Homologous recombination deficiency (HRD) diagnostics: underlying mechanisms and new perspectives.

Homologous recombination deficiency (HRD) is considered a universal and effective sign of a tumor's sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. HRD diagnostics have undergone several stages of transformations: from detection of point mutations in HR-related genes and large regions with loss of heterozygosity detected using single-nucleotide polymorphism arrays to whole-genome signatures of single-nucleotide variants, large genomic rearrangements (LGRs), and copy number alterations. All these methods have their own advantages and limitations.

Design and commissioning of the PRIOR-II "proton microscope for FAIR".

A new high energy proton radiography facility PRIOR-II (Proton Microscope for FAIR) has been designed, constructed, and successfully commissioned at the GSI Helmholtzzentrum für Schwerionenforschung (Darmstadt, Germany) pushing the technical boundaries of charged particle radiography with normal conducting magnets to the limits. The setup is foreseen to become a new and powerful user facility for carrying out fundamental science experiments in the fields of plasma and shock wave physics, material science, and medical physics. It will help address several unsolved scientific challenges, which require high-speed and precise non-invasive diagnostic methods capable of probing matter with up to 100 g/cm2 areal density.

Radiation-Induced Transformations of an Isolated CH···HCN Complex: Possible Way to Synthesis of Interstellar Benzonitrile.

The recent detection of benzonitrile (CHCN) in the interstellar medium is one of the most fascinating discoveries in astrochemistry and molecular astrophysics. However, the mechanism of its formation in interstellar ices remains unclear. Here, we report the first evidence for the direct synthesis of benzonitrile through the radiation-induced transformations of an isolated CH···HCN complex in inert rigid media at cryogenic temperature (4.

Large Language Model for Automating the Analysis of Cryoprotectants.

The rapid expansion of scientific literature necessitates developing efficient data extraction and analysis methods. This study presents an innovative approach to automating the extraction of cryoprotectant information from scientific publications using a generative pretrained transformer (GPT) model integrated with a Telegram bot interface. Our system processes and analyzes scientific articles to identify and extract relevant data on cryoprotectants and bacteria, significantly reducing the time required for researchers to gather essential information.

The association between melatonin-containing food consumption and sleep/meal timing and behavior in children with language difficulties.

The purpose of this study was to investigate the sleep characteristics, circadian rhythms, behavior, and postnatal development of children with and without language difficulties (LDs) and the association of these variables with melatonin-containing food (FMT) consumption. The study involved parents who anonymously and voluntarily provided their children's personal data and assessed LDs, bedtime, meal timing, behavioral problems, gross motor skill development, and FMT consumption. Multiple regression analysis was used to analyze the associations between study variables.

Light Environment of Arctic Solstices is Coupled With Melatonin Phase-Amplitude Changes and Decline of Metabolic Health.

Light environment in the Arctic differs widely with the seasons. Studies of relationships between objectively measured circadian phase and amplitude of light exposure and melatonin in community-dwelling Arctic residents are lacking. This investigation combines cross-sectional (n = 24-62) and longitudinal (n = 13-27) data from week-long actigraphy (with light sensor), 24-h salivary melatonin profiles, and proxies of metabolic health.

Outcomes of a 12-month course of early and late rituximab BCD020 biosimilar administration in juvenile systemic lupus erythematosus: A retrospective study.

Background: Juvenile systemic lupus erythematosus (SLE) is a severe, life-threatening disease. However, the role of rituximab in managing juvenile SLE remains undefined, although early biological intervention may improve disease outcomes.

Aim: To assess the differences in the outcomes of different types of rituximab administration (early and late).

Anti-diabetic therapies on dental implant success in diabetes mellitus: a comprehensive review.

Background And Objective: Dental implant therapy faces challenges in patients with Type 1 and Type 2 Diabetes Mellitus (T1DM and T2DM) due to adverse effects on bone metabolism and immune response. Despite advancements, diabetic patients face higher risks of peri-implantitis and compromised osseointegration. This review assesses the impact of anti-diabetic medications on implant outcomes, offering insights to bridge the gap between animal studies and clinical practice.

Chaperones vs. oxidative stress in the pathobiology of ischemic stroke.

