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Wyniki wyszukiwania dla: polymorphisms
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Circadian Gene Polymorphisms Associated with Breast Cancer Susceptibility
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Single nucleotide polymorphisms associated with papillary thyroid cancer
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The Effects of Single Nucleotide Polymorphisms in Cancer RNAi Therapies
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CHD7 gene polymorphisms in female patients with idiopathic scoliosis
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Vitamin D receptor gene polymorphisms in Alzheimer's disease patients
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Beta-2 adrenoreceptor gene polymorphisms and sympathetic outflow in humans
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TNF‐α polymorphisms affect persistence and progression of HBV infection
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Neurotrophin serum concentrations and polymorphisms of neurotrophins and their receptors in children with asthma
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Estrogen receptors genes polymorphisms and age at menarche in idiopathic scoliosis
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Relationship between selected DNA polymorphisms and coronary artery disease complications
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Vitamin D Metabolism Gene Polymorphisms and Their Associated Disorders: A Literature Review
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Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population
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The Relationship Between Gene Polymorphisms and Dipping Profile in Patients With Coronary Heart Disease
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Research Trends of Vitamin D Metabolism Gene Polymorphisms Based on a Bibliometric Investigation
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Association of ENAM gene single nucleotide polymorphisms with dental caries in Polish children
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Correlation between chosen polymorphisms in genes coding 5HTT, 5HT2A and COMT with obesity.
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Associations of ESR1 and ESR2 gene polymorphisms with metabolic syndrome and its components in postmenopausal women
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Prediction of Early Childhood Caries Based on Single Nucleotide Polymorphisms Using Neural Networks
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TIMP2 Polymorphisms Association With Curve Initiation and Progression of Thoracic Idiopathic Scoliosis in the Caucasian Females
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Chosen single nucleotide polymorphisms (SNPs) of enamel formation genes and dental caries in a population of Polish children
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A Potential Relationship Between Estrogen Receptors Polymorphisms, Sperm Function and in vitro Fertilization Success: A Preliminary Study*
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Prognostic Significance of ESR1 Amplification and ESR1 PvuII, CYP2C19*2, UGT2B15*2 Polymorphisms in Breast Cancer Patients
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XbaI and PvuII Polymorphisms of Estrogen Receptor 1 Gene in Females with Idiopathic Scoliosis: No Association with Occurrence or Clinical Form
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Results from a Genome-Wide Association Study (GWAS) in Mastocytosis Reveal New Gene Polymorphisms Associated with WHO Subgroups
PublikacjaMastocytosis is rare disease in which genetic predisposition is not fully understood. The aim of this study was to analyze associations between mastocytosis and single nucleotide polymorphisms (SNPs) by a genome-wide association study (GWAS) approach. A total of 234 patients were enrolled in our study, including 141 with cutaneous mastocytosis (CM; 78 children and 63 adults) and 93 with systemic mastocytosis (SM, all adults)....
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Influence of Polymorphisms in DNA Repair GenesXPD, XRCC1andMGMTon DNA Damage Induced by Gamma Radiation and its Repair in LymphocytesIn Vitro
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Tumor infiltrating lymphocyte signature is associated with single nucleotide polymorphisms and predicts survival in esophageal squamous cell carcinoma patients
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Analysis of Mitochondrial Genome from Labrador (Canis lupus familiaris) with Mammary Gland Tumour Reveals Novel Mutations and Polymorphisms
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The Lack of Association between <b><i>FCN2</i></b> Gene Promoter Region Polymorphisms and Dental Caries in Polish Children
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Single nucleotide polymorphisms in A4GALT spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system
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<b><i>CTLA4</i></b> and <b><i>CD28</i></b> Gene Polymorphisms with Respect to Affective Symptom Domain in Schizophrenia
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Searching for in vitro biomarkers of susceptibility to prostate and cervical cancers by analysis of chromosomal instability, γ-H2AX foci, polymorphisms in DNA repair genes and apoptosis
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Interferon lambda polymorphisms associate with body iron indices and hepatic expression of interferon-responsive long non-coding RNA in chronic hepatitis C
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The role of regulatory T cells and genes involved in their differentiation in pathogenesis of selected inflammatory and neoplastic skin diseases. Part III: Polymorphisms of genes involved in Tregs’ activation and function
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Molecular differences in mitochondrial DNA (mtDNA) genomes of dogs with malignant mammary tumours
Dane BadawczeThe aim of this study was to determine molecular defects in mitochondrial DNA with the use of large-scale genome analysis in malignant canine mammary gland tumours and indicate whether these changes were linked with the carcinogenesis process. With the use of the NGS technology, we sequenced 27 samples of mtDNA isolated from blood and tumours obtained...
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TRNA-Leu (UUR) gene haplotypes observed in canine mammary gland tumours and its deleterious effect assessment according to the comparative analysis with TRNL1 human gene
Dane BadawczeThe aetiology and pathogenesis of many canine tumours are likely to be similar to cancers found in humans. This study aimed to present a plausible link between changes in tRNA-Leu (UUR) gene and the carcinogenesis process in dogs with mammary gland tumours. The whole mitochondrial DNA (mtDNA) isolated from blood and tumour tissues of 13 dogs with malig-nant...
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Total impact of oxidative stress genes on cardiovascular events—a 7-year follow-up study
PublikacjaCardiovascular (CV) events are the number one cause of lifetime disability and deaths worldwide. It is well known that traditional risk factors do not fully correlate with clinical outcomes; therefore, searching for other markers that would explain CV events occurrence seems essential. Of importance, one of the main factors at the origin of CV events is oxidative stress, causing inflammation and atherosclerotic plaque instability....
