Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.

To identify credible causal risk variants (CCVs) associated with different histotypes of epithelial ovarian cancer (EOC), we performed genome-wide association analysis for 470,825 genotyped and 10,163,797 imputed SNPs in 25,981 EOC cases and 105,724 controls of European origin. We identified five histotype-specific EOC risk regions (p value <5 × 10) and confirmed previously reported associations for 27 risk regions. Conditional analyses identified an additional 11 signals independent of the primary signal at six risk regions (p value <10).

A Microfluidic and Numerical Analysis of Non-equilibrium Phase Behavior of Gas Condensates.

Conventional assumptions about multiphase flow in gas condensate reservoirs often do not correlate with field production. This discrepancy stems from the various mechanisms influencing the multiphase process, which are inadequately represented in numerical models. One of the least understood mechanisms is the influence of the non-equilibrium thermodynamics on the flow in the wellbore region, where the reservoir pressure is below the dew point pressure.

Understanding the genetic complexity of puberty timing across the allele frequency spectrum.

Pubertal timing varies considerably and has been associated with a range of health outcomes in later life. To elucidate the underlying biological mechanisms, we performed multi-ancestry genetic analyses in ~800,000 women, identifying 1,080 independent signals associated with age at menarche. Collectively these loci explained 11% of the trait variance in an independent sample, with women at the top and bottom 1% of polygenic risk exhibiting a ~11 and ~14-fold higher risk of delayed and precocious pubertal development, respectively.

Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.

Hereditary cataracts are characterized by significant clinical and genetic heterogeneity, which can pose challenges for early DNA diagnosis. To comprehensively address this problem, it is essential to investigate the epidemiology of the disease, perform population studies to determine the spectrum and frequencies of mutations in the responsible genes, and examine clinical and genetic correlations. Based on modern concepts, non-syndromic hereditary cataracts are predominantly caused by genetic disease forms associated with mutations in crystallin and connexin genes.

Two methods of forming flat magnetic structures in magnetic films with topological features.

The paper investigates vortex-like structures observed in ferromagnetic films with strong uniaxial easy-plane anisotropy in the presence of topological features in them. Two approaches to the creation of such features are considered, namely, perforation of the sample and the inclusion of artificial defects in it, and a theorem on their equivalence is proved, according to which the structure of magnetic inhomogeneities arising in the film itself turns out to be the same for both approaches. In the second case, the properties of magnetic vortices formed on defects are also studied, and for cylindrical defects explicit analytical expressions for the energy and configuration of vortices are obtained, which are applicable in a wide range of values of material parameters.

Larches of Kuzhanovo Have a Unique Mutation in the Intergenic Spacer.

The larches of Kuzhanovo ( Ledeb.) are protected trees with a round crown growing in the Southern Urals. In 2020 vandals sawed the sapwood of these trees, which exposed the problem of insufficient conservation measures.

Nutation Excitations in the Gyrotropic Vortex Dynamics in a Circular Magnetic Nanodot.

A significant activity is devoted to the investigation of the ultrafast spin dynamic processes, holding a great potential for science and applications. However, a challenge of the understanding of the mechanisms of underlying spin dynamics in nanomaterials at pico- and femtosecond timescales remains under discussion. In this article, we explore the gyrotropic vortex dynamics in a circular soft magnetic nanodot, highlighting the impacts given by nutations in the high-frequency part of the dot spin excitation spectrum.

FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.

Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry.

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.

Background: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes.

Methods: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls.

Metal/Graphene Composites: A Review on the Simulation of Fabrication and Study of Mechanical Properties.

Although carbon materials, particularly graphene and carbon nanotubes, are widely used to reinforce metal matrix composites, understanding the fabrication process and connection between morphology and mechanical properties is still not understood well. This review discusses the relevant literature concerning the simulation of graphene/metal composites and their mechanical properties. This review demonstrates the promising role of simulation of composite fabrication and their properties.

Role of Endogenous Salicylic Acid as a Hormonal Intermediate in the Bacterial Endophyte -Induced Protection of Wheat Genotypes Contrasting in Drought Susceptibility under Dehydration.

Endophytic is a non-pathogenic beneficial bacterium which promotes plant growth and tolerance to abiotic stresses, including drought. However, the underlying physiological mechanisms are not well understood. In this study, the potential role that endogenous salicylic acid (SA) plays in regulating endophytic -mediated drought tolerance in wheat ( L.

Responses of Spring Barley to Zn- and Cd-Induced Stress: Morphometric Analysis and Cytotoxicity Assay.

Heavy metals such as cadmium (Cd) and zinc (Zn) could be dangerous and pollute the environment due to their high migration ability, robust bioavailability, and acute toxicity to soil biota and plants. Considering the above characteristics of these elements, the study's aim was to explore the individual and combined impact of Cd and Zn contamination of Haplic Chernozem on growing two-row spring barley ( L.).

