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Molecular Medicine
Found: 113
Introduction. Rett syndrome (RTT) is the most common genetic syndrome underlying mental retardation and autism in girls. Etiology of this disorder is related to mutation in the MECP2 gene. However, there are many cases of this disease without the MECP2 mutatio…
Introduction. Diagnosis of genomic and chromosomal anomalies is based on the application of cytogenetic and molecular technologies. The aim of the study. The objective of the work was the delivery and the use of the algorythm for diagnosis of structural genomi…
Genomic and molecular genetic studies of autism can identify new biological markers to determine the etiology and the molecular and cellular mechanisms of the pathogenesis of this disease. In addition to the fundamental importance of this research the laborato…
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 …
Introduction.Uveal melanoma (UM) is one of the most frequent intraocular tumors. Mutations in new oncogenes GNAQ and GNA11 are found in more than 50% of UM. GNAQ gene and its homologue GNA11 are coding the alpha subunit of heterotrimeric G-protein with GTPase …
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…
Based on literature and own data the role of genotoxic events in nosogenesis of hereditary, congenital and somatic diseases is considered. Special emphasis is paid to the analysis of significance of premutagenic DNA lesions and as well induced gene mutations i…
The influence of the DNA minor groove binding ligands on epigenetic silencing in eukaryotic human cells has been demonstrated for the first time. Using HeLa cell population that harbors silent GFP-reporter gene under control of the CMV promoter we demonstrated…
Last successful results in target therapy of cancer were achieved with different tyrosine kinases inhibitors (TKI). Target therapy of non-small cell lung cancer (NSCLC) with EGFR inhibitors gefitinib and erlotinib is effective only in patients with somatic mut…
Argirophilic proteins of nucleolar organizer regions (Ag-NOR) pose a wide group of nucleolar proteins specifically stained by AgNO3. Expression level of Ag-NOR proteins in proliferating cells, including tumor ones, is commonly high. Nucleophosmin/B23 and nucle…
In this review the recent data regarding cancer stem cells (CSCs), the mechanisms of their drug resistance and the development of novel anti-CSC therapies are summarized. Recent studies suggest that salinomycin has selective toxicity for CSCs. Salinomycin is a…
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…
The purpose of this study was to determine the influence of transcardial perfusion, as well as social hierarchy in male mice, on the level of gene expression in the cerebral cortex of mice using the example of the proinflammatory cytokine IL-1β. Material and m…