Hengzongshu/ArticleAgent huggingface dataset:
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking intronic regions of the GJB2 gene have not been described thoroughly in the Sakha Republic (Yakutia), which is located in a subarctic region in Russia.

The complete sequencing of the non-coding and coding regions of the GJB2 gene was performed in 393 patients with HI (Yakuts—296, Russians—51, mixed and other ethnicities—46) and in 187 normal hearing individuals of Yakut (n = 107) and Russian (n = 80) populations.

In the total sample (n = 580), we revealed 12 allelic variants of the GJB2 gene, 8 of which were recessive pathogenic variants. Ten genotypes with biallelic recessive pathogenic variants in the GJB2 gene (in a homozygous or a compound heterozygous state) were found in 192 out of 393 patients (48.85%). We found that the most frequent GJB2 pathogenic variant in the Yakut patients was c.-23+1G>A (51.82%) and that the second most frequent was c.109G>A (2.37%), followed by c.35delG (1.64%). Pathogenic variants с.35delG (22.34%), c.-23+1G>A (5.31%), and c.313_326del14 (2.12%) were found to be the most frequent among the Russian patients. The carrier frequencies of the c.-23+1G>A and с.109G>A pathogenic variants in the Yakut control group were 10.20% and 2.80%, respectively. The carrier frequencies of с.35delG and c.101T>C were identical (2.5%) in the Russian control group. We found that the contribution of the GJB2 gene pathogenic variants in HI in the population of the Sakha Republic (48.85%) was the highest among all of the previously studied regions of Asia. We suggest that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut population (92.20% of all mutant chromosomes in patients) and an extremely high (10.20%) carrier frequency in the control group may indicate a possible selective advantage for the c.-23+1G>A carriers living in subarctic climate.
Quantitative characteristics of interaction recombinant TATA-binding protein (TBP) with oligonucleotides identical to natural TATA-containing promoter region genes of mammals are received. In particular, new experimental data about the importance guanine in 8-th position of the TATA-element for affinity to TBP are received. The experimental data, testifying that raised maintenance G and С nucleotides in flanks of TATA-element does the contribution to affinity to TBP are received.
Multiplex microsphere-based immunofluorescence assay is a reliable, accurate, and highly sensitive method for the detection of various biomolecules. However, for the moment, the wide application of the method in clinical practice is prevented by the high cost of reagents for analysis - magnetic spectrally encoded microspheres. Therefore, an urgent task is the development of new methods for the synthesis of microspheres with the required properties. The aim of this study was the creation of new magnetic fluorescent microspheres suitable for use in multiplex immunoassay.Samples of magnetic fluorescent polystyrene microspheres were synthesized by dispersion polymerization and two-stage swelling methods. Experimental studies of geometric parameters, fluorescence, magnetic properties of the synthesized microspheres have been carried out.The results of the studies have shown that microspheres synthesized by dispersion polymerization are promising for the use in immunofluorescence analysis. The obtained results can be used for the development of new diagnostic multiplex test systems based on spectrally encoded microspheres.
Stress response is essential for the organism to quickly restore physiological homeostasis disturbed by various environmental insults. In addition to well-established physiological cascades, stress also evokes various brain and behavioral responses.

Aquatic animal models, including the zebrafish (Danio rerio), have been extensively used to probe pathobiological mechanisms of stress and stress-related brain disorders.

Here, we critically discuss the use of zebrafish models for studying mechanisms of stress and modeling its disorders experimentally, with a particular cross-taxon focus on the potential evolution of stress responses from zebrafish to rodents and humans, as well as its translational implications.
Bombus pomorum (Panzer, 1805) is known from Europe, Anatolia, the Caucasus, and to the Urals in Russia.

Two specimens have been collected in the south of western Siberia for the first time. It is possible that the species is indigenous to Siberia but was not discovered until regular observations were made. There is also a possibility that this observation results from an expansion of the range of B. pomorum.

