Genetics
Seipinopathies: clinical variants of hereditary motor-sensory neuropathy and spastic paraplegia caused by mutations in the BSCL2 gene in patients from the Volga-Ural region
Volume 11, Issue №3, 2025
Background: Neuronal forms of seipinopathies are rare pathologies and are mainly caused by two pathogenic variants of the BSCL2 gene, p.269C>T (p.Ser90Leu) and p.263A>G (p.Asn88Ser). Incomplete penetrance and ...
Effect of the COVID-19 pandemic on the frequency and spectrum of chromosomal abnormalities in abortions in early pregnancy failure
Volume 11, Issue №3, 2025
Background: The adverse effects of COVID-19 have affected the condition of various human organs and systems, including the reproductive system; in this regard, the assessment of the ...
Associations of the 786T>C (rs2070744) polymorphism of the NOS3 gene with main somatometric indices and cardiovascular system characteristics in the age aspect in northern men
Volume 11, Issue №3, 2025
Background: A lack of information regarding the association between NOS3 gene polymorphism variants and age-related changes in basic somatometric characteristics and the circulatory system prevents us from ...
Clinic-laboratory blood parameters and the contribution of renin-angiotensin system gene polymorphisms in pregnant women with preeclampsia
Volume 11, Issue №2, 2025
Background: Preeclampsia (PE) is a pregnancy-related condition linked to hypertension and proteinuria. It is a major cause of maternal and perinatal mortality. The aim of the study: ...
The role of transposable elements in formation of evolutionary diversity of eukaryotic proteomes (review)
Volume 11, Issue №2, 2025
Background: Transposable elements make up a significant proportion of eukaryotic genomes and are objects of modern genetic research, including in the design of targeted tumor therapies. For ...
Associations of polymorphic loci of candidate genes with the level of sex hormones in patients with endometrial hyperplasia
Volume 11, Issue №2, 2025
Background: Endometrial hyperplasia (EH) is one of the most common gynaecological conditions in which sex hormones play an important role in the pathophysiology. The occurrence of hyperestrogenia against ...
Relationship of transposable elements with non-coding RNAs in the development of atherosclerosis (review)
Volume 11, Issue №1, 2025
Background: Atherosclerosis is the leading cause of cardiovascular pathology in adults around the world. Association of the disease with age indicates the presence of common mechanisms for ...
Pathway directed mechanisms of anti-EGFR resistance in colorectal cancer (review)
Volume 11, Issue №1, 2025
Background: Targeting the epidermal growth factor receptor (EGFR) with cetuximab or panitumumab (anti-EGFR MAb) has been historically reserved for patients with RAS/BRAF wild-type advanced colorectal cancer (CRC). However, ...
Association of polymorphic locus rs4880 of superoxide dismutase 2 gene (SOD2) with Polycystic Ovary Syndrome: A meta-analysis
Volume 11, Issue №1, 2025
Background: According to WHO, approximately 8-13% of women of reproductive age suffer from polycystic ovary syndrome (PCOS), while up to 70% of women worldwide with PCOS remain ...
Genetic variants of sex hormone-binding globulin and hormonal profile in patients with genital endometriosis
Volume 11, Issue №1, 2025
Background: Endometriosis is a chronic inflammatory, dyshormonal disease. Genetic factors play an important role in its development. Sex hormone imbalance is important for the occurrence, growth and ...
Characteristics of inter-locus interactions in the development of isolated and combined complications of pregnancy
Volume 10, Issue №4, 2024
Background: Pregnancy complications have a high prevalence and important medical and social implications. Genetic factors are involved in their development. The aim of the study: To study ...
Unusual chromosomal rearrangements detected by FISH in patients at high genetic risk
Volume 10, Issue №4, 2024
Background: Genetic and chromosomal causes in particular are responsible for a large percentage of pregnancy losses during the first trimester of pregnancy. Among chromosomal abnormalities, balanced or ...
Impact of Aerobic Exercise on Expression of OPN and OPG Genes and Bmal1 Protein in the Bone Tissue of Diabetic Rats During Two Phases of Light and Dark Circadian Rhythm
Volume 10, Issue №4, 2024
Background: Diabetes is a major global disease with a high mortality rate.The impact of exercise on bone tissue protection in diabetic rats during circadian cycle phases is unknown. ...
Ovarian cancer: the significant of gene methylation in carcinogenesis (review)
Volume 10, Issue №4, 2024
Background: Epigenetic regulation of genes plays an important role in the development of ovarian cancer. One of these mechanisms is DNA methylation of tumor suppressor genes and ...
Relationship between polymorphism rs1546155 of the GGT7 gene and the risk of ischemic stroke
Volume 10, Issue №3, 2024
Background: Since oxidative stress plays a role in the pathogenesis of ischemic stroke (IS), it is important to investigate the molecular mechanisms contributing to redox homeostasis and ...
Circulating platelet-derived microRNAs as potential biomarkers of STEMI in patients with hypertension
Volume 10, Issue №3, 2024
Background: Circulating extracellular platelet-derived microRNAs have been actively studied over the last decade as promising biomarkers of cardiovascular disease (CVD), since platelet activation plays a key role ...
Mycobacterium tuberculosis gene variants associated with drug resistance to fluoroquinolones (literature review)
Volume 10, Issue №3, 2024
Background: The spread of M. tuberculosis drug resistance to fluoroquinolones poses a threat to their long-term clinical efficacy. Understanding the mechanisms of formation of drug resistance to ...
Assessment of the relationship between marriage and migration characteristics of the population of the Belgorod region in dynamics over 130 years
Volume 10, Issue №3, 2024
Background: The importance of studying the dynamics of the population-demographic structure of the population of the south of Central Russia over several generations dictates the need to ...
Geno-phenotypic features of cystic fibrosis in Russian children from the Chechen and Karachay-Cherkess Republics
Volume 10, Issue №3, 2024
Background: Cystic fibrosis (CF) is an autosomal recessive disease that occurs with a frequency of 1:1,500 to 1:5,000 newborns, according to the World Health Organization. In the ...
Genetic variant rs11568818 of matrix metalloproteinase MMP7 associated with newborn weight in pregnant women with fetal growth restriction
Volume 10, Issue №2, 2024
Background: Fetal growth restriction is a common complication of pregnancy that has been associated with a variety of adverse perinatal outcomes. The condition carries significant risks of ...
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