Publications by authors named "Dmitrii Polev"

The orthopedia homeobox (OTP) gene encodes a homeodomain-containing transcription factor involved in brain development. OTP is mapped to human chromosome 5q14.1.

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  • Population allele frequency is essential for understanding genetic variants in medicine, and large databases like gnomAD serve as references.
  • Variances in rare allele frequencies between populations suggest that local data can be more informative than global averages; many regions, including Russia, lack comprehensive genetic studies.
  • The RUSeq project created a large genetic variant reference set from 7,452 exome samples in Moscow and St. Petersburg, revealing significant genetic diversity and identifying notable pathogenic variants specific to Russia.
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The temperature-sensitive mutant exhibits the restoration of learning defects both after heat shock (HS) and under hypomagnetic conditions (HMC). Previously, was shown to have an increased level of LIM kinase 1 (LIMK1). However, its sequence did not significantly differ from that of the wild-type strain ().

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  • Clarithromycin (CLR) is a crucial antibiotic for treating Helicobacter pylori infections, but there is a lack of data on resistance patterns in Russia.
  • Researchers used whole genome sequencing (WGS) to analyze 44 clinical H. pylori isolates from 2014-2022, finding that 23 were CLR-resistant while 21 were susceptible.
  • The study identified specific genetic mutations in the 23S rRNA gene that reliably predict resistance, and it also compared mutations in virulence-related genes between resistant and susceptible strains, highlighting a significant deletion in the HP0820 gene as a key area for future research.
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  • Dose-intensive therapies during allogeneic hematopoietic stem cell transplantation (allo-HSCT) significantly disrupt gut microbiota and promote antibiotic resistance, with recovery patterns poorly understood.
  • In a study of 12 adult patients, stool samples revealed a marked decline in microbial diversity starting from day 0, persisting for up to a year, with specific bacterial genera showing slower recovery.
  • A rise in antibiotic-resistant bacteria was observed around day 30 post-transplant, with resistance to major antibiotic classes, but a gradual decrease in resistance levels was noted over the following year.
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The intricate relationships between parasites and hosts encompass a wide range of levels, from molecular interactions to population dynamics. Parasites influence not only the physiological processes in the host organism, but also the entire ecosystem, affecting mortality of individuals, the number of offspring through parasitic castration, and matter and energy cycles. Understanding the molecular mechanisms that govern host-parasite relationships and their impact on host physiology and environment remains challenging.

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Symbiotic microorganisms may provide their hosts with abilities critical to their occupation of microhabitats. Gut (intestinal) bacterial communities aid animals to digest substrates that are either innutritious or toxic, as well as support their development and physiology. The role of microbial communities associated with sibling species in the hosts' adaptation remains largely unexplored.

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-mediated transformation leads to the formation of crown galls or hairy roots on infected plants. These effects develop due to the activity of T-DNA genes, gathered on a big plasmid, acquired from agrobacteria during horizontal gene transfer. However, a lot of plant species are known to contain such sequences, called cellular T-DNAs (cT-DNAs), and maintain normal phenotypes.

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The aim of this study is to describe the phenotypic and genetic properties of oxacillin-susceptible methicillin-resistant Staphylococcus aureus (OS-MRSA) isolates and their beta-lactam resistant derivatives obtained after selection with oxacillin. A collection of hospital- (HA-) and community-acquired (CA-) MRSA was screened for oxacillin susceptibility. Antibiotic susceptibility testing, population analysis profile (PAP), mecA expression analysis, and whole genome sequencing (WGS) were performed for 60 mecA-positive OS-MRSA isolates.

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  • Floating Harbor syndrome (FHS) is a very rare genetic disorder affecting over 100 people globally, caused by mutations in a specific gene, with limited knowledge on its pathogenesis and treatment effectiveness.
  • A case study in Russia presented a male with typical symptoms of FHS, such as short stature and intellectual impairment, and demonstrated that growth hormone (GH) therapy led to modest growth improvements before puberty.
  • Whole-exome sequencing identified a specific pathogenic mutation linked to FHS and suggested a new model explaining the nature of these mutations, as well as the observed inefficacy of GH treatment in patients with this syndrome.
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Although high altitude training has been increasingly popular among endurance athletes, the molecular and cellular bases of this adaptation remain poorly understood. We aimed to define the underlying physiological changes and screen for potential biomarkers of adaptation using transcriptional profiling of whole blood. Seven elite female speed skaters were profiled on the 18th day of high-altitude adaptation.

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  • The study investigates the genetic factors influencing COVID-19 severity using a cohort of 840 patients from Russia, aiming to address challenges of cohort size and genome coverage in previous research.
  • While no significant gene or pathway-level associations were found, the researchers identified eleven candidate loci linked to various quantitative traits in COVID-19 patients.
  • Notably, a risk score derived from certain genetic variants was able to predict hospitalization severity and outcomes, showcasing the potential of using quantitative traits for identifying genetic risk factors in COVID-19 research.
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Current eukaryotic replication models postulate that leading and lagging DNA strands are replicated predominantly by dedicated DNA polymerases. The catalytic subunit of the leading strand DNA polymerase ε, Pol2, consists of two halves made of two different ancestral B-family DNA polymerases. Counterintuitively, the catalytically active N-terminal half is dispensable, while the inactive C-terminal part is required for viability.

