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Molecular Medicine
Found: 109
Ulcerative colitis and Crohn’s disease represent one of the most pressing problems of modern medicine. Even though much attention paid to the development and implementation of high-tech diagnostic methods, inflammatory bowel diseases (IBD) tend to increase in …
Introduction. Psoriasis is a chronic inflammatory autoimmune disease with complex etiology including inheritable factors as well. Some scientists suggest psoriasis to be a systemic disease affecting not only skin. Thus, on the edge of dermatology and psychiatr…
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. The androgen receptor (AR) gene MIGHR is known to be associated with transsexualism. Bone tissue is one of the target organs for androgens. Trochanteric index (TI) (ratio of height to the leg length) may indicate the organism androgenization leve…
Introduction. ATP is one of the most frequently updated molecules in the organism. The presence of a transmembrane gradient of H+ electrochemical potential is a crucial condition for the synthesis of ATP using FоF1-ATP synthase enzyme, which affects proton tra…
Introduction. Vitamin D is one of the main regulators of phosphorus-calcium metabolism. Vitamin D availability is determined by both external and genetic factors. The genetic contribution to the 25 (OH) D level is estimated to range from 23 to 77%. According t…
Introduction. The study of the genetic mechanisms of migraines is based on the investigation of genes of possible susceptibility and analysis of the influence of gene polymorphism in combination with environmental factors that form the pathogenetic chain of th…
Introduction. The telomerase reverse transcriptase gene (TERT) promoter region is frequently mutated in different types of cancer. Several studies have shown patients who carry the mutation –245T>C (rs2853669) to have a worse prognosis. The aim of the study is…
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…
Introduction. In recent years, there have been aroused and actively studied mutations associated with Toll-like receptor genes (TLRs). The emerging interest is related to the identification of many associations between the TLRs polymorphism and the development…
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. 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. 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…