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1. Deletions in AZFc Region of Y Chromosome in Russian Fertile Men

Author:
A. V. Polyakov,   et al.   ; V. B. Chernykh; O. P. Ryzhkova; I. A. Kuznetsova; M. S. Kazaryan; T. M. Sorokina; L. F. Kurilo; O. A. Schagina;     Show all 8 Authors
Source:
Russian journal of genetics 2022 v.58 no.7 pp. 850-856
ISSN:
1022-7954
Subject:
Y chromosome; loci; males
Abstract:
... The Y chromosome microdeletions are one of the common copy number variations (CNVs) associated with male (sub)infertility. The frequency and spectrum of AZFc region (locus Yq11.223) deletions in Russian fertile men (n = 436) were studied. Complete AZFc (b2/b4) deletions were not detected in the studied sample; partial AZFс deletions were found in 77 (17.7%) individuals. The most frequent types of ...
DOI:
10.1134/S1022795422070043

2. Hemophilia B Leyden: Literature and Our Data

Author:
A. V. Polyakov,   et al.   ; T. S. Beskorovainaya; V. V. Zabnenkova; R. A. Zinchenko; O. A. Shchagina;     Show all 5 Authors
Source:
Russian journal of genetics 2021 v.57 no.10 pp. 1131-1139
ISSN:
1022-7954
Subject:
gene expression; genes; hemophilia; ontogeny; patients; promoter regions; puberty; transcription factors
Abstract:
... Hemophilia B is a monogenic X-linked recessive disorder associated with blood clotting reduction caused by mutations in the clotting factor IX gene (F9). An unusual form of this disorder, hemophilia B Leyden, caused by mutations in the promoter region of the F9 gene, is described. This form of hemophilia B is characterized by a significant, within norm, increase in factor IX in the patient’s plasm ...
DOI:
10.1134/S1022795421100033

3. Accumulation of Trace Elements in the Marsh Frog Pelophylax ridibundus in Cooling Ponds of the Middle Urals

Author:
E. V. Polyakov,   et al.   ; M. Ya. Chebotina; V. P. Guseva; D. L. Berzin; I. V. Volkov;     Show all 5 Authors
Source:
Inland water biology 2022 v.15 no.2 pp. 189-194
ISSN:
1995-0829
Subject:
Pelophylax; adults; electric power; frogs; nuclear power; plankton; power plants
Abstract:
... A study of the accumulation of trace elements in the marsh frog Pelophylax ridibundus Pall., 1771 in the heating zones of the cooling ponds of the Beloyarsk nuclear power plant and Reftinsk heating electric power plant has been carried out. For the entire set of data on the concentrations of elements in frogs, no statistically significant differences are found between the studied water bodies. Usi ...
DOI:
10.1134/S1995082922020043

4. Interplay between Locally Excited and Charge Transfer States Governs the Photoswitching Mechanism in the Fluorescent Protein Dreiklang

Author:
Igor V. Polyakov,   et al.   ; Tirthendu Sen; Yingying Ma; Bella L. Grigorenko; Alexander V. Nemukhin; Anna I. Krylov;     Show all 6 Authors
Source:
Journal of physical chemistry 2021 v.125 no.3 pp. 757-770
ISSN:
1520-5207
Subject:
fluorescent proteins; journals; objectives; physical chemistry; refining
Abstract:
... We present the results of high-level electronic structure and dynamics simulations of the photoactive protein Dreiklang. With the goal of understanding the details of the Dreiklang photocycle, we carefully characterize the excited states of the ON- and OFF-forms of Dreiklang. The key finding of our study is the existence of a low-lying excited state of a charge-transfer character in the neutral ON ...
DOI:
10.1021/acs.jpcb.0c09221

5. Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia

Author:
A. V. Polyakov,   et al.   ; I. M. Khidiyatova; E. V. Saifullina; A. S. Karunas; A. F. Akhmetgaleyeva; R. F. Kutlubaeva; L. A. Smakova; S. L. Lobov; O. A. Shchagina; V. A. Kadnikova; O. P. Ryzhkova; R. V. Magzhanov; E. K. Khusnutdinova;     Show all 13 Authors
Source:
Russian journal of genetics 2022 v.58 no.9 pp. 1145-1153
ISSN:
1022-7954
Subject:
disease course; exons; missense mutation; patients
Abstract:
... Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with a predominant lesion of the pyramidal tract. The autosomal dominant form of SPG3A, associated with mutations in the ATL1 gene, is one of the most common forms of HSP in European populations. Analysis of the ATL1 gene was performed in 63 unrelated families with HSP from the Republic of Bashkortostan. Two pathogenic v ...
DOI:
10.1134/S1022795422090113

