Background: According to estimates of the World Health Organization, 40-50 thousand children worldwide are born each year with cystic fibrosis (CF), a monogenic disease with genetic heterogeneity and ...
Background: Heart rate variability as a demonstration of autonomic nervous system function reflects human health and well-being. By monitoring heart rate variability indices and focusing on the imbalance ...
Background: Type 2 diabetes mellitus (T2DM) is an expanding global health problem of the 21st century. There has been a global increase in the number of patients with T2DM. ...
Background: Peptic ulcer disease (PUD) is a chronic recurrent disease that occurs with alternating periods of exacerbation and remission, the leading manifestation of which is the formation of a ...
Background: Runs of homozygosity or long contiguous stretches of homozygosity (ROHs/LCSHs) are common in the human genome. ROHs/LCSHs spanning the imprinted loci have been previously associated with neurodevelopmental disorders. ...
Background: Lung cancer has been a difficult-to-treat disease for decades, despite the efforts of oncologists and pharmaceutical companies. One of the reasons for this is the heterogeneity of the ...
Background: The infection that most often leads to cervical cancer is human papillomavirus (HPV) infection. A sign that the HPV infection might develop into cancer is mitochondrial dysfunction and ...
Background: Mendelian randomization is a research method that exploits the instrumental variable framework using genetic information to assess the causality of the relationship between modifiable risk factors and health ...
Background: Existing genetic studies on musical abilities have focused on various molecular approaches, which determined gene regions/variants implicated in (i) music perception and performance based on genome-wide linkage ...
Background: Knee osteoarthritis (KO) is a multifactorial disease. Among the many risk factors for the disease, the role of the hereditary component is undeniable. The share of genetic factors ...
Background: Gastric cancer (GC) is one of the most serious diseases, occupying a leading position among the causes of death from malignant neoplasms in the world. The Republic of ...
Background: The level of IL-1β in blood plasma is determined not only by pro-inflammatory stimuli, but also by allelic polymorphism of the IL1B and NLRP3 genes. Information on ...
Genetic determinants of sex hormone levels in endometriosis patients
Volume 9, Issue №1, 2023
Background: Endometriosis is a chronic hormone-dependent inflammatory disease determined by the presence of foci of the endometrial tissue outside the uterine cavity. Genetic factors occupy a leading ...
Polymorphic loci of AC026703.1 and HFE genes are associated with severe hypertension
Volume 9, Issue №1, 2023
Background: Hypertension (HT) is characterized by high blood pressure (BP) and is one of the most common diseases in the world. At the moment, there is information in the ...
Background: Hemorrhagic fever with renal syndrome (HFRS), caused by orthohantaviruses, occupies one of the leading places among natural focal human diseases, for which there are no modern accurate and highly ...
Knock-out of α-, β-, and γ-synuclein genes in mice leads to changes in the distribution of several lipids in the liver and blood plasma
Volume 8, Issue №4, 2022
Background: In addition to the role of synuclein proteins in synaptic transmission through binding with lipid membranes, the function of synucleins in reactions of the synthesis of lipids and ...
Association of the rs10508336 polymorphism of the TAF3 transcription factor gene with the risk of lower limb arterial disease in the Russian population
Volume 8, Issue №4, 2022
Background: Atherosclerosis obliterans (AO) and diabetic angiopathy (DA) are known to be peripheral artery diseases (PAD) of multifactorial origin, in which genetic and environmental factors play a synergetic role. ...
Molecular cytogenetic and cytopostgenomic analysis of the human genome
Volume 8, Issue №4, 2022
Background: Despite the achievements of human genomics, comprehensive genome analysis, including acquiring the knowledge about intercellular and interindividual variations at (sub)chromosomal/cytogenomic level, remains a difficult task. This basically results ...
Background: The endoribonuclease IRE1 (ERN1) is an important sensor for the endoplasmic reticulum unfolded protein response (UPR), and its activation happens as a result of the accumulation of unfolded ...
Background: Ischemic stroke (IS) is the leading cause of death and disability worldwide. Chaperone proteins protect brain cells from the ischemic damage by restoring the structures of damaged proteins. Chaperone ...
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