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Thousands of yeast genomes have been sequenced with both traditional and long-read technologies, and multiple observations about modes of genome evolution for both wild and laboratory strains have been drawn from these sequences. In our study, we applied Oxford Nanopore and Illumina technologies to assemble complete genomes of two widely used members of a distinct laboratory yeast lineage, the Peterhof Genetic Collection (PGC), and investigate the structural features of these genomes including transposable element content, copy number alterations, and structural rearrangements. We identified numerous notable structural differences between genomes of PGC strains and the reference S288C strain.

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  • The study focuses on a pathogen, particularly tuberculosis (TB), which poses significant public health challenges due to issues like drug resistance and difficulties with diagnostics and treatment predictions.
  • Researchers analyzed 145 clinical strains (72 pulmonary TB and 73 extra-pulmonary TB) from Russia between 2007 and 2014 using whole-genome sequencing to identify mutations linked to drug resistance.
  • The findings reveal distinct genetic substrains related to the different TB localizations, with extra-pulmonary TB strains showing higher drug resistance, particularly associated with Beijing lineage while HIV was linked to increased occurrences of extra-pulmonary TB.
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Laminopathies are a family of monogenic multi-system diseases resulting from mutations in the gene which include a wide range of neuromuscular disorders. Although lamins are expressed in most types of differentiated cells, LMNA mutations selectively affect only specific tissues by mechanisms that remain largely unknown. We have employed the combination of functional in vitro experiments and transcriptome analysis in order to determine how two LMNA mutations associated with different phenotypes affect skeletal muscle development and metabolism.

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Advantages and diagnostic effectiveness of the two most widely used resequencing approaches, whole exome (WES) and whole genome (WGS) sequencing, are often debated. WES dominated large-scale resequencing projects because of lower cost and easier data storage and processing. Rapid development of 3 generation sequencing methods and novel exome sequencing kits predicate the need for a robust statistical framework allowing informative and easy performance comparison of the emerging methods.

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  • - The study investigated genetic variants responsible for monogenic diabetes in 60 Russian children diagnosed with non-type 1 diabetes before age 18, utilizing whole-exome sequencing across 35 genes associated with MODY and neonatal diabetes.
  • - Researchers identified 38 genetic variants in 55% of patients, with a significant majority linked to MODY-related genes, particularly GCK, while a smaller group had variants in MODY-unrelated genes.
  • - The findings suggest a high occurrence of various genetic variants, emphasizing the importance of starting monogenic diabetes diagnostics in Russian children with GCK testing, while also highlighting the effectiveness of whole-exome sequencing for identifying rare variants.
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  • Allele frequency data from large projects like gnomAD are crucial for understanding genetic variations in different populations, but they often overlook underrepresented groups, like the Russian population.
  • Researchers analyzed a dataset of 694 exome samples from Northwest Russia to compare genetic variants and estimate the prevalence of autosomal recessive disease alleles.
  • Findings revealed that many variants were unique to this population, with notable overrepresentation of pathogenic variants linked to Mendelian disorders, highlighting the importance of localized allele frequency data for diagnosing genetic diseases.
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The Russian Federation is the largest and one of the most ethnically diverse countries in the world, however no centralized reference database of genetic variation exists to date. Such data are crucial for medical genetics and essential for studying population history. The Genome Russia Project aims at filling this gap by performing whole genome sequencing and analysis of peoples of the Russian Federation.

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  • - The study investigated the genetic basis of Type 2 diabetes (T2D) and obesity in 110 Russian patients using exome sequencing to identify new and known genetic markers related to these diseases.
  • - Several significant single nucleotide polymorphisms (SNPs) were linked to obesity, T2D, and body mass index (BMI), demonstrating potential genetic risk factors in the examined population.
  • - The findings highlight the effectiveness of whole exome sequencing (WES) in identifying relevant genetic variants for complex diseases like T2D and obesity, even in smaller, under-studied ethnic groups.
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In the 1970s, the strain Geotrichum candidum Link 3C was isolated from rotting rope and since then has been extensively studied as a source of cellulose and xylan-degrading enzymes. The original identification of the strain was based only on morphological characters of the fungal mycelium in culture. Recent comparison of the internal transcribed spacer (ITS) fragments derived from the draft genome published in 2015 did not show its similarity to G.

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The Baltic clam Limecola balthica L. (Tellinidae) is broadly used in ecophysiological, toxicological, evolutionary and environmental monitoring studies. However, it is poorly studied in respect of genome and gene functions.

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Mitochondrial genome sequence of Vannella croatica (Amoebozoa, Discosea, Vannellida) was obtained using pulse-field gel electrophoretic isolation of the circular mitochondrial DNA, followed by the next-generation sequencing. The mitochondrial DNA of this species has the length of 28,933 bp and contains 12 protein-coding genes, two ribosomal RNAs, and 16 transfer RNAs. Vannella croatica mitochondrial genome is relatively short compared to other known amoebozoan mitochondrial genomes but is rather gene-rich and contains significant number of open reading frames.

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