A5056241512- RNA Research and Splicing
- Lipoproteins and Cardiovascular Health
- Cardiomyopathy and Myosin Studies
- RNA and protein synthesis mechanisms
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genomics and Chromatin Dynamics
- Nutrition, Genetics, and Disease
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Congenital heart defects research
- RNA modifications and cancer
- Cancer-related molecular mechanisms research
- Cystic Fibrosis Research Advances
- Muscle Physiology and Disorders
- Lipid metabolism and disorders
- MicroRNA in disease regulation
- Cancer, Lipids, and Metabolism
- CRISPR and Genetic Engineering
- Cardiovascular Disease and Adiposity
- Extracellular vesicles in disease
- Cardiac electrophysiology and arrhythmias
- Cardiovascular Health and Risk Factors
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- Cellular Mechanics and Interactions
National Research Center for Preventive Medicine
2017-2025
Lomonosov Moscow State University
2016-2025
Institute for Information Transmission Problems
2019-2025
Vavilov Institute of General Genetics
2024-2025
Ministry of Health of the Russian Federation
2017-2025
Moscow State University
2022-2024
Institute of Gene Biology
2019-2020
Familial hypercholesterolemia (FH) is a common autosomal codominant disorder, characterized by elevated low-density lipoprotein cholesterol levels causing premature atherosclerotic cardiovascular disease. About 2900 variants of LDLR, APOB, and PCSK9 genes potentially associated with FH have been described earlier. Nevertheless, the genetics in Russian population poorly understood. The aim this study to present data on spectrum gene cohort 595 index patients FH, as well an additional...
Mesenchymal stromal cells (MSC) are widely recognized as potential effectors in neuroprotective therapy.The protective properties of MSC were considered to be associated with the secretion extracellular vesicles (MSC-EV).We explored effects MSC-EV vivo on models traumatic and hypoxia-ischemia (HI) brain injury.Neuroprotective mechanisms triggered by also studied vitro using a primary neuroglial culture.Intranasal administration reduced volume damage, correlating recovery sensorimotor...
Uremic retention solutes are the compounds that accumulate in blood when kidney excretory function is impaired. Some of these toxic at high concentrations and usually known as "uremic toxins". The cumulative detrimental effect uremic toxins results numerous health problems eventually mortality during acute or chronic uremia, especially end-stage renal disease. More than 100 different increase uremia; however, exact origin for most them still debatable. There three main sources such...
Extracellular vesicles (EV) derived from stem cells have become an effective complement to the use in cell therapy of themselves, which has led explosion research into mechanisms vesicle formation and their action. There is evidence demonstrating presence mitochondrial components EV, but a definitive conclusion about whether EV contains fully functional mitochondria not yet been made. In this study, two fractions mesenchymal stromal (MSC) separated by size were examined. Flow cytometry...
Abstract SARS-CoV-2 can infiltrate the lower respiratory tract, resulting in severe failure and a high death rate. Normally, airway alveolar epithelium be rapidly reconstituted by multipotent stem cells after episodes of infection. Here, we analyzed published RNA-seq datasets demonstrated that four different lung epithelial cell types express entry factors, including Ace2 . Thus, potentially infected SARS-CoV-2, which may lead to defects regeneration capacity partially accounting for...
Abstract Non-coding RNAs (ncRNAs) participate in various biological processes, including regulating transcription and sustaining genome 3D organization. Here, we present a method termed Red-C that exploits proximity ligation to identify contacts with the for all RNA molecules nucleus. Using Red-C, uncovered RNA–DNA interactome of human K562 cells identified hundreds ncRNAs enriched active or repressed chromatin, previously undescribed RNAs. Analysis also allowed us trace kinetics messenger...
Aim. To evaluate the information content of genetic risk scores (GRSs) for coronary artery disease (CAD), previously developed on European populations, in representatives Russian population. Material and methods . The work involved 1685 people from ESSE-Ivanovo epidemiological study. CAD was verified 3,1% individuals. composite endpoint assessed annually during 8-year follow-up. Next generation sequencing performed using a targeted panel. Logistic regression analysis area under ROC curve...
At the moment, many non-coding RNAs that perform a variety of functions in regulation chromatin processes are known. An increasing number protocols allow researchers to study RNA-DNA interactions and shed light on new aspects RNA–chromatin interactome. The Hi-C protocol, which enables chromatin’s three-dimensional organization, has already led numerous discoveries field genome 3D organization. We conducted comprehensive joint analysis interactome structure across different human mouse cell...
Abstract RNA–chromatin interactome data are considered to be one of the noisiest types in biology. This is due protein-coding RNA contacts and nonspecific interactions between chromatin caused by protocol specifics. Therefore, finding regulatory certain transcripts genome loci requires a wide range filtering techniques obtain significant results. Using on pairwise these molecules, we propose concept triad interaction involving RNA, protein, DNA locus. The constructed triads show...
We performed a targeted sequencing of 242 clinically important genes mostly associated with cardiovascular diseases in representative population sample 1,658 individuals from the Ivanovo region northeast Moscow. Approximately 11% 11,876 detected variants were not found Single Nucleotide Polymorphism Database (dbSNP) or reported earlier Russian population. Most novel singletons and doubletons our sample, virtually no alleles presumably specific for able to reach frequencies above 0.1-0.2%....
