16+

Genetics

Association of the rs10508336 polymorphism of the TAF3 transcription factor gene with the risk of lower limb arterial disease in the Russian population
 

Volume 8, Issue №4, 2022
Background: Atherosclerosis obliterans (AO) and diabetic angiopathy (DA) are known to be peripheral artery diseases (PAD) of multifactorial origin, in which genetic and environmental factors play a ...

Molecular cytogenetic and cytopostgenomic analysis of the human genome
 

Volume 8, Issue №4, 2022
Background: Despite the achievements of human genomics, comprehensive genome analysis, including acquiring the knowledge about intercellular and interindividual variations at (sub)chromosomal/cytogenomic level, remains a difficult task. This basically ...

Knock-out of α-, β-, and γ-synuclein genes in mice leads to changes in the distribution of several lipids in the liver and blood plasma
 

Volume 8, Issue №4, 2022
Background: In addition to the role of synuclein proteins in synaptic transmission through binding with lipid membranes, the function of synucleins in reactions of the synthesis of lipids ...

Genetic variation of ERN1 and susceptibility to type 2 diabetes

Volume 8, Issue №3, 2022
Background: The endoribonuclease IRE1 (ERN1) is an important sensor for the endoplasmic reticulum unfolded protein response (UPR), and its activation happens as a result of the accumulation of ...

Genetic markers of severe preeclampsia

Volume 8, Issue №3, 2022
Background: In modern medicine, close attention is paid to the issues of reducing maternal morbidity and mortality, to the structure of which hypertensive disorders of gestation, especially ...

Association of polymorphism rs10841855 in the glycogen synthase 2 gene with hypercholesterolemia and type 2 diabetes mellitus

Volume 8, Issue №2, 2022
Background: Glycogen synthase 2 (GYS2) catalyzes a key step in glycogenesis in the liver. Loss-of-function mutations in the GYS2 gene are associated with type 0a glycogenosis with characteristic ...

Epigenetic and genomic mechanisms in the pathogenesis of posttraumatic stress disorder (review)
 

Volume 8, Issue №1, 2022
Background: Posttraumatic stress disorder is one of the most prominent examples of gene-environment interactions. Psychological traumatization is a dominant, but not the only etiological factor. Over the ...

Studying the role of interlocus interactions of folate cycle genes and matrix metalloproteinases in the formation of fetal growth retardation
 

Volume 8, Issue №1, 2022
Background: Fetal growth retardation (FGR) is one of the most common pregnancy complications that can adversely affect the short- and long-term health of newborns. The search for ...

Ovarian cancer as part of hereditary cancer syndromes (review)

Volume 7, Issue №4, 2021
Background: Hereditary forms of ovarian cancer (OC) account for more than one fifth of cases of malignant neoplasms of this localization. The discovery of new molecular genetic ...

Essentially pure partial trisomy 6(p21.31-p25) (case report and literature review)

Volume 7, Issue №4, 2021
Background: In reviewed literature, several patients with duplication or partial trisomy of the 6p region have been described. Most of these cases are associated with a partial monosomy ...

Analysis of the level of population endogamia as the basis of population-genetic and medical-genetic studies

Volume 7, Issue №4, 2021
Background: When conducting population-genetic and genetic-epidemiological studies, the endogamy index should be taken into account to assess the level of the elementary population, characteristics of the migration ...
Page 1 of 5 | Next