A5018637951- Cell Adhesion Molecules Research
- RNA Research and Splicing
- Protein Tyrosine Phosphatases
- Hereditary Neurological Disorders
- Galectins and Cancer Biology
- Medical and Biological Sciences
- Chemical synthesis and pharmacological studies
- Synthesis and Reactivity of Heterocycles
- RNA modifications and cancer
- Antimicrobial agents and applications
- Digestive system and related health
- Synthesis and Characterization of Pyrroles
- Immune Response and Inflammation
- S100 Proteins and Annexins
- Cytokine Signaling Pathways and Interactions
- Cardiomyopathy and Myosin Studies
- Probiotics and Fermented Foods
- Bone and Dental Protein Studies
- Connective tissue disorders research
- Lung Cancer Diagnosis and Treatment
- Nicotinic Acetylcholine Receptors Study
- IgG4-Related and Inflammatory Diseases
- Medicinal plant effects and applications
- Cancer-related molecular mechanisms research
- Marine Biology and Environmental Chemistry
Research Centre for Medical Genetics
2019-2024
Peoples' Friendship University of Russia
2007-2023
Lomonosov Moscow State University
2013-2021
Volgograd State Medical University
2007
D. Mendeleyev University of Chemical Technology of Russia
2007
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...
A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy.The proband was analyzed with WES NGS, post-mortem, using dried blood spots on filters. The verified Sanger sequencing for and her parents.We reported a mutation, c.3781del (p.(Trp1261GlyfsTer29)), gene. clinical presentation similar phenotype described previous studies.In this study, we case mutation causing of cardiomyopathy.
GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it most common distal in several countries due to founder effect of some pathogenic variants gene. We collected largest cohort patients with GNEM from Russia and analyzed their mutational spectrum clinical data. In our cohort, 10 novel were found, including 2 frameshift large deletions. One missense variant c.169_170delGCinsTT (p.(Ala57Phe)) was detected 4 families homozygous state 3 unrelated compound heterozygous...
The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a and genetic analysis individual nosological variants, which will contribute improving our understanding pathogenetic mechanisms prognosis. We presented characteristics 60 Russian pediatric patients with type II collagenopathies caused by previously described newly identified variants COL2A1 gene. Diagnosis confirmation was carried out new generation sequencing...
Noonan syndrome is a group of diseases with similar clinical picture, consisting 16 caused by mutations in 15 genes. According to the literature, approximately half all cases are attributed type 1, NSML, PTPN11 gene. We analyzed 456 unrelated probands using gene panel NGS, and 206 cases, cause disease was identified. Approximately (107) were variants gene, including three previously undescribed variants, one which classified as VOUS, other two LP causative complex alleles. Frequent...
Multiple epiphyseal dysplasias (MED) are a clinically and genetically heterogeneous group of skeletal with predominant lesion in the epiphyses tubular bones. Variants SLC26A2 gene cause their autosomal recessive form (rMED or MED type 4). The accumulation data regarding genotype−phenotype correlation can help diagnosis proper management these patients. aim this study was to survey clinical genetic characteristics 55 patients 4 caused by variants gene. Diagnosis confirmation carried out...
Autosomal dominant hearing loss is represented by a large number of genetically determined forms. Over 50 genes associated with nonsyndromic impairments were described. Pathogenic variants in the CEACAM16 gene lead to development DFNA4B loss. Currently, 8 pathogenic this have been The objective study was audiological and molecular genetic characteristics family CEACAM16-associated autosomal A detailed anamnesis collected, comprehensive examination performed for 21 members. Genetic testing...
Cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) are hereditary lung diseases. is a monogenic disease, while PCD has genetically heterogeneous nature 2 times less common than CF. More 50 genes responsible for PCD, one of them being the DNAAF11 gene ( LRRC6 according to previous nomenclature) – assembly factor external internal dynein arms. When mutation present, components arms remain in cytoplasm cells. The aim present clinical case newly diagnosed 44-year-old woman with homozygous...
Hypomyelinating leukodystrophies (HL) is a group of genetically heterogeneous neurodegenerative disorders characterized by lack brain myelin deposition. One the most common autosomal recessive HL type 7 caused mutations in POLR3A gene. We reported first clinical case Russian patient with 7.Proband 7‑year‑old 7. The diagnosis was confirmed genealogy, neurological examination, magnetic resonance imaging and molecular genetic testing. Two compound‑heterozygous variants gene were revealed...
Adequate interaction between macroorganism and microbiota underlies the correct metabolism, growth development of а human. The microbiome is a collection microorganisms that closely related to human body has comprehensive impact on its health function. Additional administration probiotics can assist targeted correction metabolic disorders, inflammation, immune response, resistance adverse factors. At same time, it must be considered effectiveness depend selected strain microorganism, form,...
Melatonin is an indoleamine that secreted not only in the pineal gland, but also other organs, particular salivary glands. Numerous studies show melatonin levels saliva and serum of patients suffering from periodontal disease are reduced, suggesting it may play important role protecting tissues damage caused by oxidative stress. helps regulate immune response prevents tissue damage. The inclusion treatment regimen increases its effectiveness. Further research needed to determine optimal...
This article presents the first case of VEXAS syndrome identified in Russian Federation as well characteristics currently known clinical manifestations and treatment approaches. The observation described is an impressive example how identification a new pathogenic mutation can change understanding classification, diagnosis previously immunoinflammatory diseases. Thus, refractory forms relapsing polychondritis, neutrophilic dermatosis, atypical vasculitis, inflammatory joint diseases or...
TRPV4 ‑associated neuromuscular diseases represent a clinical spectrum of neuropathies and motor neuron disorders. To date, 3 phenotypic forms are distinguished. There Charcot–Marie–Tooth disease type 2C, distal hereditary neuropathy 8 (DHMN8), scapulo‑peroneal spinal muscular atrophy (SPSMA). Here we report families with DNMN8 one family SPSMA. In all cases, DNA‑analysis revealed single nucleotide variants in the gene previously reported as pathogenic. probands, combination signs both...
The synthesis and pharmacological properties of a series aroylmethyl derivatives tricyclic benzimidazole systems containing hydroxy groups in aroyl radical are described. It is established that most the synthesized compounds exhibit high antioxidant activity, possess pronounced hemorheological properties, influence blood glucose level.
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