Research Results in Biomedicine

Mohammed Abdulazeez, Stefanie Kankel, Thomas Liehr

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**

Volodymyr Dvornyk

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 ...

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

Iuliia E. Azarova

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 ...

The association study of polymorphic variants of hypothalamic-pituitary-adrenal system genes (AVPR1B, OXTR) and aggressive behavior manifestation: a focus on social environment

Anastasiya V. Kazantseva, Julia D. Davydova, Renata F. Enikeeva, Rinat G. Valinurov, Anna E. Gareeva, Natalya N. Khusnutdinova, Elza K. Khusnutdinova

Background: Aggressive behavior (AB) represents an important social problem, which results in significant costs for the society. A significant role in developing aggression is suggested to be mediated ...

**Influence of some risk factors and rs1799930 polymorphism of the NAT2-590 G>A gene on the development of chronic pancreatitis**

Tatyana A. Samgina

Background: Genetic and environmental factors are involved in the development of chronic pancreatitis. The aim of the study: To determine the influence of some risk factors and polymorphism ...

Association of VEGFA, factor V and prothrombin gene polymorphisms with early pregnancy loss

Abdulbary A.M. Ahmed, Madina M. Azova

Background: Many studies conducted to assess the associations between the gene polymorphisms of factor V, prothrombin, and vascular endothelial growth factor gene A and recurrent early pregnancy loss ...

**Association of polymorphism of genes STAT3, IL10 and IL12B with a viral load in women with human papillomavirus**

Abbas H.H. AlBosal

Background: HPV infection leads to an imbalance of pro- and anti-inflammatory cytokines, which contributes to the long-term persistence of the virus in infected cells. The aim of the ...

Polymorphism of genes associated with the age at menarche and the risk of complications of pregnancy in women in the Central Black Earth Region of Russia

Evgeny A. Reshetnikov

Background: The most common complications of pregnancy associated with metabolic and hemodynamic disorders in the mother-placenta-fetus system are placental insufficiency and preeclampsia. Preeclampsia is one of the leading ...

First molecular cytogenetic characterization of the MMT 060562 murine breast cancer cell line

Shaymaa Azawi, Lisa-Marie Barf, Thomas Liehr

Background: Murine cell lines are working horses applied as model systems in multiple research studies in many laboratories. Nonetheless, most of them are not well characterized at the ...

Associations of rs2305948 and rs1870377 polymorphic variants of the vascular endothelial growth factor receptor type 2 (KDR) gene with the risk of coronary heart disease

Maria V. Medvedeva

Background: According to statistics, the first place among the causes of death worldwide is occupied by cardiovascular diseases (CVD), of which a large proportion are cases of coronary ...

rs34845949 polymorphism of the SASH1 gene is associated with the risk of preeclampsia

Evgeny A. Reshetnikov

Background: Preeclampsia (PE) is a multisystem pathological condition that occurs in the second half of pregnancy (after the 20th week), characterized by arterial hypertension in combination with proteinuria ...

Bioinformatic tools and internet resources for functional annotation of polymorphic loci detected by genome wide association studies of multifactorial diseases (review)

Alexei V. Polonikov, Elena Yu. Klyosova, Iuliia E. Azarova

Background: Genome-wide association studies (GWAS) are a type of genetic research whose purpose is to analyze the associations between genomic variants and phenotypic traits in a population. Over ...

Features of gene control of blood pressure in patients with hypertensive disorders during pregnancy

Irina N. Fetisova, Anna I. Malyshkina, Irina A. Panova, Elena A. Rokotyanskaya, Nikolay S. Fetisov, Svetlana Y. Ratnikova

Background: Chronic arterial hypertension and preeclampsia are multifactorial pathologies, in the development of which many groups of genes are involved in combination with negative environmental influence. The aim ...

**An association study of three polymorphisms in the glutathione synthase (GSS) gene with the risk of ischemic stroke**

Julia A. Bocharova

Background: It is well known that gene polymorphisms of antioxidant defense enzymes contribute to the ischemic stroke (IS) predisposition and affect the severity of its manifestations. The aim ...

**Allele distribution and haploblock structure of matrix metalloproteinase gene polymorphism in patients with H. pylori-negative gastric ulcer and duodenal ulcer**

Oksana N. Minyaylo

Background: One of the important tasks is to study the molecular genetic basis of gastric and duodenal ulcer. This pathology is quite widespread among the population and has an ...

Increased usage of Smartphones in Medicine, an opportunity for Medical Cytogenetics

Arlay C. López, Michel S. Torres, Nereida G. García, Ursulina S. Mayedo, Luis A. Méndez-Rosado

Background: The progressive availability at a worldwide scale of smartphones with bigger computing power and equipped with high quality cameras advertise a better usage for this equipment by ...

Single nucleotide polymorphisms in genes encoding xenobiotic metabolizing enzymes are associated with predisposition to arterial hypertension

Olga Yu. Bushueva

Background: Arterial hypertension (AH) is the most common disease of the cardiovascular system. Intracellular chemical and oxidative stress, which can be associated both with direct exposure to toxic ...

Bioinformatic analysis of microduplications at 5p15.33: identification of TPPP as a candidate gene for autism and intellectual disability