As many proteins prioritize functionality over constancy of structure, a proteome is the shortest stave in the Liebig's barrel of cell sustainability. In this regard, both prokaryotes and eukaryotes possess abundant machinery supporting the quality of the proteome in healthy and stressful conditions. This machinery, namely chaperones, assists in folding, refolding, and the utilization of client proteins.

Improved prediction of swimming talent through random forest analysis of anthropometric and physiological phenotypes.

Unlabelled: The field of competitive swimming lacks broadly applicable predictive models for talent identification across various age groups of adolescent swimmers. This study aimed to construct a predictive model for athletic talent using machine learning methods based on anthropometric and physiological data. Baseline data were collected from 5444 participants aged 10-18 in Shanghai, China, between 2015 and 2018, with 4969 completing a 3-year follow-up.

Gallophilous theory of cyclical parthenogenesis in aphids (Homoptera, Aphidinea).

The paper elaborates theoretical basis of the origin of aphid cyclical parthenogenesis in view of the original life of these insects in strobiloid galls on spp. The period of gall opening is greatly extended in time, which prevents normal panmixia and creates a selective advantage for parthenogenetic reproduction. Migration of aphids to secondary host plants, on which closed galls never form, parthenogenetic reproduction on these plants, and the subsequent simultaneous return of "remigrants" to the main host plant make it possible to synchronize the development of the bisexual generation and achieve mass panmixia at the end of the life cycle only; it coincides with the end of summer growth shoots or the autumn end of the vegetation period as a whole.

Targeting inerleukin-6 for renoprotection.

Sterile inflammation has been increasingly recognized as a hallmark of non-infectious kidney diseases. Induction of pro-inflammatory cytokines in injured kidney tissue promotes infiltration of immune cells serving to clear cell debris and facilitate tissue repair. However, excessive or prolonged inflammatory response has been associated with immune-mediated tissue damage, nephron loss, and development of renal fibrosis.

Biomarkers of success of anti-PD-(L)1 immunotherapy for non-small cell lung cancer derived from RNA- and whole-exome sequencing: results of a prospective observational study on a cohort of 85 patients.

Background: Immune checkpoint inhibitors (ICIs) treatment have shown high efficacy for about 15 cancer types. However, this therapy is only effective in 20-30% of cancer patients. Thus, the precise biomarkers of ICI response are an urgent need.

The frequent variant A57F in the gene in patients from Russia has Finno-Ugric Mari origin.

Introduction: GNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.

Methods: In this study, we investigated the allele frequency of the c.

Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated with the pathological variant c.2013T>G in the MAPT gene.

Frontotemporal dementia with parkinsonism-17 is a neurodegenerative disease characterised by pathological aggregation of the tau protein with the formation of neurofibrillary tangles and subsequent neuronal death. The inherited form of frontotemporal dementia can be caused by mutations in several genes, including the MAPT gene on chromosome 17, which encodes the tau protein. As there are currently no medically approved treatments for frontotemporal dementia, there is an urgent need for research using in vitro cell models to understand the molecular genetic mechanisms that lead to the development of the disease, to identify targets for therapeutic intervention and to test potential drugs to prevent neuronal death.

Cytogenetic features of intergeneric amphydiploids and genome-substituted forms of wheat.

Synthetic intergeneric amphydiploids and genome-substituted wheat forms are an important source for transferring agronomically valuable genes from wild species into the common wheat (Triticum aestivum L.) genome. They can be used both in academic research and for breeding purposes as an original material for developing wheat-alien addition and substitution lines followed by translocation induction with the aid of irradiation or nonhomologous chromosome pairing.

Transcription factor TCF4: structure, function, and associated diseases.

Our understanding of human genes - particularly their structure, functions, and regulatory mechanisms - is still limited. The biological role of approximately 20 % of human proteins has not been established yet, and the molecular functions of the known part of the proteome remain poorly understood. This hinders progress in basic and applied biological and medical sciences, especially in treating hereditary diseases, which are caused by mutations and polymorphic variants in individual genes.

Detailed cytogenetic analysis of three duck species (the northern pintail, mallard, and common goldeneye) and karyotype evolution in the family Anatidae (Anseriformes, Aves).

Galliformes and Anseriformes are two branches of the Galloanserae group, basal to other Neognathae. In contrast to Galliformes, Anseriformes have not been thoroughly researched by cytogenetic methods. This report is focused on representatives of Anseriformes and the evolution of their chromosome sets.

