A5056839973- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- Epigenetics and DNA Methylation
- Advanced Breast Cancer Therapies
- Renal and related cancers
- Biochemical and Molecular Research
- Retinal Development and Disorders
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Genetic factors in colorectal cancer
- Bone Tumor Diagnosis and Treatments
- Gene expression and cancer classification
- Receptor Mechanisms and Signaling
- Thyroid Cancer Diagnosis and Treatment
- Cancer-related Molecular Pathways
- Protein Kinase Regulation and GTPase Signaling
- Muscle Physiology and Disorders
- Genomics and Chromatin Dynamics
- melanin and skin pigmentation
- Ubiquitin and proteasome pathways
- Cancer-related molecular mechanisms research
- Developmental Biology and Gene Regulation
Genomed (Poland)
2020-2023
Research Centre for Medical Genetics
2015-2021
Russian Medical Academy of Continuous Professional Education
2021
Ural State Medical University
2021
Laboratory for Research on Enterprise and Decisions
2020
Ministry of Health of the Russian Federation
2020
Heterotrimeric G proteins are immediate transducers of protein-coupled receptors—the biggest receptor family in metazoans—and play innumerate functions health and disease. A set de novo point mutations GNAO1 GNAI1, the genes encoding α-subunits (Gαo Gαi1, respectively) heterotrimeric proteins, have been described to cause pediatric encephalopathies represented by epileptic seizures, movement disorders, developmental delay, intellectual disability, signs neurodegeneration. Among such...
Introduction Tumor resistance to chemotherapy and metastatic relapse account for more than 90% of cancer specific mortality. Tumor-associated macrophages (TAMs) can process chemotherapeutic agents impair their action. Little is known about the direct effects on TAMs. Methods The effect platinum agent cisplatin was assessed in model system human ex vivo Whole-transcriptome sequencing paired TAMs stimulated not by analysed NGS. Endocytic uptake EGF quantified flow cytometry. Confocal...
This study is aimed at investigating the clinical and genetic characteristics of 244 unrelated probands diagnosed with multiple osteochondromas (MO). The diagnosis MO typically involves identifying benign bone tumors known as (OCs) through imaging studies physical examinations. However, cases both OCs enchondromas (ECs) may indicate more rare condition metachondromatosis (MC), which assumed to be distinct disease. Previous cohort found heterozygous loss-of-function (LoF) variants only in...
Abstract Background Because of the significant occurrence “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases aniridia due to its help making an early WAGR syndrome. Standard cytogenetic karyotype study a necessary step molecular diagnostics patients with and patients’ parents as it reveals complex chromosomal rearrangements risk having another affected child, well provide prenatal and/or preimplantation...
We present the genetic profile of kidney giant leiomyosarcoma characterized by sequencing 409 cancer related genes and chromosomal microarray analysis. Renal leiomyosarcomas are extremely rare neoplasms with aggressive behavior poor survival prognosis. Most frequent somatic events in mutations TP53, RB1, ATRX, PTEN genes, instability (CIN) chromoanagenesis. 67-year-old woman presented a right completely replaced tumor. Immunohistochemical reaction on surgical material was positive to desmin...
Achromatopsia (ACHM) is a rare autosomal recessive disease. Its mutation spectrum well described in other populations, but the data on ACHM prevalence and features Russia are insufficient. Purpose . To describe clinically genetically Russian cohort of AHCM for potential use targeted treatment approaches, including gene therapy. Material methods Out 18 patients with clinical manifestations ACHM, 10 were chosen (6 no kinship relatedness 4 relatedness) aged 12.3 ± 5.8 years. These underwent...
Chromosomal aberrations in the product of conceptions (POC) are detected around 50% lost pregnancies. Karyotype analysis POC, limited by high failure rate culture, is not always carried out. The oligonucleotide-based chromosomal microarray (CMA) POC from 303 pregnancies was findings showed a diagnostic value test and its ability to detect large number clinically relevant rearrangements compared karyotype comparative genomic hybridization (CGH) arrays.
The aim of the study was to assess diagnostic potential SNP-based chromosomal microarray analysis for detecting pathogenic copies number variations (CNVs) in fetuses with a normal karyotype, which an increase nuchal translucence >2.5 mm detected by ultrasound at gestational age 11 weeks 13 6 days.The included 225 pregnant women who underwent invasive prenatal procedures following detection isolated thickening fetal fold. material obtained examined using cytogenetic test; if karyotype...
Abstract High-throughput sequencing of fetal DNA is a promising and increasingly common method for the discovery all (or coding) genetic variants in fetus, either as part prenatal screening or diagnosis, diagnosis spontaneous abortions. In many cases, (from chorionic villi, amniotic fluid, abortive tissue) can be contaminated with maternal cells, resulting mixture DNA. This cell contamination (MCC) undermines assumption, made by traditional variant callers, that each allele heterozygous site...
Coats disease (OMIM 300216) is a form of hereditary retinal dystrophy, which occurs due to congenital abnormality vessels and features unilateral exudative vitreoretinopathy. mostly sporadically; its genetic cause still undetermined. Molecular research including whole exome sequencing by the NGS method was used define observed phenotype. Two heterozygous variants in different genomic loci associated with other forms dystrophy were detected, rare variant HMCN1 gene c.9571C>T, p.(Arg3191Cys),...
Background. The association between the protocadherin-19 ( PCDH19 ) gene and epilepsy suggests that X-linked inherited form of its pathogenic variant affects only women. Recent data has described males with somatic mosaicism, whose clinical picture is similar to common manifestations in females. Objective: report on three new cases clustering male patients. Material methods. Clinical were collected from different centers through personal communication authors, which means structured cohort...
To paper describes a case of paucicellular anaplastic cancer in the presence tall cell variant papillary thyroid carcinoma. Microscopic examination showed that differentiated component tumor was composed structures with cells, height which exceeded 3-4 times width. Its consisted fibrous tissue occasional spindle-shaped cells and focal lymphocytic infiltration to extent 70%. The expressed cytokeratins, β-catenin, p53, vimentin. lymphocytes an association Epstein-Barr virus. Molecular genetic...
Introduction. The prevalence of congenital malformations (CMFs) in fetal central nervous system (CNS) ranges from 1.5 to 3 % and covers around 29 among all malformations, whereas percentage the structure perinatal infant mortality reaches 25–26 %. Aim: estimate frequency pathogenic copy number variations (CNVs) fetuses with CNS normal karyotyping cytogenetic analysis. Materials Methods. There were enrolled 42 pregnant women underwent invasive prenatal diagnostics 2013–2019 due ultrasound...
Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis glutaric acute life‑threatening condition that requires careful diagnosis with a number of other conditions and immediate initiation pathogenetic therapy. Materials methods. Clinical manifestations, neuroimaging characteristics were studied 46 patients diagnosed confirmed biochemical molecular genetic Methods: gas...