Ziravard Tonyan

• 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: Being strongly affected by maternal and fetal genetic factors, intrauterine environment plays a critical role in fetal growth. Intrauterine conditions, in turn, are largely determined by the genetic factors. AIM: The aim of this study was to evaluate the effect of the IGF1R rs907806 and GHSR rs572169 genetic variants on the weight of ne...

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...

Patterns of meiotic chromosome segregation were analyzed in cleavage stage and blastocyst stage human embryos from couples with autosomal reciprocal translocations (ART). The influence of quadrivalent asymmetry degree, the presence of terminal breakpoints, and the involvement of acrocentric chromosomes in the rearrangement were analyzed to evaluate...

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...

The paper presents the results of the preimplantation genetic testing for a couple in which both spouses are carriers of balanced autosomal translocations. The chromosome segregation pattern and individual characteristics of quadrivalents for both rearrangements were determined, and the risk of reproductive problems in a offspring who inherited a m...

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...

Autosomal reciprocal translocations (ARTs) represent equal exchange of chromatin fragments between non-homologous chromosomes. During the first meiotic division chromosomes participated in translocation form a special structure called quadrivalent. It was shown that universal characteristics of the quadrivalent such as the length of translocated an...

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...

Robertsonian translocations (RTs) are very common balanced structural chromosome rearrangements in humans. Due to alterations in the chromosome segregation pattern and the formation of unbalanced gametes and embryos, the carriers of RTs have a significant risk of reproductive failure. For over 30 years, fluorescent in situ hybridization (FISH) has...

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...

Satellite DNA, whose monomers form long arrays of tandem repeat ranging from hundreds or thousands of copies to several million base pairs, makes up at least 10% of the human genome. Application of new methods of sequencing and bioinformatics analysis opens the way to investigate the organization and functioning of human satellite DNA and contribut...

Introduction Y-autosome translocations occur in approximately 1:2000 in population and represent special group of reciprocal exchanges. Due to a balanced nature they do not influence on phenotype in general. However, Y-autosome translocation can dislocate sex bivalent formation and chromosome synapsis in the first meiotic division prophase that led...

The article describes the results of preimplantation genetic testing and IVF outcomes in four families , where one of the spouses is a carrier of Y/15 or Y/22 derivative chromosome: three cases of male carriers and one-of a female carrier. In the cases of male carriers, we detected the predominant inheritance of the derivative chromosomes by the em...

26.04.2019 г. После доработки 17.05.2019 г. Принята к публикации 09.07.2019 г. Представлены результаты преимплантационного генетического тестирования и исходы экстракор-порального оплодотворения (ЭКО) в четырех семьях, где один из супругов является носителем Y/15 или Y/22 дериватной аутосомы: три случая носительства супругом и один-супругой. Показа...