We consider the evidence that our study coincided with a range expansion of the bumblebee species B. pomorum and B. sylvarum (Linnaeus,1761) near the end of 20th century. The distribution and abundance of B. pomorum in Russia and conservation efforts are also discussed.
For the first time, derivatives of 3,7-diazabicyclo[3.3.1]nonane (bispidine) were proposed as potential inhibitors of the SARS-CoV-2 main viral protease (3-chymotrypsin-like, 3CLpro). Based on the created pharmacophore model of the active site of the protease, a group of compounds were modeled and tested for activity against 3CLpro. The 3CLpro activity was measured using the fluorogenic substrate Dabcyl-VNSTLQSGLRK(FAM)MA; the efficiency of the proposed approach was confirmed by comparison with literature data for ebselen and disulfiram. The results of the experiments performed with bispidine compounds showed that 14 compounds exhibited activity in the concentration range 1-10 μM, and 3 samples exhibited submicromolar activity. The structure-activity relationship studies showed that the molecules containing a carbonyl group in the ninth position of the bicycle exhibited the maximum activity. Based on the experimental and theoretical results obtained, further directions for the development of this topic were proposed.
We develop an analytical theory of dark resonances that accounts for the full atomic-level structure, as well as all field-induced effects such as coherence preparation, optical pumping, ac Stark shifts, and power broadening. The analysis uses a model based on relaxation constants, which assumes the total collisional depolarization of the excited state. A good qualitative agreement with the experiments for Cs in Ne is obtained.
An analysis is reported of singlet-triplet conversion in molecular hydrogen dissolved in solution together with organometallic complexes used in experiments with parahydrogen (the H2 molecule in its nuclear singlet spin state).

We demonstrate that this conversion, which gives rise to formation of orthohydrogen (the H2 molecule in its nuclear triplet spin state), is a remarkably efficient process that strongly reduces the resulting NMR (nuclear magnetic resonance) signal enhancement, here of 15N nuclei polarized at high fields using suitable NMR pulse sequences. We make use of a simple improvement of traditional pulse sequences, utilizing a single pulse on the proton channel that gives rise to an additional strong increase of the signal. Furthermore, analysis of the enhancement as a function of the pulse length allows one to estimate the actual population of the spin states of H2.

We are also able to demonstrate that the spin conversion process in H2 is strongly affected by the concentration of 15N nuclei. This observation allows us to explain the dependence of the 15N signal enhancement on the abundance of 15N isotopes.
We construct an effective four-dimensional model by compactifying a ten-dimensional theory of gravity coupled with a real scalar dilaton field on a time-dependent torus. The corresponding action in four dimensions is similar to the action of K-essence theories.

This approach is applied to anisotropic cosmological Bianchi type VI(h=-1) model for which we study the classical coupling of the anisotropic scale factors with the two real scalar moduli produced by the compactification process. The classical Einstein field equations give us a hidden symmetry, corresponding to the equality between two radii B=C, which permits us to solve exactly the equations of motion. With this hidden symmetry, then we solve the FRW model, finding that the scale factor goes to B radii. Also the corresponding Wheeler-DeWitt (WDW) equation in the context of Standard Quantum Cosmology is solved, building a wavepacket when the scalar fields have a hyperbolic behavior.

One relation between the scale factors (A,C) via the solutions is found. Obtaining some qualitative results when we analyze the projection plane to the wall formed by the probability density. Bohm’s formalism for this cosmological model is revisited too.
Background Understanding the influence of genetic variants on DNA methylation is fundamental for the interpretation of epigenomic data in the context of disease. There is a need for systematic approaches not only for determining methylation quantitative trait loci (methQTL) but also for discriminating general from cell-type-specific effects.

Results Here, we present a two-step computational framework MAGAR , which fully supports identification of methQTLs from matched genotyping and DNA methylation data, and additionally the identification of quantitative cell-type-specific methQTL effects. In a pilot analysis, we apply MAGAR on data in four tissues (ileum, rectum, T-cells, B-cells) from healthy individuals and demonstrate the discrimination of common from cell-type-specific methQTLs. We experimentally validate both types of methQTLs in an independent dataset comprising additional cell types and tissues. Finally, we validate selected methQTLs ( PON1 , ZNF155 , NRG2 ) by ultra-deep local sequencing.

