A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations.

Structural variants (SVs) pose a challenge to detect and interpret, but their study provides novel biological insights and molecular diagnosis underlying rare diseases. The aim of this study was to resolve a 9p24 rearrangement segregating in a family through five generations with a congenital heart defect (congenital pulmonary and aortic valvular stenosis and pulmonary artery stenosis), by applying a combined genomic analysis. The analysis involved multiple techniques, including karyotype, chromosomal microarray analysis (CMA), FISH, genome sequencing (GS), RNA-seq, and optical genome mapping (OGM).

Quantitative Changes in Pro-Oncogenic and Tumor-Suppressing MicroRNA in the Regional Lymph Node during Photodynamic Therapy of Experimental Breast Cancer.

We studied quantitative changes in microRNAs in the axillary lymph node (regional lymph node of the mammary gland) and in the breast tumor tissue. The quantity of pro-oncogenic microRNAs (miR-21 and miR-221) in the regional lymph node decreased in the group after photodynamic therapy of the breast cancer. At the same time, the quantity of pro-oncogenic miR-27a remained decreased in this group, as well as in the group with breast cancer without treatment.

Brain-Region-Specific Genes Form the Major Pathways Featuring Their Basic Functional Role: Their Implication in Animal Chronic Stress Model.

The analysis of RNA-Sec data from murine bulk tissue samples taken from five brain regions associated with behavior and stress response was conducted. The focus was on the most contrasting brain region-specific genes (BRSG) sets in terms of their expression rates. These BRSGs are identified as genes with a distinct outlying (high) expression rate in a specific region compared to others used in the study.

Effect of Short Photoperiod on Behavior and Brain Plasticity in Mice Differing in Predisposition to Catalepsy: The Role of BDNF and Serotonin System.

Seasonal affective disorder is characterized by depression during fall/winter as a result of shorter daylight. Catalepsy is a syndrome of some grave mental diseases. Both the neurotransmitter serotonin (5-HT) and brain-derived neurotrophic factor (BDNF) are involved in the pathophysiological mechanisms underlying catalepsy and depressive disorders.

Association of three single nucleotide polymorphisms in the LPIN1 gene with milk production traits in cows of the Yaroslavl breed.

Lipin-1 is a member of the evolutionarily conserved family of proteins and is expressed predominantly in adipose tissue and skeletal muscle. On the one hand, lipin-1 is an enzyme that catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol (DAG) and thus participates in the metabolic pathways of biosynthesis of storage lipids in the cell, membrane phospholipids, and intracellular signaling molecules. On the other hand, lipin-1 is able to be transported from the cytoplasm to the nucleus and is a coactivator of lipid metabolism gene transcription.

Stimulation of mouse hematopoietic stem cells by angiogenin and DNA preparations.

Immature hematopoietic progenitors are a constant source for renewal of hemocyte populations and the basic component of the tissue and cell repair apparatus. A unique property of these cells of internalizing extracellular double-stranded DNA has been previously shown. The leukostimulatory effect demonstrated in our pioneering studies was considered to be due to the feature of this cell.

as a Platform for Heterologous Expression of Enzymes Used for Industry.

In the 1980s, was the preferred host for heterologous protein expression owing to its capacity for rapid growth in complex media; well-studied genetics; rapid and direct transformation with foreign DNA; and easily scalable fermentation. Despite the relative ease of use of for achieving the high expression of many recombinant proteins, for some proteins, e.g.

Advanced Research in Age-Related Macular Degeneration: Special Issue.

Age-related macular degeneration (AMD) is an eye disease that is the leading cause of irreversible vision loss in people over 55 years of age [...

A Knockout of Poly(ADP-Ribose) Polymerase 1 in a Human Cell Line: An Influence on Base Excision Repair Reactions in Cellular Extracts.

Base excision repair (BER) is the predominant pathway for the removal of most forms of hydrolytic, oxidative, and alkylative DNA lesions. The precise functioning of BER is achieved via the regulation of each step by regulatory/accessory proteins, with the most important of them being poly(ADP-ribose) polymerase 1 (PARP1). PARP1's regulatory functions extend to many cellular processes including the regulation of mRNA stability and decay.

Assessment of Autophagy in Tumor Cells of Human Skin Melanoma of Different Stages.

High levels of autophagy can increase the viability of tumor cells as well as their resistance to chemotherapy. Evaluation of the dynamics of autophagy processes at different stages of carcinogenesis can extend our understanding of melanoma pathogenesis to develop new therapeutic approaches. We performed a comparative study of tumor cell autophagy in stages II and III human skin melanoma.

Which Gelatin and Antibiotic Should Be Chosen to Seal a Woven Vascular Graft?

Among the vascular prostheses used for aortic replacement, 95% are woven or knitted grafts from polyester fibers. Such grafts require sealing, for which gelatin (Gel) is most often used. Sometimes antibiotics are added to the sealant.

iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia.

Defects in the low-density lipoprotein receptor (LDLR) are associated with familial hypercholesterolemia (FH), manifested by atherosclerosis and cardiovascular disease. LDLR deficiency in hepatocytes leads to elevated blood cholesterol levels, which damage vascular cells, especially endothelial cells, through oxidative stress and inflammation. However, the distinctions between endothelial cells from individuals with normal and defective LDLR are not yet fully understood.