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NADPH Oxidase Gene Polymorphism is Associated with Mortality and Cardiovascular Events in 7-Year Follow-Up
PublikacjaThe CYBA gene encodes the regulatory subunit of NADPH oxidase, which maintains the redox state within cells and in the blood vessels. That led us to investigate the course of coronary artery disease (CAD) with regards to CYBA polymorphisms. Thus, we recruited 1197 subjects with coronary atherosclerosis and observed them during 7-year follow-up. Three CYBA polymorphisms: c.214C>T (rs4673), c.-932G>A (rs9932581), and c.*24G>A (1049255)...
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Discrimination of hospital isolates of Acinetobacter baumannii using repeated sequences and whole genome alignment differential analysis
PublikacjaAn optimized method for bacterial strain differentiation, based on combination of Repeated Sequences and Whole Genome Alignment Differential Analysis (RS&WGADA), is presented in this report. In this analysis, 51 Acinetobacter baumannii multidrug-resistance strains from one hospital environment and patients from 14 hospital wards were classified on the basis of polymorphisms of repeated sequences located in CRISPR region, variation...
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Trimethylamine N-oxide and the reverse cholesterol transport in cardiovascular disease: a cross-sectional study
PublikacjaThe early atherosclerotic lesions develop by the accumulation of arterial foam cells derived mainly from cholesterol-loaded macrophages. Therefore, cholesterol and cholesteryl ester transfer protein (CETP) have been considered as causative in atherosclerosis. Moreover, recent studies indicate the role of trimethylamine N-oxide (TMAO) in development of cardiovascular disease (CVD). The current study aimed to investigate the association...
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The New Klebsiella pneumoniae ST152 Variants with Hypermucoviscous Phenotype Isolated from Renal Transplant Recipients with Asymptomatic Bacteriuria-Genetic Characteristics by WGS.
PublikacjaKlebsiella pneumoniae (Kp) is one of the most important etiological factors of urinary tract infections in renal transplant (RTx) recipients. We described the antimicrobial susceptibility phenotypes and genomic features of two hypermucoviscous (HM) Kp isolates recovered from RTx recipients with asymptomatic bacteriuria (ABU). Using whole genome sequencing (WGS) data, we showed that the strains belong to the ST152 lineage with the...
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Principles and applications of Ligation Mediated PCR methods for DNA-based typing of microbial organisms
PublikacjaA significant number of DNA-based techniques has been introduced into the field of microorganisms’ characterization and taxonomy. These genomic fingerprinting methods were developed to detect DNA sequence polymorphisms by using general principles, such as restriction endonuclease analysis, molecular hybridization, and PCR amplification. In recent years, some alternative techniques based on ligation of oligonucleotide adapters before...
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Małgorzata Pawłowicz dr n. med.
OsobyMałgorzata Pawłowicz MD PhD is a paediatrician and paediatric neurologist (Department of Developmental Neurology; Medical University of Gdańsk, Poland) and a resident in clinical genetics (Genetic Outpatient Clinic, Children's Memorial Health Institute in Warsaw, Poland). She studied medicine and received her Master Degree in Paediatrics and Paediatric Neurology at Medical University of Gdańsk. Dr. Pawłowicz completed her PhD studies...
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Microbial diversity of inflamed and noninflamed gut biopsy tissues in inflammatory bowel disease.
PublikacjaBACKGROUND: Inflammatory bowel disease (IBD) is a chronic gastrointestinal condition without any known cause or cure. An imbalance in normal gut biota has been identified as an important factor in the inflammatory process. METHODS: Fifty-eight biopsies from Crohn's disease (CD, n = 10), ulcerative colitis (UC, n = 15), and healthy controls (n = 16) were taken from a population-based case-control study. Automated ribosomal intergenic...
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Association of Genes Related to Oxidative Stress with the Extent of Coronary Atherosclerosis
PublikacjaOxidative stress is believed to play a critical role in atherosclerosis initiation and progression. In line with this, in a group of 1099 subjects, we determined eight single nucleotide polymorphisms (SNPs) related to oxidative stress (PON1 c.575A>G, MPO c.463G>A, SOD2 c.47T>C, GCLM c.590C>T, NOS3 c.894G>T, NOS3 c.786T>C, CYBA c.214C>T, and CYBA c.932A>G) and assessed the extent of atherosclerosis in coronary arteries based on...
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Genetic Background and Antibiotic Resistance Profiles of K. pneumoniae NDM-1 Strains Isolated from UTI, ABU, and the GI Tract, from One Hospital in Poland, in Relation to Strains Nationally and Worldwide
PublikacjaIn recent years, there has been an observed increase in infections caused by carbapenem-resistant Klebsiella pneumonia (Kp) strains. The aim of this study was the phenotypic and genotypic analysis of eight K. pneumoniae NDM (Kp NDM) isolates, recovered in Poland during the years 2016 and 2018 from seven patients with urinary tract infections (UTIs), asymptomatic bacteriuria (ABU), or colonization of the gut. PCR melting profile...
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Folate/homocysteine metabolism and lung cancer risk among smokers
PublikacjaBackground: Folate and homocysteine are involved in DNA synthesis and methylation processes, which are deregulated during carcinogenesis. Objectives: The aim of this study was to assess the relationship between folate/homocysteine concentrations, the functional polymorphisms of folate/homocysteine genes and lung cancer risk among cigarette smokers. Study design: The study included 132 lung cancer patients and 396 controls from...
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Higher responsiveness to rosuvastatin in polygenic versus monogenic hypercholesterolaemia: a propensity score analysis
PublikacjaBackground The underlying monogenic defect in familial hypercholesterolemia (FH) can be detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C) due to having inherited a greater than average number of common LDL-C raising single nucleotide polymorphisms (SNPs). Purpose We sought to investigate, whether the monogenic or polygenic defect in FH is associated with...