In line with previous reports, we find cell-type-specific methQTLs to be preferentially located in enhancer elements. Conclusions Our analysis demonstrates that a systematic analysis of methQTLs provides important new insights on the influences of genetic variants to cell-type-specific epigenomic variation.
Understanding the influence of genetic variants on DNA methylation is fundamental for the interpretation of epigenomic data in the context of disease. There is a need for systematic approaches not only for determining methylation quantitative trait loci (methQTL), but also for discriminating general from cell type-specific effects. Here, we present a two-step computational framework MAGAR ( https://bioconductor.org/packages/MAGAR ), which fully supports the identification of methQTLs from matched genotyping and DNA methylation data, and additionally allows for illuminating cell type-specific methQTL effects. In a pilot analysis, we apply MAGAR on data in four tissues (ileum, rectum, T cells, B cells) from healthy individuals and demonstrate the discrimination of common from cell type-specific methQTLs. We experimentally validate both types of methQTLs in an independent data set comprising additional cell types and tissues. Finally, we validate selected methQTLs located in the PON1, ZNF155, and NRG2 genes by ultra-deep local sequencing. In line with previous reports, we find cell type-specific methQTLs to be preferentially located in enhancer elements. Our analysis demonstrates that a systematic analysis of methQTLs provides important new insights on the influences of genetic variants to cell type-specific epigenomic variation.
Chromosomal rearrangements are proposed to promote genetic differentiation between chromosomally differentiated taxa and therefore promote speciation. Due to their remarkable karyotypic polymorphism, the shrews of the Sorex araneus group were used to investigate the impact of chromosomal rearrangements on gene flow. Five intraspecific chromosomal hybrid zones characterized by different levels of karyotypic complexity were studied using 16 microsatellites markers. We observed low levels of genetic differentiation even in the hybrid zones with the highest karyotypic complexity. No evidence of restricted gene flow between differently rearranged chromosomes was observed. Contrary to what was observed at the interspecific level, the effect of chromosomal rearrangements on gene flow was undetectable within the S. araneus species.
We consider a resource-constrained project scheduling problem with respect to the makespan minimization criterion. The problem accounts for technological constraints of activities precedence together with resource constraints. Activities pre- emptions are not allowed. The problem with renewable resources is NP-hard in the strong sense.

We propose an exact branch and bound algorithm for solving the problem with renewable resources. It uses our new branching scheme based on the representation of a schedule in form of the activity list. We use two approaches of constructing the lower bound.

We present results of numerical experiments, illustrating the quality of the proposed lower bounds. The test instances are taken from the library of test instances PSPLIB.
Hcp–Ir0.24Ru0.36Os0.40 and fcc–Ir0.84Ru0.06Os0.10 ternary alloys as well as binary hcp–Ir0.33Ru0.67 and fcc–Ir0.75Ru0.25 alloys were prepared using thermal decomposition of [IrxRu1-x(NH3)5Cl][OsyIr(1-y)Cl6] single-source precursors in hydrogen flow below 1070 K. These single-phase alloys correspond to ternary and binary peritectic phase diagrams and can be used as synthetic models for rare iridosmine minerals. Thermal decomposition of parent bimetallic precursor [Ir(NH3)5Cl][OsСl6] has been investigated using in situ powder X-ray diffraction in inert and reductive atmospheres. In reductive atmosphere, [Ir(NH3)5Cl][OsСl6] forms (NH4)2[OsСl6<] as crystalline intermediate; Ir from its cationic part is reduced by hydrogen with a formation of defect fcc -structured metallic particles; the final product is a metastable hcp I.0.5Os0.5 alloy. In inert atmosphere, the salt decomposes at higher temperature without a formation of any detectable crystalline intermediates; two-phase fcc+hcp mixture forms directly above 800 K. Room temperature compressibility up to 50 GPa has been studied for all prepared alloys in diamond anvil cells. Hcp–Ir0.24Ru0.36Os0.40 (B0 = 362(4) GPa, B0' = 4.8(2)) and fcc–Ir0.84Ru0.06Os0.10 (B0 = 302(7) GPa, B0' = 6.4(5)) ternary alloys as well as hcp–Ir0.33Ru0.67 (B0 = 332(2) GPa, B0' = 5.4(1)) and fcc–Ir0.75Ru0.25 (B0 = 316(1) GPa, B0' = 5.1(1)) binary alloys do not show any phase transitions upon compression at room temperature. In contrast with other investigated ultra incompressible refractory alloys with osmium and iridium, hcp–Ir0.33Ru
This article concerns John Maringer's views on the development of Stone Age in Mongolia.It aims to analyse his works as an important stage of the archaeological study of the Mongolian Stone Age in early 20th century; some feedback and criticism from different authors, both from Russia and from the West, are also discussed.J. Maringer performs the biggest role in the study of the archeological legacy of the Sino-Swedish Expedition led by S. Hedin and the Central-Asian Expedition led by R.C. Andrews.However, he remains relatively unknown in Russian historiography despite his important and somewhat unique role in the archaeological study of Central Asia and, more precisely, the Sino-Swedish Expedition, which by itself deserves more interest from Russian science.