Studying a collection of common-wheat varieties for leaf rust resistance, crop yield and grain quality in the environmental conditions of Novosibirsk region.

The relationship between a variety's genotype, environmental conditions and phytopathogenic load are the key factors contributing to high yields that should be taken into account in selecting donors for resistance and high manifestation of valuable traits. The study of leaf rust resistance in 49 common wheat varieties was carried out in the field against the natural pathogen background and under laboratory conditions using single-pustule isolates with virulence to Lr9 and Lr24. It has been shown that the varieties carrying alien genes Lr6Agi2 (Tulaikovskaya 10) and Lr6Agi1 (Voevoda) were resistant to leaf rust infection both in the field and in the laboratory.

[Prognosis criteria of optical coherence tomography angiography for the long-term efficacy of anti-VEGF therapy of neovascular age-related macular degeneration].

Purpose: The study aimed to determine the most significant optical coherence tomography angiography (OCTA) parameters in terms of predicting anti-VEGF therapy effectiveness during long-term (3-year) follow-up of patients with neovascular age-related macular degeneration (nAMD).

Material And Methods: The study included 122 patients (122 eyes) with mean age of 73.4±6.

Gene networks for use in metabolomic data analysis of blood plasma from patients with postoperative delirium.

Postoperative delirium (POD) is considered one of the most severe complications, resulting in impaired cognitive function, extended hospitalization, and higher treatment costs. The challenge of early POD diagnosis becomes particularly significant in cardiac surgery cases, as the incidence of this complication exceeds 50 % in certain patient categories. While it is known that neuroinflammation, neurotransmitter imbalances, disruptions in neuroendocrine regulation, and interneuronal connections contribute significantly to the development of POD, the molecular, genetic mechanisms of POD in cardiac surgery patients, along with potential metabolomic diagnostic markers, remain inadequately understood.

Dryocoetiops krivetsae sp. n. (Coleoptera: Curculionidae: Scolytinae: Dryocoetini), the northernmost species of the genus: conflicts between molecular and morphological data in the tribe Dryocoetini.

A new species of bark beetle, Dryocoetiops krivetsae Kerchev, Mandelshtam, Bykov et Ilinsky, sp. n., from the southern part of Primorsky Krai (Russian Far East), is described.

RatDEGdb: a knowledge base of differentially expressed genes in the rat as a model object in biomedical research.

The animal models used in biomedical research cover virtually every human disease. RatDEGdb, a knowledge base of the differentially expressed genes (DEGs) of the rat as a model object in biomedical research is a collection of published data on gene expression in rat strains simulating arterial hypertension, age-related diseases, psychopathological conditions and other human afflictions. The current release contains information on 25,101 DEGs representing 14,320 unique rat genes that change transcription levels in 21 tissues of 10 genetic rat strains used as models of 11 human diseases based on 45 original scientific papers.

Development, results and prospects of the spring durum wheat breeding in Russia (post-Soviet states).

The article outlines a brief historical background on the introduction to cultivation, distribution and breeding of spring durum wheat in the steppe and forest-steppe regions of Eurasia (the countries of the former USSR: Russia, Ukraine, and Kazakhstan). The approaches and methodology for improving durum wheat during certain scientific selection periods are given. The features of the selection program implementation and the breeding scale expansion during the creation of breeding stations at the beginning of the XX century, after the end of the Great Patriotic War, in the second half of the XX century, and at present are considered.

[The relationship between the relative length of leukocyte telomeres and mtDNA copy number and acute coronary syndrome in a 15-year follow-up.].

to study the association of relative leukocyte DNA telomere length with death from natural causes during a 15-year follow-up in a middle-aged and elderly Siberian population. Study of the association of the relative length of leukocyte telomeres (LTL) with fatal outcomes during a 15-year follow-up of a random population sample formed in 2003-2005 (n=9 360, 45-69 years old, Novosibirsk, HAPIEE project). The main group included the persons died from natural causes (except external) without a previous history of CVD and cancer (n=609); controls were stratified by sex and age (n=799).

Sex-limited experimental evolution drives transcriptomic divergence in a hermaphrodite.

The evolution of gonochorism from hermaphroditism is linked with the formation of sex chromosomes, as well as the evolution of sex-biased and sex-specific gene expression to allow both sexes to reach their fitness optimum. There is evidence that sexual selection drives the evolution of male-biased gene expression in particular. However, previous research in this area in animals comes from either theoretical models or comparative studies of already old sex chromosomes.

Fishing Innate Immune System Properties through the Transcriptomic Single-Cell Data of .

The innate immune system is the first line of defense in multicellular organisms. is widely considered a promising model for IIS-related research, with the most amount of scRNAseq data available among . We summarized the scRNAseq and spatial transcriptomics experiments related to the IIS for zebrafish and other from the GEO NCBI and the Single-Cell Expression Atlas.

Metabolic Blood Hormones in Young People With Electrocardiographic Signs of Ischemic Myocardial Changes.

Aim    To study changes in blood concentrations of metabolic hormones and adipocytokines in people aged 25-44 years with electrocardiographic (ECG) signs of ischemic changes in the myocardium.Material and methods This study was a part of a cross-sectional survey of a random sample of Novosibirsk population aged 25-44 years. The study included 1363 people divided into two groups: group 1, subjects with ECG signs of ischemic changes in the myocardium and group 2, subjects without ECG changes.