A5020958710- Pituitary Gland Disorders and Treatments
- BRCA gene mutations in cancer
- Genetic factors in colorectal cancer
- RNA modifications and cancer
- Nutrition, Genetics, and Disease
- Colorectal Cancer Treatments and Studies
- Growth Hormone and Insulin-like Growth Factors
- Cancer Genomics and Diagnostics
- Cancer-related molecular mechanisms research
- Cancer, Lipids, and Metabolism
- PARP inhibition in cancer therapy
- Glycogen Storage Diseases and Myoclonus
- Adipokines, Inflammation, and Metabolic Diseases
- Radiomics and Machine Learning in Medical Imaging
- Moyamoya disease diagnosis and treatment
- Cardiovascular Health and Risk Factors
- Lung Cancer Treatments and Mutations
- Cardiomyopathy and Myosin Studies
- Hormonal Regulation and Hypertension
- Inflammation biomarkers and pathways
- Diet, Metabolism, and Disease
- Genetic Associations and Epidemiology
- Atherosclerosis and Cardiovascular Diseases
- Lipoproteins and Cardiovascular Health
- Inflammasome and immune disorders
State Research Institute of Highly Pure Biopreparations
2015-2024
Federal Medical-Biological Agency
2014-2023
Medical Technologies (Czechia)
2017-2023
Scientific Center of Children's Health
2014-2019
Ministry of Health of the Russian Federation
2019
Center for Children
2017-2018
Clinical Hospital No. 8
2015-2018
City Clinical Hospital
2016
Central State Medical Academy
2016
Genetika
2010
Abstract Previous phase I studies demonstrated safety and some beneficial effects of mesenchymal stem cells (MSCs) in patients with mild to moderate idiopathic pulmonary fibrosis (IPF). The aim our study was evaluate the safety, tolerability, efficacy a high cumulative dose bone marrow MSCs rapid progressive course severe IPF. Twenty forced ventilation capacity (FVC) ≥40% diffusing lung for carbon monoxide (DLCO) ≥20% decline both >10% over previous 12 months were randomized into two...
Obesity is a high-risk factor for such comorbidities as cardiovascular disease, several types of cancer, and type 2 diabetes; however not all obese people have complications. Approximately 20% patients are metabolically healthy. This study focused on differences between individuals with without diabetes (T2D+ T2D-, respectively) the transcriptome level. Subjects included were 35 T2D- T2D+ same body mass index. The was based transcription analysis mRNA microRNAs (miRs) by RNAseq. In first...
Corticotropinomas and adrenocorticotropic hormone (ACTH)-secreting neuroendocrine tumors exhibit differential levels of some microRNAs (miRs) compared to normal tissue. Because miRs can be released from tissues into circulation, they offer promise as novel disease biomarkers. Objective: To evaluate whether are differentially detected in plasma samples patients with ACTH-dependent Cushing's syndrome (CS) Design: Case-control study Methods: Morning fasting were collected 41 consecutive...
Abstract: This study determined the genotype effects of interleukin (IL)-6/IL-6R single nucleotide polymorphisms (SNPs) on circulating levels different cytokines in healthy and coronary artery disease (CAD) patients with allele frequencies. In control patients, rs1800795 showed significant differences IL-18 concentrations between CC CG GG genotypes ( P =0.003 0.004, respectively). Furthermore, circulatory IL-1β was significantly GC from same SNP =0.038). diseased significance only for IL-2...
Objective To evaluate the response of bone to chronic long-term growth hormone (GH) and insulin-like factor-1 (IGF1) excess by measuring expression selected mRNA microRNA (miR) in tissue samples patients with active acromegaly. Design Case–control study. Methods Bone were obtained during transsphenoidal adenomectomy from sphenoid (sella turcica) 14 clinically biochemically confirmed acromegaly 10 non-functioning pituitary adenoma (NFPA) matched sex age. Expression genes involved regulation...
The Russian population consists of more than 100 ethnic groups, presenting a unique opportunity for the identification hereditary pathogenic mutations. To gain insight into landscape heredity variants, we employed targeted next-generation sequencing to analyze germline mutation load in DNA damage response and repair genes breast ovary cancer syndrome (HBOCS) patients Tatar ethnicity, which represents ~4% total population. Several mutations were identified double-strand break genes, spectrum...
