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Genetics

First report on a 20qh+ heteromorphism characterized by molecular cytogenetics as amplification of D20Z1 sequences

Volume 5, Issue №1, 2019
Background: Chromosomal heteromorphisms (CHMs) in human are still understudied. This is partially due to the fact that heterochromatic regions are not well documented in human ...

Molecular cytogenetic study of preterm infants: genomic anomalies detection

Volume 5, Issue №1, 2019
Background: The intensive implementation of molecular cytogenetic technologies into medical practice has made it possible to detect genomic rearrangements with previously unavailable resolution (molecular karyotyping), ...

Using the method of Multifactor Dimensionality Reduction (MDR) and its modifications for analysis of gene-gene and gene-environment interactions in genetic-epidemiological studies (review)

Volume 5, Issue №1, 2019
Background: In the genetic and epidemiological study of multifactorial signs (diseases), an important task is to assess the genetic and genetic-environmental interactions associated with the ...

Association of the ITGB3 gene T1565C polymorphism with the development of atherosclerosis and in-stent restenosis in patients with stable coronary artery disease

Volume 4, Issue №4, 2018
Background: Today, percutaneous coronary intervention (PCI) is the most effective treatment of coronary artery disease (CAD). Despite all technical advances in stent designs and techniques, in-stent restenosis (ISR) remains ...

Population genetic characteristics and genetic epidemiological research of candidate genes associations with multifactorial diseases

Volume 4, Issue №4, 2018
Background: When studying associations of candidate genes with multifactorial diseases, the formation of samples for research is important. One of the factors that should be considered in the formation ...

EXPRESSION OF TOLL-LIKE RECEPTORS IN THE FEMALE REPRODUCTIVE TRACT AND ITS HORMONE REGULATION (REVIEW)

Volume 4, Issue №3, 2018
Background: Toll-like receptors (TLR) are the main receptors of the innate immune system, recognizing ligands of bacteria, viruses, fungi and protozoa ...

MOLECULAR-GENETIC DETERMINANTS OF INFERTILITY IN GENITAL ENDOMETRYOSIS

Volume 4, Issue №3, 2018
Background: Genital endometriosis is an urgent problem of modern medicine. It is one of the hard-to-explain diseases and is the cause of reproductive health disorders, a decline in the ...

MOLECULAR AND GENETIC CHARACTERISTICS OF PATIENTS WITH HYPERPLASIA AND ENDOMETRIC POLYPS

Volume 4, Issue №2, 2018
Background. Hyperplastic processes of the endometrium (GGE) are among the most frequent gynecological diseases, leading to a loss of reproductive function and a decrease in the quality of life ...

SELECTION OF POLYMORPHIC LOCI FOR ASSOCIATION ANALYSIS IN GENETIC-EPIDEMIOLOGICAL STUDIES

Volume 4, Issue №2, 2018
Background. The study of the role of hereditary factors in the formation of multifactorial signs is relevant, and in relation to multifactorial diseases, these studies are important for ...

THE ROLE OF POLYMORPHISMS OF GLUTAMATE-CYSTEINE LIGASE IN TYPE 2 DIABETES MELLITUS SUSCEPTIBILITY IN KURSK POPULATION

Volume 4, Issue №1, 2018
Relevance. Glutamate-cysteine ligase (GCL) is the first enzyme of the glutathione cycle, intra- and extracellular antioxidant, whose impaired metabolism plays an important role in type 2 diabetes (T2D) pathogenesis. ...

THE INVOLVEMENT OF GENES OF MATRIX METALLOPROTEINASES IN THE DEVELOPMENT OF ARTEIAL HYPERTENSION AND ITS COMPLICATION (REVIEW)

Volume 4, Issue №1, 2018
Cardiovascular diseases are the leading cause of death and disability in Russia and in the world, and hypertension is considered to be an independent predisposing factor in such ...
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