Connection between Southern Siberia and Mongolia, as seen by J. Maringer, might be of some interest for Russian archaeology.

Some of his other points state absence of any evidence of the shift from Mesolithic to Late Neolithic times and the division of Neolithic period in Inner Mongolia into several sub-categories, namely facies.It is important for the historiography of archaelogy as it is viewed in Russia to include these studies since they were very progressive for their time and gathered a lot of archaeological evidence.
In the south of western Siberia (Russia), there are many unique and unexplored soda, saline, and freshwater lakes. In this study, the results are presented on microbial diversity, its metabolic potential, and their relation with a set of geochemical parameters for a hypersaline lake ecosystem in the Novosibirsk region (Oblast). The metagenomic approach used in this work allowed us to determine the composition and structure of a floating microbial community, the upper layer of silt, and the strata of bottom sediments in a natural saline lake via two bioinformatic approaches, whose results are in good agreement with each other. In the floating microbial community and in the upper layers of the bottom sediment, bacteria of the Proteobacteria (Gammaproteobacteria), Cyanobacteria, and Bacteroidetes phyla were found to predominate. The lower layers were dominated by Proteobacteria (mainly Deltaproteobacteria), Gemmatimonadetes, Firmicutes, and Archaea. Metabolic pathways were reconstructed to investigate the metabolic potential of the microbial communities and other hypothetical roles of the microbial communities in the biogeochemical cycle. Relations between different taxa of microorganisms were identified, as was their potential role in biogeochemical transformations of C, N, and S in a comparative structural analysis that included various ecological niches.
The Chatkal‐Kurama terrane represents a key region in understanding the tectonic evolution of the western Tian Shan. In this contribution, we present new thermochronological data (zircon [U‐Th‐Sm]/He, apatite fission track, and apatite [U‐Th‐Sm]/He) and the associated thermal history models for 30 igneous samples from the Chatkal‐Kurama terrane within Uzbekistan and Tajikistan (west of the Talas‐Fergana Fault) and integrate our data with published data from the central Tian Shan (east of the Talas‐Fergana Fault). The Chatkal‐Kurama terrane experienced a phase of rapid cooling during the Triassic‐Jurassic at ca. 225–190 Ma, which we interpret as a far‐field response to the closure of the Palaeo‐Asian Ocean or the accretion of the Qiangtang terrane on to the Eurasian margin. In the Late Jurassic to the Early Cretaceous, the Chatkal‐Kurama terrane experienced a period of tectonic stability and denudation, before transitioning into a period of marine incursions of the Paratethys Sea. In contrast, fast cooling is recorded for the Kyrgyz central Tian Shan to the east of the Talas‐Fergana Fault. The differing thermal histories at either side of the Talas‐Fergana Fault suggest that the fault induced a topographic divide during the Late Jurassic‐Early Cretaceous, with high relief in the east (Kyrgyz Tian Shan) and low relief to the west (Uzbek‐Tajik Tian Shan). Finally, the Chatkal‐Kurama terrane experienced renewed tectonic activity since ca. 30 Ma, related with the distant India‐Eurasia collision and Pamir indentation. The Cenozoic reactivation induced crustal tilting of the Chatkal‐Kurama terrane, progressively exposing deeper rocks to the southwest.
In the following contribution certain types of activities established in Russia within the last decade, which are devoted to popularization of science in particular crystallography, will be highlighted. Some of these projects have already been launched and could be recognized as both successfully and fast developing. Some of these events will take place during the International Year of Crystallography 2014.

