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Molecular Medicine
Found: 71
Introduction. The origin of the genetic predisposition to family adenomatous polyposis is associated with functional disorders of the repair system. The molecular mechanism of this phenomenon is not sufficiently studied and need clarification. The aim of the s…
Introduction. Age-related macular degeneration (AMD), in particular, its exudative form, has for many years held a leading position in the causes of the loss of visual acuity and leads to blindness in 90% of elderly cases. The loss of central vision is based o…
Introduction. Mass genotyping, aimed both at identifying of genetic characteristics of populations and the creation of genomic libraries, scientific research, was implemented on large samples, required the accumulation and/or conservation of samples of the bio…
The aim of the study is an investigation of the association between mutations A1744S of MYH7, 9928_9929insE of TTN, T171M of CACNA1C, A189T of JPH2, S434Y of VCL, H4552R of RYR2, Y1495X of SCN5A and the sudden cardiac death (SCD). Investigating mutations were …
The aim of the study was to analyze two single nucleotide substitutions in the NOS2 (rs2779249, c-1290G>T, 5'-region) and NOS3 (rs2070744, c-813C>T, in tron 1) genes in psoriasis patients. Materials and methods. DNA samples from 88 psoriasis patients and 365 c…
Introduction. The aim of this study to determine carrier frequencies of polymorphic markers G1846A (CYP2D6*4) and C100T (CYP2D6*10) of the CYP2D6 gene in coronary heart disease (CHD) patients in Russian and Yakut ethnic groups. The association between theadmin…
Introduction. Proton pump inhibitors (PPI) are widely spread as antisecretory drugs for a treatment of acid diseases, such as the gastric ulcer. Most of the proton pump inhibitors are inactivated in the liver by cytochromes P450 2C19 (CYP2C19) to the form of i…
Introduction. The study of the prevalence of genetic risk factors for thrombosis-associated diseases in the indigenous population of Siberia is an important issue in current medicine. The aim of the study. The aim of this work is to study the allele frequencie…
ntroduction. The aim of this study was to determine the prevalence rate of CYP2C19 alleles, associated with the risk of the resistance to clopidogrel and the development of thrombotic complications in patients with acute coronary syndrome (ACS) from Russian an…
Introduction. Papillary thyroid cancer (PTC) is the most common malignancy of the endocrine system. As the most frequent genetic alteration BRAF V600E mutation in PTC leads to changes in the activity of intracellular signaling pathways. As a result, expression…
Introduction. Carrier protein OATP1B1, encoded by the SLCO1B1gene, is involved in the transport of simvastatin into liver cells. SLCO1B1 gene polymorphisms influence on the functionality of the transporter, which could reflect on the efficacy and safety of tre…
Introduction. Erysipelas is characterized by consistently high morbidity rate, pronounced tendency to recur, the frequent change of lymph circulation, formation of secondary elephantiasis and others symptoms. The prediction of the course of erysipelas is unres…
Association of adrenergic receptors gene polymorphisms in overweight persons has been shown by Gagnon J. et al. in 1996. For the locus Trp64Arg (rs4994) β3-adrenoceptor gene was shown to be associated with the risk of obesity, confirmed by the works of a numbe…
Introduction. Currently questions on the role of genes polymorphism that regulate metabolism and implicated in metabolic disorders are disputed. Objective. The study of proteomic and metabolomic manifestations of different variants of apolipoprotein E genes po…
Introduction. Valvular calcification precedes the development of valvular stenosis. Currently, there being no way to effectively prevent the valvular heart disease progression, and valve replacement remains to be the only treatment option. Aim. To investigate …
Introduction. Pathogenesis of infective endocarditis (IE) is not quite clear till now. In last years research of variants of the genes connected with pathogenesis of IE was performed. The aim. The investigation of IE association with gene single-nucleotide pol…
Introduction. Irinotekan is widely used in the treatment of oncological diseases and allows to achieve the objective answer in 35–70% of cases depending on the applied schedule of the treatment. Individual toxicity of a preparation for patients is determined b…
Introduction. Atherosclerosis, manifesting itself as acute coronary syndrome, stroke, and peripheral artery disease, is a chronic progressive inflammatory disease driven by both innate and adaptive immunity. As Triggering Receptor Expressed on Myeloid Cells-1 …
Aim is to evaluate distribution and clinical significance of gene CYP2C19 polymorfism in ST-segment elevation myocardial infarction (STEMI) patients. Materials and methods. A total of 159 patients were encluded in this study. All of them underwent primary PCI.…
Introduction. Osteoartitis (OA) is the polyetiological disease pathogenesis of which is not fully understood. One of the risk factors for osteoarthritis may be connective tissue dysplasia, which is based on genetic defects of cartilage structures. The aim is t…