Search Results - M. L. Filipenko

Development of next generation sequencing technologies allows to identify a large number of genetic landscape types in various cancers including breast cancer. Frequent genetic abnormalities identified using whole genome sequencing are point mutations (missense, nonsense mutations), deletions, inser...

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Background. The first-generation trk inhibitors, larotrectinib and entrectinib, were approved by the u.s. Food and drug administration (Fda) for the treatment of advanced solid tumors harboring NTRK gene fusions in November 2018 and in august 2019, respectively. The purpose of the study was to prese...

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Aim. To study the associations between polymorphic variants of hemostasis protein-coding genes, hemostasis system functioning, and atherothrombosis development in patients with cardiovascular disease (CVD). Material and methods. The study included 76 patients. Polymorphic gene marker alleles were an...

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Investigation of the frequencies of functionally signif icant gene variants in the context of medical biology and gene geography is a relevant issue for studying the genetic structure of human populations. The transition from a traditional to an urbanized lifestyle leads to a higher incidence of civ...

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The study of the gene polymorphism of the system of biotransformation of xenobiotics is an important area of modern medical and genetic research. The aim of this work is to study the frequency of the alleles of the CYP1A1 (A2455G (*2C), rs1048943), CYP2D6 (A2549del (*3), rs35742686); G1846A (*4), rs...

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Lipid metabolism disorders underlie the pathogenesis of a number of diseases. Indigenous peoples of Siberia have a specific genetically determined type of metabolism supporting such lipid blood parameters that favor increased consumption (in comparison with Caucasians) of animal products. At the sam...

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Relevance. In the Omsk region in 2005 - 2014 tended to decrease morbidity of tuberculosis infection. However, the dynamics of tuberculosis with multidrug resistance was characterized by a moderate upward trend from 29.6 to 38.3 per 100 thousand population (P < 0.05). Goal. Characteristics of the...

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The aim. To evaluate the association of fibrinogen (FGB), tumor necrosis factor α (TNFα), interleukin 1β (IL-1β), lipoprotein lipase (LPL), platelet glycoprotein (ITGB3), and transforming growth factor β (TGFB1) genes  with the incidence of recurrent myocardial infarction (MI) in patients living in...

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The work concerns a polymorphism of the cytochrome Р450 CYP1A1 gene, the CYP1A1*2C variant (Ile462Val, rs1048943). This substitution results in a two- fold increase in enzyme activity, which leads to accumulation of active intermediates and increases the risk of DNA mutations and chemically induced...

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Aim. To study the effects of eNOS gene polymorphisms (Glu298Asp and VNTR intron 4) on endothelial dysfunction (ED) development, chronic heart failure (CHF) severity and progression in patients with coronary heart disease (CHD) and arterial hypertension (AH).Material and methods. In total, 165 CHF pa...

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Apart from already established clinical factors, the polymorphic loci of the VEGF gene and its VEGFR2 receptor can have a significant effect on the response to anti-VEGF therapy of diabetic macular edema. The aim was to study the association of single nucleotide polymorphic loci of VEGF and VEGFR2 g...

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In this work, we used a reference population of newborns and sampled dried blood spots on Guthrie cards of 2,739 individual samples to determine the reference intervals for TRECs and KRECs values, in order to diagnose primary immunodeficiency by means of neonatal screening. The median absolute value...

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Allelic variants of genes involved in spermatogenesis can contribute to the genetic predisposition to idiopathic male infertility. In the present study we investigated the association of polymorphism rs3088232 in the BRDT gene with the risk of this pathology on the sample of 105 infertile patients a...

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The relationship between the HLA-G gene polymorphism (rs41551813, rs12722477, rs41557518), intrauterine infection and recurrent miscarriage (RM) in women were studied. The case group consisted of 180 patients with RM, defined as two or more consecutive miscarriages (min = 2; max = 8) at up to 20 wee...

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Associations between IL1B (rs1143634), IL1RN (VNTR, intron 2), IL4 (VNTR, intron 3), TNFA (rs1800629, rs361525), IL6 (rs1800795), and IL10 (rs1800896) genetic polymorphisms in women with recurrent miscarriage (RM) were analyzed. We studied DNA samples of 112 women with RM and 267 women with physiolo...

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The influence of polymorphic substitutions in antioxidant system genes (SNPsrs1050450 in the GPX1 gene, rs1695 and rs1138272 in the GSTP1gene and rs4880 in the MnSOD gene) on the risk of prostate cancer development in men living in the Siberian region of Russia was studied. The relationship between...

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Primary immunodeficiencies (PID) such as severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia are characterized by the lack of functional Tand B-cells, respectively. Without early diagnosis and prompt treatment children with PID suffer from severe infectious diseases, leading to t...

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The purpose of the study was to compare and analyze the levels of KREC (kappa-deleting recombination excision circle) and TREC (T cell receptor excision circle) levels, which indirectly reflect impaired maturation of T and/or B lymphocytes, in children of the medical and biological risk group and th...

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Introduction. Studies on non-metastatic colorectal cancer have demonstrated the prognostic role of circulating tumor (ctDNA) after surgery, and the ability to identify patients with the greatest risk of progression. This makes it possible in the future to personalize neoadjuvant and adjuvant treatme...

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Timely diagnosis of immunodeficiency states (IDS) in children still presents significant issues, especially, when they develop due to failure of the thymus. Thymus pathology may be caused not only by fetogenetic reasons, but also by premature age-related involution caused by the impact of “excessive...

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