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Article: [Abnormal mTOR Signaling Pathway Activity in Autism Spectrum Disorders: Prospects of Mechanism-Based Therapy].

Trifonova, E A / Kotliarova, A A / Kochetov, A V

2023 Volume 57, Issue 2, Page(s) 243–253

Abstract: Autism spectrum disorder (ASD) is a developmental disorder characterized by the early onset of problems with communication, learning, and behavior. The syndromic form of ASD is caused by monogenic mutations. When it is not possible to find genetic or ... ...

Abstract	Autism spectrum disorder (ASD) is a developmental disorder characterized by the early onset of problems with communication, learning, and behavior. The syndromic form of ASD is caused by monogenic mutations. When it is not possible to find genetic or other known mechanisms, the term "idiopathic autism" is used. A significant part of both syndromic and idiopathic autism is associated with translational deregulation dependent on the mechanistic target of rapamycin (mTOR). In this review, we present both bioinformatic and experimental data that link the mTOR signaling pathway to maternal autoantibody related autism and childhood autoimmune neuropsychiatric disorders such as Sydenham's chorea and pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS). The need for ASD subtyping and the prospects of mechanism-based therapy with inhibitors of the mTOR signaling pathway are also discussed.
MeSH term(s)	Humans ; Child ; Autism Spectrum Disorder/drug therapy ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/complications ; Streptococcal Infections/complications ; Streptococcal Infections/therapy ; Signal Transduction ; Autoimmune Diseases ; TOR Serine-Threonine Kinases/genetics
Chemical Substances	TOR Serine-Threonine Kinases (EC 2.7.11.1) ; MTOR protein, human (EC 2.7.1.1)
Language	Russian
Publishing date	2023-03-30
Publishing country	Russia (Federation)
Document type	Review ; English Abstract ; Journal Article
ZDB-ID	213542-5
ISSN	0026-8984
ISSN	0026-8984
DOI	10.31857/S0026898423020222, EDN: EFQXLY
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Article: [Natural Selection as a Driver for the Genetic Component of Preeclampsia].

Serebrova, V N / Trifonova, E A / Stepanov, V A

Molekuliarnaia biologiia

2021 Volume 55, Issue 3, Page(s) 441–459

Abstract: Preeclampsia (PE) is a severe hypertensive pathology and affects 2-8% of pregnancies worldwide. Its etiopathogenesis is poorly understood, and prognostic biomarkers and effective treatments are unavailable for this pregnancy complication, determining the ...

Abstract	Preeclampsia (PE) is a severe hypertensive pathology and affects 2-8% of pregnancies worldwide. Its etiopathogenesis is poorly understood, and prognostic biomarkers and effective treatments are unavailable for this pregnancy complication, determining the high rates of maternal and perinatal morbidity and mortality. Racial and ethnic differences in PE incidence are of interest to study in terms of evolutionary medicine because such variability can be considered as a side effect of adaptive changes that have occurred in the genetic structure of modern populations since the dispersal of Homo sapiens from Africa. Genetic diversity at 10 regulatory single nucleotide polymorphisms (rSNPs) associated with PE was studied in North Eurasian populations and world populations of the 1000 Genomes Project. The role of natural selection in the formation of this genetic diversity was assessed at the microevolutionary level. High interpopulation diversity was observed with the greatest contribution being made by allele frequencies of NDRG1 rs3802252 (FST = 0.157). Signatures of natural selection were detected for rs10423795 of LHB, rs2167270 of LEP, rs2227262 and rs3802252 of NDRG1, rs56153523 and rs8109071 of SYDE1, and rs72959687 of INHA. The results are consistent with two evolutionary hypotheses of PE, namely, those of ancestral susceptibility and genetic conflicts.
MeSH term(s)	Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Polymorphism, Single Nucleotide ; Pre-Eclampsia/genetics ; Pregnancy ; Selection, Genetic
Language	Russian
Publishing date	2021-06-07
Publishing country	Russia (Federation)
Document type	Journal Article
ZDB-ID	213542-5
ISSN	0026-8984
ISSN	0026-8984
DOI	10.31857/S0026898421030162
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Article ; Online: Composition of the cash flows of leasing companies

Trifonova E.M.

Sovremennaâ Ekonomika : Problemy, Tendencii, Perspektivy , Iss

2011 Volume 4

Abstract: The article clarifies the structure of the current, investment and financial activity for leasing companies. The articles of cash flows are disclosed in view of the peculiarities of leasing activity. With a view to further analyzing of leasing companies ... ...

