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing (R-WES) can be successfully performed. R-WES (singletons) was performed in 18 unrelated and/or progressing disease suspicion origin hospitalized an Intensive Care Unit (ICU). Blood samples were also collected...
Despite great progress in research on the subject, involvement of autophagy colorectal cancer (CRC) pathogenesis (initiation, progression, metastasis) remains obscure and controversial. Autophagy is a catabolic process, fundamental to cell viability connected with degradation/recycling proteins organelles. In this study, we aimed at investigating relative expression level mRNA via Real-Time PCR 16 chosen genes belonging Atg8 mammalian orthologs their conjugation system, comprising GABARAP,...
Autophagy is a catabolic process, which involved in the maintenance of intracellular homeostasis by degrading redundant molecules and organelles. begins with formation double-membrane phagophore, followed its enclosure, thus leading to appearance an autophagosome fuses lysosome. This process highly conserved, precisely orchestrated regulated autophagy-related genes. Recently, autophagy has been widely studied different types cancers, including colorectal cancer. As it revealed, plays two...
Altered methylation of the FKBP5 gene has been observed in various mental disorders and attributed to effects adverse childhood experiences (ACEs). However, level not investigated patients with psychotic disorders. Therefore, this study we aimed determine psychosis controls, taking into account ACEs. Participants were 85 disorders, including first-episode (FEP) acutely relapsed schizophrenia (SCZ-AR) patients, as well 56 controls. The four CpG sites at was determined peripheral blood...
Epileptic encephalopathies (EE) include a range of severe epilepsies in which intractable seizures or sub‐clinical epileptiform activity are accompanied by impairment motor and cognitive functions. Mutations several genes including ion channels other whose function is not completely understood have been associated to some EE. In this report, we provide detailed clinical description sporadic male patient with early‐onset epilepsy epileptic encephalopathy whom performed complete exome...
Abstract Background Dysregulation of epigenetic processes might account for alterations the hypothalamic-pituitary-adrenal axis observed in patients with schizophrenia. Therefore, this study, we aimed to investigate methylation glucocorticoid receptor (NR3C1) gene schizophrenia-spectrum disorders, individuals at familial high risk schizophrenia (FHR-P), and healthy controls respect clinical manifestation a history psychosocial stressors. Methods We recruited 40 first-episode psychosis...
The ErbB signalling network plays a crucial role in the growth and progression of several cancers, including colorectal cancer (CRC), includes potentially drug-targetable genes. Oncogenic activation pathway by mutations focal amplifications have emerged recently as an important predictive marker prognosis CRC patients. However, contrast to genetic events, little is known about epigenetic alternations ErbB-associated genes their impact on gene expression. Genome-wide methylation sporadic CRCs...
Most recent genome-wide studies on the CpG island methylation in colorectal cancer (CRC) have led to discovery of at least 3 distinct clusters. However, there remains an uncertainty whether CRC clusters identified these represent compatible phenotypes.We carried out comprehensive genome-scale DNA profiling by Illumina Infinium HumanMethylation27 21 pools that 84 samples divided according their high-, intermediate-, and low-methylation epigenotypes (HME, IME, LME, respectively) 70...
Abstract Recent investigations have demonstrated the clear heterogeneity of sporadic colorectal cancer (CRC) with regard to CpG island methylation. Two unsupervised cluster analyses revealed that CRCs form three distinct DNA methylation subsets, which are referred as high‐, intermediate‐, and low‐methylation epigenotypes (HME, IME, LME, respectively). A recent study by Yagi et al. found a fairly sensitive specific identification HME, LME using two marker panels analyzed MALDI‐TOF mass...
Abstract Background There is a growing number of studies showing interactions between genetic polymorphisms associated with dopaminergic neurotransmission and traumatic life events (TLEs) on risk psychotic-like experiences (PLEs). Anomalous self-experiences (ASEs) have been both TLEs as well PLEs. However, it remains unknown what the role ASEs in complexity gene–environment emergence Patients methods We included 445 young adults—university students from three big cities Poland. used...
Recent studies have provided evidence that interactions between variation in dopaminergic genes and stressful experiences might impact risk of psychosis. However, it remains unknown whether these the development subclinical symptoms, including psychotic-like (PLEs). In this study, we aimed to test effects traumatic life events (TLEs) on a severity PLEs.We assessed TLEs, cognitive biases, PLEs as well catechol-O-methyltransferase (COMT) rs4680 dopamine D2 receptor (DRD2) rs6277 gene...
Data presented in a number of recent studies have revealed negative correlation between CpG island methylator phenotype (CIMP) and chromosomal instability (CIN) measured by loss heterozygosity (LOH) selected loci, suggesting that CIN CIMP represent two independent mechanisms sporadic colorectal cancer (CRC) carcinogenesis. However, is heterogeneous phenomenon, which may be studied not only employing LOH analysis but also observing imbalances (gains deletions). The current study aimed to...
In this study, we aimed to investigate the effects of polymorphisms in genes encoding 1-carbon metabolism enzymes on differential development metabolic parameters during 12 weeks treatment with second-generation antipsychotics first-episode schizophrenia patients.The following were genotyped: MTHFR (C677T and A1298C), MTHFD1 (G1958A), MTRR (A66G), BHMT (G742A). A broad panel including body mass index, waist circumference, total cholesterol low high density lipoproteins, triglycerides,...
Common variations of the FKBP5 gene are implicated in psychotic disorders, by modulating hypothalamic–pituitary–adrenal axis reactivity to stress. It has been demonstrated that some them might moderate effects childhood trauma on psychosis proneness. However, these associations have not investigated with respect traumatic life events (TLEs). Therefore, we aimed explore whether polymorphisms TLEs level psychotic-like experiences (PLEs). A total 535 non-clinical adults were approached for...
Background Small supernumerary marker chromosomes are structurally rearranged that can be formed from different chromosomal fragments and cannot identified using banding analysis. Their examination has to complemented by additional analyses like fluorescent in situ hybridization or array comparative genomic hybridization. Methods We report on partial hexasomy of chromosome 13q a fetus pregnant woman referred genetic counseling because increased fetal nuchal translucency risk trisomy 21 18...