Finite Element Modeling for Virtual Design to Miniaturize Medical Implants Manufactured of Nanostructured Titanium with Enhanced Mechanical Performance.

The study is aimed to virtually miniaturize medical implants produced of the biocompatible Ti with improved mechanical performance. The results on the simulation-driven design of medical implants fabricated of nanostructured commercially pure Ti with significantly enhanced mechanical properties are presented. The microstructure of initially coarse-grained Ti has been refined to ultrafine grain size by severe plastic deformation.

Possibility of chiral recognition by adsorption on enantiomorphous crystals: the impact of crystal surface polarity.

Chiral crystals remain one of the probable sources of first minute chiral symmetry breaking, a trigger that potentially causes an as-yet unknown type of asymmetric autocatalysis during the formation of chiral biopolymers under the conditions of the Archean Earth. Therefore, studying adsorption processes on the surface of such crystals may help improve the understanding of the nature of the initial chiral shift. The adsorptive activity of non-porous crystals with respect to the majority of organic molecules essentially depends on the ability of a crystal surface to engage in specific intermolecular interactions.

Stability of nontrivial magnetic structures in ferromagnetic films with antidots.

The paper investigates stability conditions of vortex-like inhomogeneities in perforated ferromagnet films with strong uniaxial anisotropy of the 'easy plane' type. It has been demonstrated that the non-trivial magnetic structures, which are characterized by the absence of an exit of the magnetization vector from the film's plane, can be observed at the absolute values of the anisotropy constant which exceed a certain threshold point. Possible methods (analytical, numeric, and empiric) have been developed to calculate this threshold value.

Supersonic Motion of Atoms in an Octahedral Channel of fcc Copper.

In this work, the mass transfer along an octahedral channel in an fcc copper single crystal is studied for the first time using the method of molecular dynamics. It is found that the initial position of the bombarding atom, outside or inside the crystal, does not noticeably affect the dynamics of its motion. The higher the initial velocity of the bombarding atom, the deeper its penetration into the material.

Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review.

Osteogenesis imperfecta (OI) is a large group of genetically heterogeneous diseases resulting from decreased bone density and an abnormal microarchitecture, which are clinically manifested by abnormal bone fractures. A distinctive clinical feature of this group of diseases is the presence of spontaneous fractures and skeletal deformities. However, the clinical manifestations of different types of OI are characterized by marked polymorphism with variable severity of skeletal and extra-skeletal features.

QSPR Modeling and Experimental Determination of the Antioxidant Activity of Some Polycyclic Compounds in the Radical-Chain Oxidation Reaction of Organic Substrates.

The present work addresses the quantitative structure−antioxidant activity relationship in a series of 148 sulfur-containing alkylphenols, natural phenols, chromane, betulonic and betulinic acids, and 20-hydroxyecdysone using GUSAR2019 software. Statistically significant valid models were constructed to predict the parameter logk7, where k7 is the rate constant for the oxidation chain termination by the antioxidant molecule. These results can be used to search for new potentially effective antioxidants in virtual libraries and databases and adequately predict logk7 for test samples.

The Microstructure and Strength of UFG 6060 Alloy after Superplastic Deformation at a Lower Homologous Temperature.

The paper reports on the features of low-temperature superplasticity of the heat-treatable aluminum Al-Mg-Si alloy in the ultrafine-grained state at temperatures below 0.5 times the melting point as well as on its post-deformation microstructure and tensile strength. We show that the refined microstructure is retained after superplastic deformation in the range of deformation temperatures of 120-180 °C and strain rates of 5 × 10 s-10 s.

Effect of Microstructure Refinement on the Corrosion Behavior of the Bioresorbable Mg-1Zn-0.2Ca and Mg-1Ca Alloys.

This paper presents a comprehensive study of the effect of the processing by high-pressure torsion (HPT) on the corrosion behavior in Ringer's solution for two popular bioresorbable magnesium alloys-Mg-1Ca and Mg-1Zn-0.2Ca. Three states were studied for each alloy-the initial homogenized state, the as-HPT-processed state and the state after subsequent annealing at 250 and 300 °C.

Individual Differences in Relative Telomere Length in Mentally Healthy Subjects: The Effect of Gene Polymorphism and Urban Residency.

The changes in the telomere length caused by the terminal underreplication in the existing literature are related to depressive disorders. However, the use of the telomere length as a biomarker of depressive states is ambiguous, which is due to the effect of various environmental factors on both the psychoemotional state and cellular aging of an organism. In order to identify the possible use of the relative telomere length (RTL) measured in peripheral blood leukocytes as a biomarker of enhanced liability to depression prior to the clinical symptoms, as well as to determine the link between telomere length, sociodemographic factors, allelic variants of the genes involved in the regulation of telomere elongation, and depression level, the association analysis of reverse transcriptase ( rs7726159), telomerase RNA component ( rs1317082), and the CST complex encoding protein ( rs2487999) gene polymorphisms was performed with RTL and depression level in mentally healthy individuals ( = 1065) aged 18-25 years.