Background: Immune mechanisms recently emerged as important contributors to migraine pathology with cytokines affecting neuronal excitation. Therefore, elucidating the profile of activated in various forms migraine, including those a known genetic cause, can help diagnostic and therapeutic approaches. Methods: Here we (i) performed exome sequencing identify causal gene mutation (ii) measured, using Bio-Plex technology, 22 serum patients familial (two hemiplegic two aura) from Russian family...
Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it associated with fatal complications. The clinical heterogeneity HCM requires risk prediction models to identify patients at a high adverse events. Most cases are caused by mutations in genes encoding sarcomere proteins. However, rare genetic variants limited data about its course prognosis, existing not validated for such patients' cohorts. TRIM63 recently described as cause autosomal-recessive...
Background: Cardiomyopathies in children are serious, continuously progressing myocardium diseases which characterized by a variety of the causes, symptoms, implications, and high lethality. More than 400 genes that can cause hereditary heart vessels described scientific literature. The application high-performance method massive parallel sequencing allows to conduct investigation genome extended targeted areas revealing variants analyzing them (bioinformatics) for pathogenicity.Aims:...
The present study investigated the influence of IL-18/18R genetic variants on cytokine expression in patients with stable coronary artery disease (CAD).The polymorphisms rs1946518, rs187238, rs326, rs1169288, and rs183130 were determined without CAD. Circulating levels measured immunologically.The rs1946518-GG genotype shows higher IL-18 concentration group CAD, but still not significant. TG from rs1946518 carriers CAD showed a significant decrease relation to pro-inflammatory cytokines...
BACKGROUND: MEN-1 is a rare autosomal dominant disease caused by mutations in MEN1 gene encoding the menin protein. This syndrome characterized occurrence of parathyroid tumors, gastroenteropancreatic neuroendocrine pituitary adenomas, as well other endocrine and non-endocrine tumors. If patient with phenotype carry no gene, condition considers phenocopy (phMEN1). The possible cause this changes could be epigenetic regulation, particularly microRNA expression that might affect signaling...
Pachydermoperiostosis (PHO) or primary hypertrophic osteoarthropathy is a rare genetic disease that typically begins during childhood adolescence. It characterized by digital clubbing, pachydermia and periosteal reaction progresses gradually over the years prior to stabilization. Two genes are reported be associated with PHO – HPGD SLCO2A1. These involved in prostaglandin E2 metabolism.
 We present description of 19-year-old patient PHO. found two mutations SLCO2A1 gene: p.Gly183Ar...
Abstract Context Excessive production of growth hormone causes marked multiorgan changes in patients with acromegaly, which may involve epigenetic mechanisms. Objective To evaluate differences circulating microRNAs (miRNAs) associated chronic overproduction adults. Design and Setting A cross-sectional case-control study was conducted at a tertiary medical center. Participants We enrolled 12 consecutive acromegaly along age- sex-matched controls the discovery phase then extended this cohort...
The article describes the monitoring of severe cryopyrin-associated syndrome (syndrome CINCA/NOMID). following clinical case indicates successful application homogeneous antibodies to interleukin 1 — canakinumab in patient with chronic neurologic dermatic articular syndrome. Fever, rush and pain completely jugulated, contractures articulation joints decreased a week since beginning treatment. In 8 weeks therapy movements affected almost restored, boy could stay, spell simple words;...
Background: the development of hereditary cancer syndromes is caused by genetic disorders in DNA repair system, which consists more than 100 genes. However, at present, majority medical centers Russia, diagnosis OC and BC to determine most frequent mutations (8 points) BRCA1 BRCA2 genes using PCR methods. Thus given are for Slavic population while other populations Russia they occur less often or do not all.
 Aims: reveal landscape pathogenic variants reparation system develop methods...
Background. Cystic fibrosis is a hereditary disease that occurs as result of mutations in the regulator gene chloride ion transmembrane transport (CFTR). Finding CFTR necessary for identification clinical features cystic fibrosis. Objective. Our aim was to identify genotype-phenotype correlations between first class pathogenicity and manifestations based on studying prevalence structure mutations. Methods. The study included children under 18 years with admitted hospital 2013 2017. Biallelic...