The most exciting event, at this present time, is the creation of a science café. This will involve lectures from top-ranked scientific experts taking place in a very informal atmosphere, for example in the café, gallery, park or another public place. Open discussions as well as games or questions from the lecturer to audience and vise versa could also take place here. Such project, namely "Science Café Eureka!", led to the bigger conception of a Science Festival, "Eureka!fest", to be held in Novosibirsk in May 2014. The festival structure is based on the "edutainment" format which means a combination of education and entertainment as a brand-new way of information exchange.

A significant part of the comprehensive Festival program will be directly related to crystallography in honor of the International Year of Crystallography 2014. Another example of education in an informal environment is the Summer School of Russian Reporter Magazine. Originally supposed to be a journalistic event, this school has become a great place for spreading scientific knowledge to a very diverse audience in terms of both age and educational background. It should be noted that Summer School supports scientific journalism (not journalism about science which can be regarded as completely different) as an important tool of spreading up-to-date advances in science in a very accessible manner.
This study is devoted to an analysis of microseisms registered on gas-condensate field area. Presence of seismic emission effect on a part of the area is demonstrated. A microseismic anomaly is outlined in NW part of the area and proves correct by 3 seismic CDP profiles and interpreted as a reservoir. The results of the special processing was compared to the results of a set of other geophysical methods. Correlation between the found anomaly and an anomaly found with aerogamma-specrtometry is shown. The results can be used in an integrated interpretation of geophysical data for oil and gas reservoirs of both structural as nonstructural types.
Mutations in the GJB2 gene are the main cause for nonsyndromic autosomal recessive deafness 1A (DFNB1A) in many populations. GJB2 mutational spectrum and pathogenic contribution are widely varying in different populations. Significant efforts have been made worldwide to define DFNB1A molecular epidemiology, but this issue still remains open for some populations.

The main aim of study is to estimate the DFNB1A prevalence and GJB2 mutational spectrum in Tuvinians-an indigenous population of the Tyva Republic (Southern Siberia, Russia). Sanger sequencing was applied to analysis of coding (exon 2) and non-coding regions of GJB2 in a cohort of Tuvinian patients with hearing impairments (n = 220) and ethnically matched controls (n = 157).

Diagnosis of DFNB1A was established for 22.3% patients (28.8% of familial vs 18.6% of sporadic cases). Our results support that patients with monoallelic GJB2 mutations (8.2%) are coincidental carriers. Recessive mutations p.Trp172Cys, c.-23+1G>A, c.235delC, c.299_300delAT, p.Val37Ile and several benign variants were found in examined patients. A striking finding was a high prevalence of rare variant p.Trp172Cys (c.516G>C) in Tuvinians accounting for 62.9% of all mutant GJB2 alleles and a carrier frequency of 3.8% in controls. All obtained data provide important targeted information for genetic counseling of affected Tuvinian families and enrich current information on variability of GJB2 worldwide.
In this paper the features of the capital structure of oil and gas companies are considered, a comparative analysis of own and borrowed capital of oil and gas companies structures is carried out.
Thiophene-phenylene co-oligomers (TPCOs) are among the most promising materials for organic light emitting devices.

Here we report on record high among TPCO single crystals photoluminescence quantum yield reaching 60%. The solution-grown crystals are stronger luminescent than the vapor-grown ones, in contrast to a common believe that the vapor-processed organic electronic materials show the highest performance. We also demonstrate that the solution-grown TPCO single crystals perform in organic field effect transistors as good as the vapor-grown ones.

Altogether, the solution-grown TPCO crystals are demonstrated to hold great potential for organic electronics.