Every year there is more and evidence that non-coding RNAs play an important role in biological processes affecting various levels of organization living systems: from the cellular (regulation gene expression, remodeling maintenance chromatin structure, co-transcriptional suppression transposons, splicing, post-transcriptional RNA modifications, etc.) to cell populations even organismal ones (development, aging, cancer, cardiovascular many other diseases). The development creation mutually...
Left ventricular noncompaction (LVNC) cardiomyopathy is a disorder that can be complicated by heart failure, arrhythmias, thromboembolism, and sudden cardiac death. The aim of this study to clarify the genetic landscape LVNC in large cohort well-phenotyped Russian patients with LVNC, including 48 families (n=214). All index underwent clinical examination analysis, as well family members who agreed participate and/or testing. testing included next generation sequencing classification...
Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies. However, it is unknown, whether DES mutations left ventricular hypertrabeculation (LVHT). Here, we performed a clinical examination and subsequent genetic analysis family, two individuals presenting LVHT conduction disease myopathy. The revealed novel small in-frame deletion within the gene, p.Q113_L115del, affecting α-helical rod domain. Immunohistochemistry explanted...
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely mutation in the desmosomal genes. However, there is significant number without positive familial anamnesis. Therefore, molecular reasons for ACM these are frequently unknown and genetic contribution might be underestimated. Here, we used next-generation sequencing (NGS) approach addition single nucleotide polymor-phism (SNP) arrays analysis two independent index medical history. Of note, this strategy...
Aim. To investigate the association of 10 circulating plasma microRNAs with collateral flow degree in chronic total occlusion (CTO) patients coronary artery disease (CAD). Materials and methods. Plasma expression levels miRNAs were measured by real-time PCR using Taqman technology a sample 43 subjects. The study included CAD CTO good (n=13) or poor (n=10) circulation (CCC) based on Rentrop classification control group without significant stenosis (n=20). Results. Significant differences...
Parkinson’s disease (PD) is a widespread neuronal degenerative disorder with unexplored etiology. It associated various pathological events. In particular, the prefrontal cortex Brodmann area 9 (BA9) region affected in PD. This frontal lobe brain plays an important role cognitive, motor, and memory-related functions. BA9 develops Lewy bodies PD patients shows essential changes transcriptome proteome, connected mitochondria related pathways, protein folding metallothioneins. Recently, altered...
Familial dysbetalipoproteinemia (FD) is a highly atherogenic genetically based lipid disorder with an underestimated actual prevalence. In recent years, several biochemical algorithms have been developed to diagnose FD using available laboratory tests. The practical applicability of diagnostic criteria and the prevalence in Russia not previously assessed. We demonstrated that FD, including apoB levels, require correction, taking into account distribution levels population. At same time,...
A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated three-generation family cardiomyopathy and various extracardiac abnormalities that had long sought precise diagnosis. The 41-year-old proband hypertrophic (HCM), left ventricular noncompaction, myocardial fibrosis, arrhythmias, short stature. His sister showed HCM, hypertrabeculation sensorineural deafness, congenital genitourinary malformations. Their father...
Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap with other types cardiomyopathies, in particular, hypertrophic cardiomyopathy. Study accumulation genotype–phenotype correlations are way to improve precision our diagnostics. We present familial case LVNC arrhythmic thrombotic complications, myocardial fibrosis heart failure, cosegregating splicing variant FHOD3 gene. This first...
Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left dysfunction, which characterized by two-layer structure of the myocardium and an increased number trabeculae. The study familial forms LVNC helpful for risk prediction genetic counseling relatives. Here, we present family consisting three members LVNC. Using next-generation sequencing approach combination two (likely) pathogenic nonsense mutations DSG2-p.S363X TBX20-p.D278X was identified in...
Aim. To validate and evaluate the accuracy of 4 genetic risk scores (GRSs) for hypertension (HTN), previously created on European samples, a population sample Ivanovo Oblast. Material methods . For analysis, targeted next-generation sequencing was used Central Russia (n=1682) based biobank collection. Four GRSs associated with HTN, developed population, were selected validation. The coefficient determination area under ROC curve as quality metrics regression models. Additional validation...
Aim . To search associations for lipid profile parameters (lowand highdensity lipoprotein cholesterol levels, triglycerides and total cholesterol) in population samples from two Russian regions make a replication analysis of previously published genome-wide association study (GWA study, GWAS) residents three other regions. Material methods The included representative the Vologda (n=689) Ivanovo (n=1675) collected Epidemiology Cardiovascular Diseases their Risk Factors Regions Federation...
Chromatin-associated non-coding RNAs play important roles in various cellular processes by targeting genomic loci. Two types of genome-wide NGS experiments exist to detect such targets: 'one-to-al', which focuses on targets a single RNA, and 'all-to-al', captures all sample. As with many experiments, they are prone biases noise, so it becomes essential 'peaks'-specific interactions an RNA targets. Here, we present BaRDIC-Binomial RNA-DNA Interaction Caller-a tailored method peaks both...