Abstract	The article clarifies the structure of the current, investment and financial activity for leasing companies. The articles of cash flows are disclosed in view of the peculiarities of leasing activity. With a view to further analyzing of leasing companies the grouping of positive and negative cash flows are given.
Keywords	leasing company ; current activity ; investment activity ; financial activity ; cash flows. ; Economic theory. Demography ; HB1-3840 ; Social Sciences ; H ; DOAJ:Economics ; DOAJ:Business and Economics
Language	Russian
Publishing date	2011-06-01T00:00:00Z
Publisher	Vladimir State University
Document type	Article ; Online
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Article ; Online: Role of actin-binding proteins in the regulation of cellular mechanics.

Vakhrusheva, A V / Murashko, A V / Trifonova, E S / Efremov, Yu M / Timashev, P S / Sokolova, O S

European journal of cell biology

2022 Volume 101, Issue 3, Page(s) 151241

Abstract: The viscoelastic parameters of the cell can report on the cell state, cellular processes and diseases. Cell mechanics strongly rely on the properties of the cytoskeleton, an important system of subcellular filaments, especially on the high-level ... ...

Abstract	The viscoelastic parameters of the cell can report on the cell state, cellular processes and diseases. Cell mechanics strongly rely on the properties of the cytoskeleton, an important system of subcellular filaments, especially on the high-level structures that actin forms together with actin-binding proteins (ABPs). In normal cells, components of the cytoskeleton are highly integrated, and their functions are well orchestrated. In contrast, impaired expression and functioning of ABPs lead to the increasing ability of cancer cells to resist chemotherapy and metastasize. ABP-mediated changes in the cytoskeleton architecture can lead to changes in the mechanical properties of the actin network, both locally and at the level of the whole cell. Until now, in cancer-related studies, mechanical data have been used less frequently, compared to biochemical tests or cell migration assays. Here, we will review current methods for analyzing the mechanical properties of cells and provide the available data on the contribution of ABPs in determining cell mechanical properties important for the investigation of cellular functions, particularly in cancers.
MeSH term(s)	Actin Cytoskeleton/metabolism ; Actins/metabolism ; Cytoskeleton/metabolism ; Microfilament Proteins/metabolism ; Microtubules/metabolism
Chemical Substances	Actins ; Microfilament Proteins
Language	English
Publishing date	2022-05-23
Publishing country	Germany
Document type	Journal Article
ZDB-ID	391967-5
ISSN	1618-1298 ; 0070-2463 ; 0171-9335
ISSN (online)	1618-1298
ISSN	0070-2463 ; 0171-9335
DOI	10.1016/j.ejcb.2022.151241
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Article ; Online: Maternal Age at Menarche Genes Determines Fetal Growth Restriction Risk.

Reshetnikov, Evgeny / Churnosova, Maria / Reshetnikova, Yuliya / Stepanov, Vadim / Bocharova, Anna / Serebrova, Victoria / Trifonova, Ekaterina / Ponomarenko, Irina / Sorokina, Inna / Efremova, Olga / Orlova, Valentina / Batlutskaya, Irina / Ponomarenko, Marina / Churnosov, Vladimir / Aristova, Inna / Polonikov, Alexey / Churnosov, Mikhail

International journal of molecular sciences

2024 Volume 25, Issue 5

Abstract: We aimed to explore the potential link of maternal age at menarche (mAAM) gene polymorphisms with risk of the fetal growth restriction (FGR). This case (FGR)-control (FGR free) study included 904 women (273 FGR and 631 control) in the third trimester of ... ...

Abstract	We aimed to explore the potential link of maternal age at menarche (mAAM) gene polymorphisms with risk of the fetal growth restriction (FGR). This case (FGR)-control (FGR free) study included 904 women (273 FGR and 631 control) in the third trimester of gestation examined/treated in the Departments of Obstetrics. For single nucleotide polymorphism (SNP) multiplex genotyping, 50 candidate loci of mAAM were chosen. The relationship of mAAM SNPs and FGR was appreciated by regression procedures (logistic/model-based multifactor dimensionality reduction [MB-MDR]) with subsequent in silico assessment of the assumed functionality pithy of FGR-related loci. Three mAAM-appertain loci were FGR-linked to genes such as
MeSH term(s)	Pregnancy ; Female ; Humans ; Male ; Maternal Age ; Fetal Growth Retardation/genetics ; Menarche/genetics ; Reproduction ; Polymorphism, Single Nucleotide ; Receptors, G-Protein-Coupled/genetics
Chemical Substances	GPRC5B protein, human ; Receptors, G-Protein-Coupled
Language	English
Publishing date	2024-02-24
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms25052647
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Article: Investigation of the Effect of a Single-Stranded Break on the Mechanical Parameters of DNA by Molecular Dynamics Method

Volokh, O. I / Armeev, G. A / Trifonova, E. S / Sokolova, O. S

Moscow University biological sciences bulletin. 2020 July, v. 75, no. 3

2020

Abstract: Early detection and repair of damaged DNA is important for cell functioning and survival. The recently proposed mechanism of intranucleosomal loop formation suggests the relaxation of DNA supercoiling accumulated during transcription through damaged ... ...

