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Molecular Medicine
Found: 72
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. Glycogen storage disease (GSD) type Ib is caused by mutations in the SLC37A4 gene. The aim of the study. To verify the diagnosis by molecular genetic studies. Patient. Child at the age of 5 years and 8 months with severe hepatomegaly, nephromegal…
Introduction. Penicillins and macrolides are applied for the treatment of both diphtheria carriers, in the comprehensive therapy of separate forms of diphtheria, and patients with invasive diseases caused by nontoxigenic C. diphtheriae. In the 1990s there was …
Introduction. EGFR mutation and EML4-ALK fusion are the most clinically significant genetic alterations in non-small cell lung cancer. Numerous studies have been devoted to EGFR mutations and their association with phenotypic clinical and pathological characte…
Introduction. Russian population of Mycobacterium tuberculosis includes both highly virulent and less virulent strains; the Ural genotype makes an example of the latters. The aim of study was investigation of the most significant synonymous and non-synonymous …
Renal cancer is among the most common oncourological diseases, and represents a heterogeneous group of tumors, which up to 80% is a clear cell renal cancer (CCRC). The study of rare hereditary forms of CCRC led to identification of the VHL gene; germinal VHL m…
Introduction. The ACTA2 gene encodes α-actin in aortic smooth muscle cells, and its mutations may cause thoracic aortic aneurysms. Analysis of ACTA2 polymorphism can be used in a complex risk assessment of non-familial thoracic aortic aneurysms. The aim of the…
Introduction. Currently, in the pathogenesis of various diseases have been intensively studied the structure and function of innate immune receptors, a special role played by a Toll-like receptors (TLR). In the recent literature there are no comprehensive stud…
The literature review provides information on the molecular biology of low-grade malignancy gliomas (LGMG) in children and adolescents. The data on specific genetic aberrations in pilocytic astrocytoma, pleomorphic xantoastrocytoma, subependimal giant cell ast…
Introduction. Binding of the human immunodeficiency virus (HIV) envelope gp120 glycoprotein to CD4 and CCR5 receptors on the cell membrane initiates the viral entry process. Simultaneous expression of these two receptors has been observed on T-lymphocytes, mon…
Introduction. Mutations in the tumor suppressor gene TP53 are observed approximately in the half of all human malignancies. In bladder cancer (BC), ТР53 molecular alterations were shown to be associated with more aggressive tumor phenotype; however their clini…
Introduction. Most cases of gastric cancer (GC) occur sporadically. Until recently, diffuse hereditary gastric cancer associated with the CDH1 gene mutations was considered the only hereditary form (about 1–3% of all tumors of the stomach). However, a signific…
Introduction. KRAS mutations play a critical role in human tumorigenesis and are the most prevalent in colorectal cancer. Because KRAS is the most frequently mutated factor downstream of the EGFR signaling pathway, it was considered to be a candidate molecular…
Introduction. The phenomenon of drug resistance of Mycobacterium tuberculosis complex is extremely complicated. The determination of the genetic changes is not always able to explain reasons of this effect clearly. The aim of the study. Molecular genetic analy…
Introduction. Gastrointestinal stromal tumors (GISTs), the most common mesenchymal tumors of GI tract, are characterized by KIT and PDGFRA activating mutations that are predictive factors. KIT and PDGFRA mutations are present in 85% of GISTs and are associated…
Hepatocellular carcinoma (HCC) is the most prevalent form of malignant liver cancer characterized by late detection time and highly aggressiveness. The main risk factors for HCC development are chronic infections of hepatitis B and C viruses, cirrhosis, liver …
The key role in the achievement of the main goals of personalized medicine in oncology i.e. treatment choice according to patient’s individual characteristics and biological properties of the tumor belongs to tumor molecular markers characterizing the specific…
The formation of properties promoting malignant transformation begins before the appearance of tumor cells at the level of inflammatory and precancerous processes. The basis for these properties is genomic instability of tumor cells. Genetic instability manife…
Gastric cancer (GC) arises through a multistep process characterized by the progressive accumulation of molecular alterations of tumor cells that is involving genetic and epigenetic mechanisms. GC is a very complex and heterogeneous disease, and although much …
Introduction. Colorectal cancer (CRC) often metastasizes even if the tumor is small in size that is the main cause of death. Complex process of epithelial-mesenchymal transition (EMT) is required for dissemination of tumor cells. EMT leads to the transformatio…