6. Clinical and Genetic Characteristics of Noonan Syndrome and Noonan-like Diseases

Author:
A. V. Polyakov,   et al.   ; A. A. Orlova; E. L. Dadali;     Show all 3 Authors
Source:
Russian journal of genetics 2020 v.56 no.5 pp. 540-547
ISSN:
1022-7954
Subject:
genetic disorders; genetics; journals; neonates; signal transduction
Abstract:
... Noonan syndrome (NS) is a group of inherited autosomal dominant diseases characterized by a disturbance of the RAS-MAPK signaling pathway and leading to various clinical manifestations. The prevalence in the world is estimated at 1–2 per 20 000 newborns. The review discusses the molecular genetic causes of the disease, the characteristics of the clinical manifestations of the disease, and the meth ...
DOI:
10.1134/S1022795420050117

7. Molecular Genetic Study of the Causes of Nonsyndromic Sensorineural Hearing Loss in Patients from Georgia

Author:
A. V. Polyakov,   et al.   ; A. A. Stepanova; O. R. Ismagilova; N. M. Galeeva; T. G. Markova; G. A. Tavartkiladze; O. Kvlividze;     Show all 7 Authors
Source:
Russian journal of genetics 2022 v.58 no.5 pp. 585-592
ISSN:
1022-7954
Subject:
deafness; genes; mutation
Abstract:
... Pathogenic variants in the GJB2 gene are the most common reason for nonsyndromic sensorineural hearing loss. In this study, we examined Georgian patients with sensorineural hearing loss. We establish the ratio of GJB2-related deafness among patients with impaired hearing. The mutation spectrum of the GJB2 gene in Georgia is represented by the following pathogenic variants: c.35delG, c.358_360delGA ...
DOI:
10.1134/S1022795422050106

8. The Spectrum and Novel Mutations in RS1 Gene in a Russian Cohort of Patients with X-Linked Retinoschisis

Author:
A. V. Polyakov,   et al.   ; A. A. Stepanova; E. A. Ivanova; V. V. Kadyshev;     Show all 4 Authors
Source:
Russian journal of genetics 2021 v.57 no.7 pp. 847-855
ISSN:
1022-7954
Subject:
genes; juveniles; retinal degeneration
Abstract:
... X-linked juvenile retinoschisis is a hereditary eye disease that belongs to the group of retinal dystrophy. This study presents the results of the search for mutations in the RS1 gene in 48 unrelated men diagnosed with X-linked juvenile retinoschisis. Molecular genetic diagnosis was found in 77% of the probands. Revealed were 27 different pathogenic variants, including eight novel, previously not ...
DOI:
10.1134/S1022795421070139

9. A Simple Automated Laser Profile Meter

Author:
V. Polyakov,   et al.   ; M. Nearing;     Show all 2 Author
Source:
Soil Science Society of America journal 2019 v.83 no.2 pp. 327-331
ISSN:
0361-5995
Subject:
automation; lidar; lighting; portable equipment; roughness; soil
Abstract:
... Core Ideas The proposed laser profile meter is simple yet offers good accuracy and precision. Data obtained by the profile meter compared well with those obtained by lidar. Profile meter provides a practical alternative to more expensive or operationally complex systems. An automated profile meter with vertical precision of ±0.2 mm was built to measure soil surface elevations. It consists of a las ...
Handle:
10113/6471240
DOI:
10.2136/sssaj2018.10.0378

10. Computational Modeling Reveals the Mechanism of Fluorescent State Recovery in the Reversibly Photoswitchable Protein Dreiklang

Author:
Igor V. Polyakov,   et al.   ; Bella L. Grigorenko; Anna I. Krylov; Alexander V. Nemukhin;     Show all 4 Authors
Source:
Journal of physical chemistry 2019 v.123 no.42 pp. 8901-8909
ISSN:
1520-5207
Subject:
chemical reactions; fluorescence; molecular models; physical chemistry; quantum mechanics
Abstract:
... The unique properties of the photoswitchable protein Dreiklang are attributed to a reversible hydration/dehydration reaction at the imidazolinone ring of the chromophore. Recovery of the fluorescent state, which is associated with a chemical reaction of the chromophore’s dehydration, is an important part of the photocycle of this protein. Here we characterize the fluorescent (ON) and nonfluorescen ...
DOI:
10.1021/acs.jpcb.9b06988

11. Sarcoglycanopathies: Clinical, Molecular and Genetic Characteristics, Epidemiology, Diagnostics and Treatment Options