Abstract	Early detection and repair of damaged DNA is important for cell functioning and survival. The recently proposed mechanism of intranucleosomal loop formation suggests the relaxation of DNA supercoiling accumulated during transcription through damaged chromatin. The degree of DNA relaxation is affected by the mechanical properties and structure of the double helix. In this work, the consequences from the introduction of a single-stranded break on the mechanical properties of a DNA fragment are studied using molecular dynamics. It is concluded that the introduction of a single-stranded break leads to decreased stiffness and higher elasticity of the damaged DNA molecule as compared to the intact one. This, in turn, may lead to relief in the supercoiling of the defective DNA and to the enzyme arrest.
Keywords	DNA ; DNA fragmentation ; chromatin ; enzymes ; molecular dynamics
Language	English
Dates of publication	2020-07
Size	p. 136-141.
Publishing place	Pleiades Publishing
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	2325902-4
ISSN	1934-791X ; 0096-3925
ISSN (online)	1934-791X
ISSN	0096-3925
DOI	10.3103/S0096392520030098
Database	NAL-Catalogue (AGRICOLA)

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Article: [The Role of Natural Selection in the Formation of the Genetic Structure of Populations by SNP Markers in Association with Body Mass Index and Obesity].

Trifonova, E A / Popovich, A A / Bocharova, A V / Vagaitseva, K V / Stepanov, V A

Molekuliarnaia biologiia

2020 Volume 54, Issue 3, Page(s) 398–411

Abstract: Obesity is one of the major challenges in modern society. More than a third of the world's population suffers froms overweight. This phenotype affects the quality of life and is associated with cardiovascular diseases, diabetes, cancer and reproductive ... ...

Abstract	Obesity is one of the major challenges in modern society. More than a third of the world's population suffers froms overweight. This phenotype affects the quality of life and is associated with cardiovascular diseases, diabetes, cancer and reproductive disorders. The population variability of allele frequencies of 26 single nucleotide polymorphisms, in association with obesity and body mass index, according to data from genome-wide association studies (GWASs) is discussed in this study. Genetic variability was analyzed in populations of Northern Eurasia and populations from the human genome diversity project (HGDP). The population samples are characterized by high genetic diversity that correlates with climatic and geographical parameters. The results of the test for searching for natural selection signals revealed a selection effect for rs1167827 of the HIP1 gene, rs7138803 and rs7164727 located in the intergenic region, rs7141420 of the NRXN3 gene, rs7498665 of the SH2B1 gene, and rs7903146 of the TCF7L2 gene.
MeSH term(s)	Adaptor Proteins, Signal Transducing/genetics ; Asia ; Body Mass Index ; DNA-Binding Proteins/genetics ; Europe ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Nerve Tissue Proteins/genetics ; Obesity/genetics ; Polymorphism, Single Nucleotide ; Selection, Genetic ; Transcription Factor 7-Like 2 Protein/genetics
Chemical Substances	Adaptor Proteins, Signal Transducing ; DNA-Binding Proteins ; HIP1 protein, human ; Nerve Tissue Proteins ; SH2B1 protein, human ; TCF7L2 protein, human ; Transcription Factor 7-Like 2 Protein ; neurexin IIIalpha
Language	Russian
Publishing date	2020-06-22
Publishing country	Russia (Federation)
Document type	Journal Article
ZDB-ID	213542-5
ISSN	0026-8984
ISSN	0026-8984
DOI	10.31857/S0026898420030179
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Article: Psikhicheskie rasstroistva, assotsiirovannye s ostroi fazoi techeniya COVID-19: klinika, podkhody k terapii.

Samushiya, M A / Chorbinskaya, S A / Kolpakov, E A / Shmyrev, V I / Kryzhanovskiy, S M / Baranovskaya, O P / Trifonova, E V / Devyatkin, A V / Kydryavtseva, N A / Maeva, V O / Schepkina, E V

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

2023 Volume 123, Issue 4. Vyp. 2, Page(s) 52–59

Abstract: Background: The purpose is to study the structure of clinical manifestations of mental disorders in the acute period of COVID-19 among patients, who were hospitalized with a new coronavirus infection and their relations with the severity of the immune ... ...

