A5050895140- Muscle Physiology and Disorders
- Epigenetics and DNA Methylation
- Genetics and Neurodevelopmental Disorders
- RNA and protein synthesis mechanisms
- GDF15 and Related Biomarkers
- RNA regulation and disease
- Genetic Neurodegenerative Diseases
- CRISPR and Genetic Engineering
- Bacteriophages and microbial interactions
- Genomics and Phylogenetic Studies
- Fetal and Pediatric Neurological Disorders
- Genetic Associations and Epidemiology
- Cardiomyopathy and Myosin Studies
- Bioinformatics and Genomic Networks
- 14-3-3 protein interactions
- Marine Invertebrate Physiology and Ecology
- Immune Cell Function and Interaction
- Virus-based gene therapy research
- Plant Virus Research Studies
- dental development and anomalies
- Genetic and rare skin diseases.
- Genomic variations and chromosomal abnormalities
- Photoreceptor and optogenetics research
- Cardiovascular Effects of Exercise
- Congenital heart defects research
Vavilov Institute of General Genetics
2010-2022
Research Centre for Medical Genetics
2019-2022
Institute of Cytology and Genetics
2015-2019
Siberian Branch of the Russian Academy of Sciences
2019
Pirogov Russian National Research Medical University
2016
Russian Academy of Sciences
2015
Lomonosov Moscow State University
2009-2013
The origins of neural systems remain unresolved. In contrast to other basal metazoans, ctenophores (comb jellies) have both complex nervous and mesoderm-derived muscular systems. These holoplanktonic predators also sophisticated ciliated locomotion, behaviour distinct development. Here we present the draft genome Pleurobrachia bachei, Pacific sea gooseberry, together with ten ctenophore transcriptomes, show that they are remarkably from animal genomes in their content neurogenic, immune...
Cognitive abilities and disorders unique to humans are thought result from adaptively driven changes in brain transcriptomes, but little is known about the role of cis-regulatory affecting transcription start sites (TSS). Here, we mapped human, chimpanzee, macaque prefrontal cortex genome-wide distribution histone H3 trimethylated at lysine 4 (H3K4me3), an epigenetic mark sharply regulated TSS, identified 471 sequences with human-specific enrichment or depletion. Among these were 33 loci...
ABSTRACT Exon skipping is a promising strategy for Duchenne muscular dystrophy (DMD) disease-modifying therapy. To make this approach safe, ensuring that excluding one or more exons will restore the reading frame and resulting protein retain critical functions of full-length dystrophin necessary. However, in vivo testing consequences encode N-terminal actin-binding domain (ABD) has been confounded by absence relevant animal model. We created mouse model disease recapitulating novel human...
High expectations have been set on gene therapy with an AAV-delivered shortened version of dystrophin (µDys) for Duchenne muscular dystrophy (DMD), several drug candidates currently undergoing clinical trials. Safety concerns this therapeutic approach include the immune response to introduced antigens observed in some DMD patients. Recent reports highlighted microutrophin (µUtrn) as a less immunogenic functional substitute therapy. In current study, we created human codon-optimized µUtrn...
Abstract Tumors of the jaws may represent different human disorders and frequently associate with pathologic bone fractures. In this report, we analyzed two affected siblings from a family Russian origin, history dental tumors jaws, in correspondence to original clinical diagnosis cementoma consistent gigantiform (GC, OMIM: 137575). Whole exome sequencing revealed heterozygous missense mutation c.1067G > A (p.Cys356Tyr) ANO5 gene these patients. To date, autosomal-dominant mutations have...
Abstract Both heritability and environment contribute to risk for schizophrenia. However, the molecular mechanisms of interactions between genetic non-genetic factors remain unclear. Epigenetic regulation neuronal genome may be a presumable mechanism in pathogenesis Here, we performed analysis open chromatin landscape gene promoters prefrontal cortical (PFC) neurons from schizophrenic patients. We cataloged cell-type-based epigenetic signals transcriptional start sites (TSS) marked by...
RNA interference (RNAi)-based therapeutics hold the potential for dominant genetic disorders, enabling sequence-specific inhibition of pathogenic gene products. We aimed to direct RNAi selective suppression heterozygous
Bipedalism, speech, and intellect are the most prominent traits that emerged in evolution of Homo sapiens. Here, we describe a novel genetic cause an "involution" phenotype four patients, who characterized by quadrupedal locomotion, intellectual impairment, absence small stature, hirsutism, observed consanguineous Brazilian family. Using whole-genome sequencing analysis homozygous mapping, identified genes bearing variants found 36.2 kb deletion gene glutamate receptor delta 2 (GRID2)...
Human prefrontal cortex (PFC) is associated with broad individual variabilities in functions linked to personality, social behaviors, and cognitive functions. The phenotype brain can be caused by genetic or epigenetic factors. interactions between these factors human subjects is, as of yet, poorly understood. heterogeneity cerebral tissue, consisting neuronal nonneuronal cells, complicates the comparative analysis gene activities specimens. To approach underlying neurogenomic determinants,...
Sanger sequencing is a common method of reading DNA sequences. It less expensive than high-throughput methods, and it appropriate for numerous applications including molecular diagnostics. However, mixtures similar pathogens with this challenging. This important because most clinical samples contain such mixtures, rather pure single strains. The traditional solution to sequence selected clones PCR products, complicated, time-consuming, procedure. Here, we propose the base-calling vocabulary...
Abstract Background A growing diversity of biological data is tagged with unique identifiers (UIDs) associated polynucleotides and proteins to ensure efficient computer-mediated storage, maintenance, processing. These identifiers, which are not informative for most people, often substituted by biologically meaningful names in various presentations facilitate utilization dissemination sequence-based knowledge. This substitution commonly done manually that may be a tedious exercise prone...
Влодавец 3 , Т. В. Димитриева 1 А. Дейкин 1,2 Анализ фенотипических проявлений делеций в гене дистрофина контексте эффективности пропуска экзонов как метода терапии наследственных дистрофинопатий Analysis of phenotype expressions deletions in the dystrophin gene terms efficiency exon skipping as a method for treatment hereditary dystrophinopathies Duchenne muscular dystrophy (DMD) is common genetic disease caused by mutation gene.It leads to death childhood.At time writing this paper,...
Alzheimer's disease (AD) is a common heritable neurodegenerative disorder. However, aside from ApoEe4, the genetic factors contributing to late-onset AD remain be elucidated. In addition known single risk factor (ApoEe4 allele) and highly penetrant missense-mutations in APP PSEN1/PSEN2 genes, many other variations with incomplete penetrance may potentially for AD. The role of such rare would difficult or impossible identify by GWAS using standard population case-control design. Thus, we...
1. Solodkov, A.S., Talibov, A.H. (2007), “Morphological and functional features of cardiac remodeling in athletes”, Uchenye zapiski universiteta imeni P.F. Lesgafta, Vol. 32, No. 10, pp. 80-86/ 2. (2011), “Some physiological indicators intracardial haemodynamics sports veterans according to the echocardiography depending on motor activity’, 80, 178-181. 3. (2012), “Features echocardiographic athletes` qualification”, 88, 6, 119-132 Контактная информация: t.abset@yandex.ru