Author:
A. V. Polyakov,   et al.   ; M. V. Bulakh; O. P. Ryzhkova;     Show all 3 Authors
Source:
Russian journal of genetics 2018 v.54 no.2 pp. 129-144
ISSN:
1022-7954
Subject:
diagnostic techniques; epidemiology; etiology; genes; glycoproteins; muscular dystrophy; mutation; pathogenesis; patients
Abstract:
... Sarcoglycanopathies are a group of autosomal recessive limb-girdle muscular dystrophies (LGMD) caused by mutations in sarcoglycan genes: SGCA (LGMD 2D, MIM 600119), SGCB (LGMD 2E, MIM 604286), SGCG (LGMD 2C, MIM 353700), and SGCD (LGMD 2F, MIM 601287). These genes encode four transmembrane sarcoglycan subunits participating in formation of the large sarcolemmal dystrophin- glycoprotein complex. Cl ...
DOI:
10.1134/S1022795418020059

12. Complex Molecular Diagnostics of Hemophilia A in Russian Patients

Author:
A. V. Polyakov,   et al.   ; T. S. Beskorovainaya; T. B. Milovidova; O. A. Schagina; O. P. Ryzhkova;     Show all 5 Authors
Source:
Russian journal of genetics 2019 v.55 no.8 pp. 1015-1024
ISSN:
1022-7954
Subject:
blood; diagnostic techniques; hemophilia; introns; loci; neonates; patients; polymerase chain reaction
Abstract:
... Hemophilia A is a frequent X-linked recessive blood clotting disorder. It is caused by mutations in the F8 gene (locus Xq28) and affects 1 in 5000 newborn boys. The aim of this study was to determine the spectrum of the F8 gene mutations in the Russian patients with hemophilia A. Samples from 117 unrelated families with an incoming diagnosis of hemophilia A were tested by IS-PCR, multiplex PCR, MP ...
DOI:
10.1134/S1022795419080027

13. Testing a theoretical resistance law for overland flow under simulated rainfall with different types of vegetation

Author:
V. Polyakov,   et al.   ; A. Nicosia; C. Di Stefano; V. Pampalone; V. Palmeri; V. Ferro; M.A. Nearing;     Show all 7 Authors
Source:
Catena 2020 v.189 pp. 104482
ISSN:
0341-8162
Subject:
Reynolds number; calibration; data collection; databases; equations; flow resistance; friction; overland flow; rain; rain intensity; rainfall simulation; topographic slope; vegetation types
Abstract:
... In this paper a recently theoretically deduced flow resistance equation, based on a power-velocity profile, was tested using data collected for overland flow under simulated rainfall carried out in plots with vegetation. The available data were obtained exploring a wide range of rainfall intensities (from 60 to 181 mm h⁻¹) and slopes (from 3.6 to 39.6%), and with four different types of vegetation ...
Handle:
10113/6823463
DOI:
10.1016/j.catena.2020.104482

14. Study of male–mediated gene flow across a hybrid zone in the common shrew (Sorex araneus) using Y chromosome

Author:
Andrei V. Polyakov,   et al.   ; Viktor V. Panov;     Show all 2 Author
Source:
Comparative cytogenetics 2017 v.11 no.2 pp. 421-430
ISSN:
1993-078X
Subject:
Sorex araneus; Y chromosome; backcrossing; gene flow; hybrids; males; meiosis; microsatellite repeats; mitochondria; phenotype; shrews
Abstract:
... Despite many studies, the impact of chromosome rearrangements on gene flow between chromosome races of the common shrew (Sorex araneus Linnaeus, 1758) remains unclear. Interracial hybrids form meiotic chromosome complexes that are associated with reduced fertility. Nevertheless comprehensive investigations of autosomal and mitochondrial markers revealed weak or no barrier to gene flow between chro ...
DOI:
10.3897/CompCytogen.v11i2.13494

15. Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson’s Disease

Author:
A. V. Polyakov,   et al.   ; G. M. Bayazutdinova; O. A. Shchagina; A. S. Karunas; N. V. Vyalova; A. A. Sokolov;     Show all 6 Authors
Source:
Russian journal of genetics 2019 v.55 no.12 pp. 1528-1535
ISSN:
1022-7954
Subject:
DNA; Russia; adenosinetriphosphatase; confidence interval; copper; etiology; exons; hepatolenticular degeneration; missense mutation; mutants
Abstract:
... Wilson’s disease (WD) is an autosomal recessive disease caused by an excessive accumulation of copper. The molecular genetic etiology of the disease is due to impairment of the ATP7B gene encoding copper-transporting ATPase. The spectrum and frequencies of mutations in the ATP7B gene are reported in the present study. The analysis was performed via allele-specific ligation for the search for frequ ...
DOI:
10.1134/S1022795419120020