Title translation	Mental disorders associated with acute COVID-19: clinical picture, therapy approaches.
Abstract	Background: The purpose is to study the structure of clinical manifestations of mental disorders in the acute period of COVID-19 among patients, who were hospitalized with a new coronavirus infection and their relations with the severity of the immune response, to assess the efficacy and safety profile of the spectrum of used psychopharmacotherapy. Material and methods: A study was conducted of patients, hospitalized to the department of infectious diseases and repurposed for COVID-19 clinical departments with a diagnosis of COVID-19 (compliance with the criteria for ICD-10: U07.1) from September 2020 to March 2021. Study design: single center opened retrospective cohort study. The main group is consisted of 72 patients, average age - 71 [56.0; 81.0] years, the part of women - 64.0%. The control group ( Results: In the following range of mental disorders were identified: a depressive episode (ICD-10 F32) by 31 patients, by 22 - a disorder of adaptive reactions (ICD-10 F43.2), by 5 - delirium not caused by alcohol or other psychoactive substances (ICD-10 F05), by 14 - mild cognitive impairment caused by damage and disfunction of the brain or somatic diseases (ICD-10 F06.7). In comparison with the control group, these patients showed a statistically significant ( Conclusion: The results of the study confirm the heterogeneity of the structure of mental disorders in the acute form of coronavirus infection, revealing the relations between the clinical picture and laboratory parameters of the immune response to systemic inflammation. Recommendations are given for the choice of psychopharmacotherapy, in conformity with the peculiarities of pharmacokinetics and interaction with somatotropic therapy.
MeSH term(s)	Humans ; Female ; Aged ; Middle Aged ; COVID-19/complications ; Retrospective Studies ; Mental Disorders ; Antipsychotic Agents ; Inflammation
Chemical Substances	Antipsychotic Agents
Language	Russian
Publishing date	2023-05-04
Publishing country	Russia (Federation)
Document type	English Abstract ; Journal Article
ZDB-ID	1201462-x
ISSN	2309-4729 ; 1997-7298 ; 0044-4588
ISSN (online)	2309-4729
ISSN	1997-7298 ; 0044-4588
DOI	10.17116/jnevro202312304252
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Article: Alternanthera mosaic potexvirus

Donchenko, Ekaterina / Trifonova, Ekaterina / Nikitin, Nikolai / Atabekov, Joseph / Karpova, Olga

Advances in virology

2018 Volume 2018, Page(s) 1973705

Abstract: Alternanthera mosaic ... ...

Abstract	Alternanthera mosaic virus
Language	English
Publishing date	2018-06-19
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2625776-2
ISSN	1687-8647 ; 1687-8639
ISSN (online)	1687-8647
ISSN	1687-8639
DOI	10.1155/2018/1973705
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Article: [Multiplex genotyping of single nucleotide polymorphisms by MALDI-TOF mass-spectrometry: ferequencies of 56 SNP in immune response genes in human populations].

Stepanov, V A / Trifonova, E A

Molekuliarnaia biologiia

2013 Volume 47, Issue 6, Page(s) 976–986

Abstract: Single nucleotide polymorphism (SNP) are the most common type of genetic polymorphisms. Despite the progress in sequencing and postgenomic technologies, point genotyping of SNPs remains the most demanded approach in human and medical genetics. In this ... ...

Abstract	Single nucleotide polymorphism (SNP) are the most common type of genetic polymorphisms. Despite the progress in sequencing and postgenomic technologies, point genotyping of SNPs remains the most demanded approach in human and medical genetics. In this paper, the experience in the application of multiple SNP genotyping using MALDI-TOF mass-spectrometry for the analysis of genetic diversity of immune response genes in human populations has been described. It is demonstrated that MALDI-TOF mass-spectrometry is rapid, accurate and efficient method for medium-scale SNP genotyping. In four populations (Russian, Komi, Khant, and Buryat) the similar spectrum of allelic frequencies for 56 SNPs in 41 genes implicated in the regulation of immune response was found. Populations under study have the similar level of genetic diversity and are clustered according their geographic location. Economic effectiveness of MALDI-TOF mass-spectrometry in comparison with a real time PCR technology is estimated.
MeSH term(s)	Ethnic Groups ; Genes, MHC Class II ; Genetic Variation ; Genetics, Population ; Genotype ; Genotyping Techniques/methods ; Humans ; Mass Spectrometry/methods ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide/genetics ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization/methods
Language	Russian
Publishing date	2013-11
Publishing country	Russia (Federation)
Document type	English Abstract ; Journal Article
ZDB-ID	213542-5
ISSN	0026-8984
ISSN	0026-8984
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