Polymorphic variants of the genes for enzymes of the antioxidant system, apoptosis and inflammation as potential predictors of myocardial infarction.

Myocardial infarction (MI) is a multifactorial polygenic disease that develops as a result of a complex interaction of numerous genetic factors and the external environment. Accordingly, the contribution of each of them separately is usually not large and may significantly depend on the state of other accompanying factors. The purpose of the study was to search for informative predictors of MI risk based on polygenic analysis of polymorphic variants of (1) the antioxidant defense enzyme genes PON1 (rs662), PON2 (rs7493), CAT (rs1001179), MSRA (rs10098474) and GSTP1 (rs1695); (2) the apoptosis genes CASP8 (rs3834129), TP53 (rs1042522) and BCL2 (rs12454712); and (3) the inflammation genes CRP (rs1205), CX3CR1 (rs3732378), IL6 (rs1800795) and CCL2 (rs1024611).

The concept of natural genome reconstruction.Part 1. Basic provisions of the "natural genome reconstruction" concept. Changing the genome of hematopoietic stem cells using several natural cellular mechanisms that are inherent in the hematopoietic cell and determine its biological status as "the source of the body's reparative potential".

We present a series of articles proving the existence of a previously unknown mechanism of interaction between hematopoietic stem cells and extracellular double-stranded DNA (and, in particular, double-stranded DNA of the peripheral bloodstream), which explains the possibility of emergence and fixation of genetic information contained in double-stranded DNA of extracellular origin in hematopoietic stem cells. The concept of the possibility of stochastic or targeted changes in the genome of hematopoietic stem cells is formulated based on the discovery of new, previously unknown biological properties of poorly differentiated hematopoietic precursors. The main provisions of the concept are as follows.

Molecular genetic and morphological characteristics of Micractinium thermotolerans and M. inermum (Trebouxiophyceae, Chlorophyta) from pyroclastic deposits of the Kamchatka Peninsula (Russia).

During the study of algal diversity in pyroclastic deposits of the Kamchatka Peninsula, Chlorella-like green algae strains VCA-72 and VCA-93 were isolated from samples collected from along the Baydarnaya river bed on the Shiveluch volcano in 2018 and at the outlet of thermal vapors along the edge of the caldera on the southern slope of the Gorely volcano in 2020. Identification of the strains was carried out within the framework of an integrative approach using microscopic and molecular genetic methods, including preliminary taxon identification, obtaining nucleotide sequences of the small subunit and the internal transcribed spacer rRNA, reconstruction of phylogenetic trees and secondary structures of the ITS1 and ITS2 rRNA regions. On the phylogenetic tree, strain VCA-93 was clustered in the Micractinium thermotolerans species clade.

The potential of the amaranth collection maintained at VIR in the context of global plant breeding and utilization trends.

Amaranth is an ancient crop of the family Amaranthaceae, but it is fairly new to Russia. Its seeds and leaf biomass contain a high-quality gluten-free protein, fatty acids, squalene (a polyunsaturated hydrocarbon), flavonoids, vitamins, and minerals. A comprehensive study of amaranth, enhancement of its breeding, and development of new cultivars will contribute to food quality improvement through the use of plant raw materials enriched for wholesome and highly nutritious components.

Comparative analysis of the primary structure and production of recombinant poly(ADP-ribose)polymerase 1 of long-lived Heterocephalus glaber.

DNA repair is a most important cellular process that helps maintain the integrity of the genome and is currently considered by researchers as one of the factors determining the maximum lifespan. The central regulator of the DNA repair process is the enzyme poly(ADP-ribose)polymerase 1 (PARP1). PARP1 catalyzes the synthesis of poly(ADP-ribose) polymer (PAR) upon DNA damage using nicotinamide adenine dinucleotide (NAD+) as a substrate.

Substantia nigra alterations in mice modeling Parkinson's disease.

Parkinson's disease (PD) is an age-related neurodegenerative pathology of the central nervous system. The well-known abnormalities characteristic of PD are dysfunctions in the nigrostriatal system including the substantia nigra of the midbrain and the striatum. Moreover, in PD persons, alpha-synucleinopathy is associated with abnormalities in the dopaminergic brain system.