Found: 33
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2026 · pp. 24–33
Lapkina E.Z., Zinchenko I.S., Bondar Е.I., Ruksha T.G.
Introduction. Cancer drug resistance is driven among others, by non-genetic mechanisms. These processes may involve transcription factors dysregulation, modifications in gene expression, as well as epigenetic mechanisms such as DNA methylation, histone modific…
ОБЗОР2026 · pp. 75–83
Aselderova A.I., Magaramov A.M., Huseynov A.G., Yuzbekov G.D.E., Merzlenko D.D., Yusupova E.A., Musaeva P.R.
Relevance. Modern approaches to detecting circulating tumor DNA (ctDNA) and cell-free DNA (cfDNA) demonstrate high potential for improving the accuracy of molecular diagnostics of tumors and require a comprehensive analysis of all stages, from the biology of f…
ОБЗОР2026 · pp. 80–88
Kagirova E.M., Khusainova R.I., Mokrysheva N.G., Minniakhmetov I.R., Pavlov V.N.
Introduction. Breast cancer (BC) is a heterogeneous disease that represents a major global health problem. It is the most frequently diagnosed cancer in the world, with the incidence of breast cancer increasing year by year in most countries. The existence of …
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2025 · pp. 108–115
Laskina T.A., Zabolotneva A.A., Kharchev D.N., Shestopalov A.V.
Alcohol consumption has a detrimental effect on human health and is associated with various pathological changes in the body. In addition to the toxic effect on various tissues and organs, ethanol and its metabolites contribute to persistent changes in the com…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2025 · pp. 86–91
Burakova I.Yu., Gryaznova M.V., Smirnova Y.D., Morozova P.D., Chizhkov P.A., Lagutina S.N., Syromyatnikov M.Yu.
Introduction: Studying the relationship between functional dyspepsia and gut microbiota will provide insight into the role of individual microorganisms and their metabolic products in the development of this pathology. The aim of the study was to analyze the m…
ОБЗОР2025 · pp. 11–18
Seliverstov P.V., Shapovalov V.V., Kravchuk Y.A., Salikova S.P., Shavaeva F.V., Isaeva P.A., Salmanova M.M., Arslanbekova R.M.
Introduction. Personalized (precision) medicine is rapidly changing modern healthcare, shifting the focus from disease treatment to prevention and individualized patient approach. The integration of artificial intelligence (AI) technologies and molecular medic…
ОБЗОР2024 · pp. 9–15
Neryakhin A.D., Tukhbatullin A.A., Khannanova G.R., Rafikova G.A., Enikeeva K.I.
Introduction. Sequencing of single cells makes it possible to characterize the cellular and molecular composition of tissues, the state of DNA, RNA and expressed proteins. The «single-cell» sequencing method is gaining increasing popularity in modern biology a…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2022 · pp. 34–40
Koroleva E.I., Musaelyan A.A., Nazarov V.D., Lapin S.V., Vorobev S.L., Sharova O.L., Kozorezova E.S., Korablina I.M., Emanuel V.L., Orlov S.V.
Introduction. In 2013 The Cancer Genome Atlas research group divided the molecular aberrations in endometrial cancer into four subtypes: POLE mutations, microsatellite instability, copy-number low and copy-number high. These subtypes have different prognosis a…
ОБЗОР2022
Sergeeva E.Y., Fefelova Y.A., Bardezkaya Y.V.
Personalized therapy allows to reveal subtypes of diseases with similar symptoms but various molecular mechanisms of development. Different -omics (genomics, epigenomics, transcriptomics, proteomics ets) are used to divide the diseases into subtypes. Transcrip…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2021
Ivanova А.А., Melnikova E.S., Gurazheva A.A., Malutina S.K., Rodina I.A., Khamovich O.V., Novoselov V.P., Maksimov V.N.
Introduction. Single nucleotide polymorphisms rs34643859 of the KCNS1 gene, rs12804550 of the SCN4B gene, and rs4514993 of the SCN11A gene were revealed in the analysis of the results of whole exome sequencing of a group of young man died by sudden cardiac dea…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2020
Voropaev E.V., Baranov O.Yu., Valentovich L.N., Osipkina O.V., Zyatkov A.A., Bonda N.A., Voropaeva A.V., Platoshkin E.N., Mizura V.M., Shaforost A.S.
