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Genetics

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

The relationship between polymorphism rs12449964 of the phosphatidylethanolamine-N-methyltransferase gene and hypertriglyceridemia and obesity in patients with type 2 diabetes
 

Volume 7, Issue №3, 2021
Background: Phosphatidylethanolamine N-methyltransferase (PEMT) is the enzyme of lipid metabolism that catalyzes the conversion of phosphatidylethanolamine to phosphatidylcholine in a series of three methylation reactions. Low activity of ...

About the origin of the acrocentric part of non-acrocentric satellited chromosomes in humans
 

Volume 7, Issue №3, 2021
Background: Variants in size of the acrocentric short arms (acro-ps) are normally not reported and considered as chromosomal heteromorphisms (CHMs) without any influence on the carrier’s phenotype. However, ...

Integrated in-depth bioinformatic analysis suggests RELCH/KIAA1468, LINC02341, and AKAP11 as candidate genes for ages at menarche and menopause
 

Volume 7, Issue №3, 2021
Background: Polymorphisms of the TNFRSF11A and TNFSF11 genes were reported for their association with age at menarche (AAM) and age at natural menopause (ANM). However, the biological ...
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