This website is intended for professionals in medicine and healthcare. By selecting “Confirm”, I declare that I am a member of this professional audience. I also agree to the publisher’s rules for using its information resource. Publisher’s resource rules (Russian)
Molecular Medicine
Found: 73
Introduction. Molecular genetic research methods suggest the development of certain forms of pancreatitis and its complications. Aim of the study. Identification of risk factors for the development of acute forms of pancreatitis based on molecular genetic stud…
Introduction. Multiple primary malignant neoplasms (MPMN) most often develop in individuals with a hereditary predisposition to oncological diseases. There are inherited allelic variants of oncogenes, tumor suppressor genes and their combinations which disrupt…
Introduction. Ovarian clear cell carcinoma (OCCC) is a subtype of epithelial ovarian cancer characterized by frequent mutations in the ARID1A gene and low sensitivity to standard-of-care chemotherapeutic agents. The aim of the study. To determine the role of A…
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…
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 …
Bisphosphonates (BP) is – a class of drugs that exhibit high inhibitory activity to osteoclasts. BFs are the most effective drugs recommended for the treatment of osteoporosis (OP), which is one of the common diseases of bone tissue, when the risk of bone frac…
The review is devoted to the studies of immune check-point (programmed death) molecules – PD-1 receptor and its ligands PD-L1 and PD-L2, which play an important role in the regulation of immune response. Special attention is paid to soluble (s) forms of PD-1 a…
Introduction. Hemophilia A is a frequent X-linked recessive disorder associated with the absence or functional defect of blood clotting factor VIII. Вoth point mutations and large structural rearrangements – deletions, duplications, and inversions were describ…
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 mammals, there are several populations of macrophages, developing from bone marrow progenitors and resident macrophages, developing from the embryonic precursors of the yolk. One of the reasons for the coexistence of several populations of mac…
Micro-RNAs are a group of small non-coding RNA molecules regulating target genes at the post-transcriptional level. Micro-RNAs are involved in the control of many pathophysiological processes, including dyslipidemia, the main risk factor for atherosclerosis. C…
The review presents data on the role of the nuclear factor NF-κB and the von Hippel-Lindau protein (VHL) in the development of kidney cancer. Chemo- and radioresistance, specific for renal cell carcinoma, represented a significant problem in the treatment of p…
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…
The efficacy of bronchial asthma therapy is one of the most urgent problems in allergology and pulmonology. The efficacy of leukotrienes modifiers in bronchial asthma therapy is not achieved in 35–78% cases. In addition, there are data on unwanted drug reactio…
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…
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 …
Epigenetics studies inherited mechanisms capable of modulating gene expression without altering the DNA nucleotide sequence. Until very recently, epigenetics included inherited mechanisms, such as DNA methylation and histone modification. As of today, a large …
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…