Introduction. The use of genomic approaches allows a detailed studying of the pathogenetic potential of H. pylori bacteria. The aim of the study. To investigate the genome structural and functional organization of the H. pylori isolated in the Republic of Bela…
ОБЗОР2019
Surkova E.I., Chumakova O.S., Nikitin A.G., Toropovskiy A.N.
Cardiomyopathies are diseases that affect the heart muscle. They are characterized by myocardial dysfunction in the absence or low severity of common cardiovascular diseases, such as coronary atherosclerosis, hypertension, valvular heart diseases. Cardiomyopat…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2019
Musaelyan A.A., Chistyakov I.V., Nazarov V.D., Lapin S.V., Sogoyan M.V., Khalchitsky S.E., Emanuel W.L., Lobachevskaya T.W., Akopov A.L.
Background. Genotyping of the tumor samples is necessary for a personalized approach in the treatment of patients with malignancies. The identification of somatic mutations in EGFR and KRAS genes can help to predict the course of the disease and to individuali…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2018
Muzaffarova T.A., Mansorunov D.J., Sachkov I.Y., Kuzevanova A.Y., Karpukhin A.V., Alimov A.A.
Introduction. The origin of the genetic predisposition to family adenomatous polyposis is associated with functional disorders of the repair system. The molecular mechanism of this phenomenon is not sufficiently studied and need clarification. The aim of the s…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2018
Bakhareva Yu.S., Maksimov V.N., Ivanova A.A., Chapaeva N.N.
Introduction. New technologies of DNA genotyping and sequencing contribute to the rapid accumulation of our knowledge about human genomic variations and search for inherited determinants of complex genetic traits. There is a large amount of data on association…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2018
Ivanova А.А., Maksimov V.N., Malutina S.K., Kolesnik K.N., Aleshkina A.V., Savchenko S.V., Novoselov V.P., Voevoda М.I.
The aim of the study is an investigation of the association between mutations A1744S of MYH7, 9928_9929insE of TTN, T171M of CACNA1C, A189T of JPH2, S434Y of VCL, H4552R of RYR2, Y1495X of SCN5A and the sudden cardiac death (SCD). Investigating mutations were …
ОБЗОР2017
Saakyan S.V., Tsygankov A.Iu., Amiryan A.G., Loginov V.I.
Uveal melanoma (UM) is a rare, aggressive intraocular malignant tumor, leading to metastatic disease in more than 50% of patients. Cytogenetic and molecular studies have identified some genetic prognostic factors considered to be reliable to forecast the survi…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2017
Kiselev V.I., Radzinsky V.E., Shalaev O.N., Eseneeva F.M., Poloznikov A.A., Babkina I.O., Salimova L.Y., Karibova S.I.
Introduction authors made an attempt to demonstrate the role of DNA-methylation in pathogenesis of uterine fibroids. The epigenetic aspects based on personal investigations and literary data have been reviewed. The research underlined a perspective of investig…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2017
Vodolazhsky D.I., Dvadnenko K.V., Timoshkina N.N., Abramova N.A., Maksimov A.Yu., Vladimirova L.Yu.
Introduction. Irinotekan is widely used in the treatment of oncological diseases and allows to achieve the objective answer in 35–70% of cases depending on the applied schedule of the treatment. Individual toxicity of a preparation for patients is determined b…
ОРИГИНАЛЬНОЕ ИССЛЕДОВАНИЕ2017
Surkov A.N., Baranov A.A., Namazova-Baranova L.S., Savostyanov K.V., Pushkov A.A., Zhurkova N.V., Kustova O.V., Potapov A.S., Movsisyan G.B., Gevorkyan A.K., Volynets G.V., Skvortsova T.A.
Introduction. Glycogen storage disease (GSD) type Ib is caused by mutations in the SLC37A4 gene. The aim of the study. To verify the diagnosis by molecular genetic studies. Patient. Child at the age of 5 years and 8 months with severe hepatomegaly, nephromegal…