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Molecular Medicine
Found: 71
Introduction.The rs8175347 ((TA)5/6/7/8) in the UGT1A1 gene polymorphism is associated with the expression of UDP glucuronosyltransferase 1A1 enzyme. The low enzyme activity in patients with (TA)7 and (TA)8 alleles is associated with the risk of Gilbert syndro…
«Nothing in biomedicine makes sense except in the light of evolution». From this point of view, genetics of predispositions hasto answer two basic questions: 1. Is the natural genetic polymorphism identified with modern genomics proved to be the result of neut…
Introduction.SLCO1B1 encodes the organic anion–transporting polypeptide which has been shown to regulate the hepatic uptake of statins. SLCO1B1*5 genetic variant is associated with statin-induced myopathy. The aim of the study. Aim of the study is to research …
Genetically determined diversity in the activity of enzymes regulating the biotransformation of drugs and xenobiotics - cytochrome P450 (CYP) is one of the main causes of interindividual differences in the response of pharmacotherapy. The objective of this rev…
We have studied BDNF gene Val66Met polymorphism in patients with a high risk of mortality due to stroke or severe head injury. Genotype ValVal rate was higher than that of in the control group in the total sample of subjects (75,5% and 63,6%; χ2=4,63; df=1; p=…
Aim. To study a method of risk assessment neovascular age-related macular degeneration (AMD) with the genetic and clinical risk factors. Methods. The study included 255 patients with neovascular AMD (NVAMD) and 119 subjects in control group. Diagnosis and stag…
The results of the study of endothelin-1(Lys198Asn) polymorphism in Transbaikalia region in patients of russian and buryat nationality with peripheral vitreoretinal degeneration are presented. In patients the frequency of Asn-allele is higher than in healthy c…
Summary. Polymorphism of cytokine genes IL-2 (T330G), IL-10 (S819T) and IL10 (G1082A) in chronic viral hepatitis C. The analysis of the frequency of occurrence T330G polymorphism in the promoter region of the gene IL-2, S819T and G1082A promoter region of IL-1…
Early diagnosis of ovarian cancer (OC) remains to be the actual problem in modern oncology due to the high mortality rate, asymptomatic course of the disease in the early stages and its aggressiveness. The aim was to study the genetic polymorphism of pathogene…
The associations of polymorphic markers of the xenobiotics – metabolizing genes (GSTТI, GSTМI, GSTPI), cell cycle regulation genes (ТР53,CDKNI) and of the gene XRCCI repairing damaged DNA bases in 54 healthy subjects and 50 patients with upper respiratory trac…
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…