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Molecular Medicine
Found: 37
Introduction. Obesity can no longer be adequately described by body mass index alone. Similar BMI values may coexist with different fat distribution, inflammatory burden, neuroendocrine dysregulation, psychobehavioral traits, and risks of organ dysfunction. Ob…
Relevance. Iron deficiency anemia is a disease present all over the world and maintaining a high incidence rate of both general and primary morbidity despite various options for correction and prevention of this pathology. Molecular genotyping opens up new pos…
Introduction. Chronic heart failure is a multifactorial disease, an important role in the pathogenesis of which is played by disorders of the functions of mitochondria and energy metabolism in cardiomyocytes, as well as a significant contribution is made by ge…
Introduction. Paratraumatic eczema (PTE), being a type of microbial eczema, occurs after surgical interventions, chronic wound healing, accompanied by pronounced inflammatory changes with hyperemia, edema, exudation, soreness and itching. Genetic polymorphisms…
Introduction. Primary immunodeficiency states (PIDs) are a heterogeneous group of innate immune disorders. A feature of the clinical manifestations of PID is that they are nonspecific for specific clinical forms. With untimely diagnosis and the absence of path…
Background. Congenital heart defects can be embryopathies formed due to an imbalance in the processes of differentiation and proliferation in cardiac progenitor cells. One of the reasons for these disorders may be genetically restricted signaling, including th…
Introduction. Single nucleotide polymorphisms rs34643859 of the KCNS1 gene, rs12804550 of the SCN4B gene, and rs4514993 of the SCN11A gene were revealed in the analysis of the results of whole exome sequencing of a group of young man died by sudden cardiac dea…
Introduction: nonalcoholic fatty liver disease (NAFLD) is the most common liver disease worldwide. But it remains unclear what factors influence the progression of the disease. It is interesting to study the influence of the genetic aspect on the course of NAF…
Introduction. The single-nucleotide polymorphisms rs75555045 and rs12904699 were found in the own genome-wide allelotyping as possible new molecular genetic markers of sudden cardiac death (SCD). The results obtained in such studies require verification in the…
Background. Lung cancer is the most frequent cause of cancer mortality. The prevailing type is non-small cell lung cancer (NSCLC), in the treatment of which EGFR tyrosine kinase inhibitors are actively used, as well as a combination of BRAF and MEK inhibitors.…
Congenital adrenal hyperplasia (CAH) is a group of disorders caused by mutations in genes that encode steroidogenic enzymes. The most frequent form of CAH is caused by defects in CYP21A2 gene leading to 21-hydroxylase deficiency (21-OHD). There are 3 clinical …
Introduction. The quantitative determination and isotyping of autoantibodies to a clinically significant protein – glutathione-S-transferase (GST) in blood serum samples is relevant for monitoring and predicting the dynamics of autoimmune processes. The aim of…
Introduction. The laboratory diagnosis of celiac disease is based on the detection of antibodies against deamidated gliadin peptides (anti-DGP), autoantibodies to tissue transglutaminase (anti-tTG) and endomysium (AEA), as well as genotyping of HLA-DQ2/8 loci.…
Introduction. The genetically determined tendency of patients to thrombosis may be one of the etiopathophysiological factors of the infective endocarditis (IE). Aim. А search for variants of genes and their combinations in the hemostatic system, the carriage o…
Aim. To study the intergenic interaction and estimate the contribution of polymorphic loci p.K23E (rs5219, KCNJ11), g.15661G>T (rs1501299, ADIPOQ), p.V109D (rs2274907, ITLN1), g.2453G>A (rs7799039, LEP), g.53341C>T (rs7903146, TCF7L2), and p.P12A (rs1801282, P…
Introduction. In this research the frequency of variant alleles of genes for xenobiotic biotransformation in women living in a highly urbanized region of Western Siberia and having children with congenital heart diseases was studied. Materials and methods. Wom…
Background. Genotyping of the tumor samples is necessary for a personalized approach in the treatment of patients with malignancies. The identification of somatic mutations in EGFR and KRAS genes can help to predict the course of the disease and to individuali…
Introduction. New technologies of DNA genotyping and sequencing contribute to the rapid accumulation of our knowledge about human genomic variations and search for inherited determinants of complex genetic traits. There is a large amount of data on association…
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 …