16. CFTR Gene Variants and Genotypes in Russian Patients with CBAVD Syndrome

Author:
A. V. Polyakov,   et al.   ; E. G. Marnat; T. A. Adyan; A. A. Stepanova; T. S. Beskorovainaya; V. B. Chernykh;     Show all 6 Authors
Source:
Russian journal of genetics 2020 v.56 no.4 pp. 496-501
ISSN:
1022-7954
Subject:
alleles; cystic fibrosis; introns; male sterility
Abstract:
... CBAVD syndrome is one of the common genetic causes of male infertility, associated with obstructive azoospermia, commonly resulting from pathogenic CFTR gene variants. We examined 72 Russian infertile men with CBAVD syndrome. Molecular analysis of the CFTR gene was performed to detect 22 common pathogenic variants using AFPL and MLPA. IVS8Tn polymorphism in intron 8 of the CFTR gene was analyzed b ...
DOI:
10.1134/S1022795420040055

17. Molecular-Genetic Study of Phenylketonuria in Patients from Georgia

Author:
A. V. Polyakov,   et al.   ; P. Gundorova; I. A. Kuznetsova; D. Agladze; L. Margvelashvili; E. Kldiashvili; O. Kvlividze; S. I. Kutsev;     Show all 8 Authors
Source:
Russian journal of genetics 2019 v.55 no.8 pp. 1025-1032
ISSN:
1022-7954
Subject:
genes; genotype; mutation; phenylketonuria; prediction; therapeutics; Georgia
Abstract:
... A molecular-genetic study of the full mutation spectrum in phenylketonuria (PKU) in patients from Georgia was conducted for the first time. The frequency of PKU according to neonatal screening over 15 years was 1 : 6111 newborns. One hundred forty probands diagnosed with phenylketonuria were examined. The following methods were used: detection of 25 frequent mutations in the PAH gene, next generat ...
DOI:
10.1134/S1022795419080064

18. Finding the Cause of Hereditary Disease in a Family with Adenomatous Polyposis: Why It Is Important to Accumulate Whole Exome Sequencing Data in the Russian Population

Author:
A. V. Polyakov,   et al.   ; A. S. Tsukanov; A. A. Barinov; V. P. Shubin; A. N. Loginova; T. A. Savelieva; D. Yu. Pikunov; A. M. Kuzminov; V. N. Kashnikov; Yu. A. Shelygin;     Show all 10 Authors
Source:
Russian journal of genetics 2021 v.57 no.6 pp. 734-739
ISSN:
1022-7954
Subject:
DNA; Russia; bioinformatics; blood; copy number variation; databases; exons; genetic disorders; heterozygosity; mutation; patients
Abstract:
... With the aim to find the genetic cause of adenomatous polyposis, DNA samples from six members of the same family (three affected patients, two healthy individuals, and one individual with unknown disease status) were examined via whole exome sequencing and segregation analysis. Previously, no APC/MutYH mutations were found in one patient by Sanger sequencing despite all the symptoms of adenomatous ...
DOI:
10.1134/S1022795421060120

19. HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients

Author:
A. V. Polyakov,   et al.   ; O. A. Shchagina; T. B. Milovidova; A. F. Murtazina; G. E. Rudenskaya; S. S. Nikitin; E. L. Dadali;     Show all 7 Authors
Source:
Molecular biology reports 2020 v.47 no.2 pp. 1331-1337
ISSN:
0301-4851
Subject:
Russia; disease incidence; founder effect; gene frequency; genes; heterozygosity; homozygosity; molecular biology; people; peripheral nervous system diseases
Abstract:
... Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia. However, many studies show that neuromyotonia may remain undiagnosed, while axonopathy is the major clinical finding. The most common cause of neuromyotonia and axonopathy, especially in patients of Slavic origin, is a c.110G>C (p.Arg37Pro) pathogenic variant in homozygous or compound heterozygous state. In thi ...
DOI:
10.1007/s11033-019-05238-z

20. HTT Gene Premutation Allele Frequencies in the Russian Federation

Author:
A. V. Polyakov,   et al.   ; V. Zabnenkova; O. A. Schagina; N. M. Galeeva; S. V. Kopishinskaya;     Show all 5 Authors
Source:
Russian journal of genetics 2018 v.54 no.6 pp. 732-739
ISSN:
1022-7954
Subject:
alleles; counseling; exons; gene frequency; mutants; neurodegenerative diseases; patients; penetrance; progeny; risk; Russia
Abstract:
... Huntington disease (Huntington chorea, HD) is a severe neurodegenerative disease determined by polyglutamine. Polyglutamine expansion in exon 1 of the HTT gene causes Huntington disease. To date, less than 35 CAG triplets are suggested to be present in normal alleles. Alleles bearing from 27 to 35 CAG repeats are generally considered as intermediate or premutation. Alleles with the number of CAG r ...
DOI:
10.1134/S1022795418060169