A5003970333- Genetic factors in colorectal cancer
- Genetics and Neurodevelopmental Disorders
- Endometriosis Research and Treatment
- Axon Guidance and Neuronal Signaling
- Glutathione Transferases and Polymorphisms
- Reproductive System and Pregnancy
- Chemical Reactions and Isotopes
- Pregnancy and preeclampsia studies
- S100 Proteins and Annexins
- Genomics and Rare Diseases
- Colorectal Cancer Treatments and Studies
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Autism Spectrum Disorder Research
- Cytokine Signaling Pathways and Interactions
- Reproductive Physiology in Livestock
- Bladder and Urothelial Cancer Treatments
- Protein Tyrosine Phosphatases
- Cancer-related Molecular Pathways
- Cancer Research and Treatment
- Epigenetics and DNA Methylation
- Hereditary Neurological Disorders
- DNA Repair Mechanisms
- Medical and Biological Sciences
- Nutrition, Genetics, and Disease
- Carcinogens and Genotoxicity Assessment
Institute of Molecular Biology and Genetics
2011-2024
Taras Shevchenko National University of Kyiv
2011-2015
Keywords: bronchial asthma, detoxication system, 2-adrenoreceptor gene, polymorphism, combined genotype
We assessed the predictive ability of a combined genetic variant panel for risk recurrent pregnancy loss (RPL) through case-control study. Our study sample was from Ukraine and included 114 cases with idiopathic RPL 106 controls without any losses/complications at least one healthy child. genotyped variants within 12 loci reflecting main biological pathways involved in maintenance: blood coagulation (F2, F5, F7, GP1A), hormonal regulation (ESR1, ADRB2), endometrium placental function (ENOS,...
Aim.To evaluate a possible role of novel c.A212G substitution in the PUS3 gene at intellectual disability (ID).Methods.The observed group consisted ID Ukrainian family members (parents and two affected children) control -of 300 healthy individuals from general population Ukraine.Sanger sequencing exon 1 was performed for members.Polymorphic variants were analyzed using ARMS PCR.The homology models wild type p.Y71C mutant catalytic domains human Pus3 generated crystal structure Pus1 domain...
The study evaluated IL8 -781C/T and IL10 -592C/A, -1082A/G polymorphisms association with recurrent pregnancy loss (RPL) (n=110 case, n=106 control).IL10 -592АА genotype -1082A allele carriers frequency was higher in RPL group (6.6 %, 87.3 %) comparing to control (0.9 76.4 %). have twice increased risk (OR=2.12; CI95 %: 1,03–4,34).
Aim. Analysis the EPHA1 gene G1475A and G1891A alleles distribution in population of Ukraine, to study protein secondary structure as first step investigation involvement intellectual disability pathogenesis.Methods.Observation group consisted 300 individuals, including 164 (54.6 %) male 136 (45.3 female individuals.Polymorphic variants were detected using PCR followed by Kpn1 RFLP analysis for ARMS G1891A.Results.The data concerning genotypes allelic obtained.The low frequency 1475A allele...
The study aimed to identify the clinically relevant gene variants in colon adenocarcinoma samples of Ukrainian patients using NGS Comprehensive Cancer Panel (CCP) implement them conveniently clinical practice. Methods. We have studied 20 with colorectal adenocarcinomas various differentiation grades. To variants, CCP data were filtered Franklin by Genoox database. Results. A total 79 variant alterations (SNVs, INDELs) found 28 409 genes. largest number mutations was 3 genes, APC, TP53, and...
Aim.To investigate the possible association of LIF gene polymorphism rs929271 with mild intellectual disability (ID).Methods.The group patients (IQ score between 50 and 70) idiopathic consisted 64 individuals including 40 (62.5 %) males 24 (47.5 females.The control 238 healthy volunteers from different regions Ukraine.Polymorphic variants were detected using PCR followed by Hinf1 RFLP analysis.Results.The data concerning genotypes allelic distribution in ID obtained.Statistical analysis...
Aim.To investigate a possible association of the EPHA1 gene polymorphism with mild intellectual disability (ID).Methods.The group patients (IQ score between 50 and 70) idiopathic consisted 65 individuals including 41 (63.1 %) males 24 (36.9 females.The control 250 healthy volunteers from different regions Ukraine.The genotyping was performed using PCR followed by RFLP analysis for rs11768549, rs11767557, rs11771145 ARMS novel c.1891G>A mutation.Results.The data concerning genotypes allelic...
Abstract Recurrent pregnancy loss (RPL) affects nearly 5% of the women reproductive age. Its heterogeneous and multifactorial nature complicate both diagnosis treatment, as well identification genetic contribution to RPL. Evidence about aetiology RPL is controversial; however, several biological mechanisms have been proposed. Given current knowledge susceptibility idiopathic RPL, we aimed evaluate predictive ability a combined variant panel risk in Ukrainian sample 114 cases 106 healthy...
ASSOCIATION OF THE EPHA1 AND PARP1 GENES POLYMORPHISMS WITH ALZHEIMER’S DISEASE