Maria M Danilova

• Master of Biology
• Research Institute of Obstetrics and Gynecology named after D.O. Ott

Background Difficulties in the biobank progress are often associated with insufficient public awareness, but it is also worth paying attention to healthcare and science professionals who play an important role in the development of this area. This article presents results of the research on awareness toward biobanking and motivation to collaborate...

Background Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene. Case presentation This article presents a clinical case of preimplantation genetic testing for monogenic disorders (PGT-M) conducted for a family with two previ...

Type 2 diabetes (T2D) is a chronic metabolic disorder marked by insulin resistance and relative insulin deficiency, affecting over 422 million people globally and projected to increase, making it a major public health concern. This condition is associated with severe complications such as retinopathy, nephropathy, cardiovascular diseases, and neuro...

Background 21-hydroxylase deficiency is present in 90–95% of cases of congenital adrenal hyperplasia (CAH). Eleven major pathogenic variants account for 93% of all identified variants in the CYP21A2 gene in various clinical forms of the disease. Each population has its own range of significant pathogenic variants. We aimed to study the frequency of...

Ganglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal storage disorder caused by mutations in the GLB1 gene that lead to the absence or insufficiency of β-galactosidase. In this study, we report a case of a Russian family with a history of GM1 gangl...

Type 2 diabetes mellitus (T2D) is a chronic metabolic disease characterized by insulin resistance and β-cell dysfunction and leading to many micro- and macrovascular complications. In this study we analyzed the circulating miRNA expression profiles in plasma samples from 44 patients with T2D and 22 healthy individuals using next generation sequenci...

Currently, one of the most promising areas of medicine is the development and implementation of new biomedical technologies in the field of human reproduction with the involvement of resources of biobanks and biocollections as well as modern genetic technologies. In this review, we considered the key dimensions of personalized medicine, such as bio...

The diving reflex is an oxygen-saving mechanism which is accompanied by apnea, reflex bradycardia development, peripheral vasoconstriction, spleen erythrocyte release, and selective redistribution of blood flow to the organs most vulnerable to lack of oxygen, such as the brain, heart, and lungs. However, this is a poorly studied form of hypoxia, wi...

Metformin is an oral hypoglycemic agent widely used in clinical practice for treatment of patients with type 2 diabetes mellitus (T2DM). The wide interindividual variability of response to metformin therapy was shown, and recently the impact of several genetic variants was reported. To assess the independent and combined effect of the genetic polym...

Type 2 diabetes (T2D) is a common chronic disease whose etiology is known to have a strong genetic component. Standard genetic approaches, although allowing for the detection of a number of gene variants associated with the disease as well as differentially expressed genes, cannot fully explain the hereditary factor in T2D. The explosive growth in...

Type 2 diabetes mellitus (T2DM) is a metabolic disorder that currently affects more than 400 million worldwide and is projected to cause 552 million cases by the year 2030. Long-term vascular complications, such as coronary artery disease, myocardial infarction, stroke, are the leading causes of morbidity and mortality among diabetic patients. The...

Objectives In March 2020, the World Health Organization declared that an infectious respiratory disease caused by a new severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2, causing coronavirus disease 2019 (COVID-19)] became a pandemic. In our study, we have analyzed a large publicly available dataset, the Genome Aggregation Database (gnomA...

Objectives: In March 2020, the World Health Organization declared that an infectious respiratory disease caused by a new severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2, causing coronavirus disease 2019 (COVID-19)] became a pandemic. In our study, we have analyzed a large publicly available dataset, the Genome Aggregation Database (gnom...

Type 2 diabetes mellitus (T2D) is a chronic metabolic disease resulting from insulin resistance and progressively reduced insulin secretion, which leads to impaired glucose utilization, dyslipidemia and hyperinsulinemia and progressive pancreatic beta cell dysfunction. The incidence of type 2 diabetes mellitus is increasing worldwide and nowadays T...

Here, we determined basic differentially expressed genes in endometrial lesions compared to eutopic endometrium of the patients with endometriosis (EM). Endometrial biopsy and tissue sampling were performed in ten women with pelvic EM and nine controls at their mid-secretory phase. NGS of mRNA combined with bioinformatic analysis and complemented b...

Background: Preeclampsia (PE) is the most common complication of pregnancy that remains to be a major cause of maternal and fetal mortality. Prediction and early diagnosis of PE would allow for timely initiation of preventive therapy. According to recent studies of ACVR2A gene polymorphism is associated with PE, but it is still unclear whether thes...

Analysis of variations in DNA structure using a low-density microarray technology for routine diagnostic in evidence-based medicine is still relevant. In this work the applicability of 3-D macroporous monolithic methacrylate-based platforms for detection of different pathogenic genomic substitutions was studied. The detection of nucleotide replacem...

Analysis of ABCB4 gene in young women with cholelithiasis and relative story of gallstone disease was performed by NGS sequencing. The discovered “risk alleles” of this gene and their adverse haplotypes testify to ABCB4 participation in the development of cholelithiasis.

Polymorphisms of APOE (E2/E3/E4), LPL (1595C>G) and NOS3 (-786T>C) in groups of pregnant women with and without preeclampsia, in donors, in children with hypertension, children with obesity and metabolic syndrome, and in control children were studied by PCR /RF LP analysis. Statistically significant increase of T/C genotype frequency of NOS3 in pre...