A5011060097- COVID-19 Clinical Research Studies
- Pelvic floor disorders treatments
- Long-Term Effects of COVID-19
- Immunodeficiency and Autoimmune Disorders
- COVID-19 and healthcare impacts
- Diverticular Disease and Complications
- RNA modifications and cancer
- Spaceflight effects on biology
- Sepsis Diagnosis and Treatment
- Anorectal Disease Treatments and Outcomes
- Genetic Associations and Epidemiology
- Reproductive System and Pregnancy
- Genomics and Rare Diseases
- Pelvic and Acetabular Injuries
- Neonatal Respiratory Health Research
- Endometriosis Research and Treatment
- Cytomegalovirus and herpesvirus research
- Eosinophilic Esophagitis
- Pneumonia and Respiratory Infections
- Lymphoma Diagnosis and Treatment
- Parvovirus B19 Infection Studies
- Nosocomial Infections in ICU
- Cancer-related gene regulation
- Bioinformatics and Genomic Networks
- Polyomavirus and related diseases
Dmitry Rogachev National Research Center of Pediatric Hematology, Oncology and Immunology
2019-2024
Vavilov Institute of General Genetics
2014-2023
V.A. Negovsky Scientific Research Institute of General Reanimatology
2019-2023
Ministry of Health of the Russian Federation
2021-2022
Rare variants affecting host defense against pathogens may be involved in COVID-19 severity, but most rare are not expected to have a major impact on the course of COVID-19. We hypothesized that accumulation weak effects many functional throughout exome contribute overall risk patients with severe disease. This assumption is consistent omnigenic model relationship between genetic and phenotypic variation complex traits, according which association signals tend spread across genome through...
Oxidative stress may play a role in the recurrent miscarriage (RM) with no known etiology. This study was conducted to investigate association of polymorphisms oxidative stress-related genes idiopathic RM. A total 331 RM patients and 197 controls were genotyped for ABCB1 rs1045642, CYP1A1 rs1048943 rs4646903, COMT rs4680, CAT rs17880664, GCLC rs17883901, GPX4 rs713041, NRF2 rs6721961, SOD2 rs4880, OGG1 rs1052133. protective effect rs4680-G allele on shown individual SNP analysis: P = 0.0016,...
The aim of the study was to investigate serial changes in inflammatory indices derived from blood cell counts and C-reactive protein (CRP) levels COVID-19 patients with good poor outcomes. We retrospectively analyzed 169 patients. Comparative analyses were performed on first last days a hospital stay or death serially day 1 30 symptom onset. On admission, non-survivors had higher CRP lymphocytes ratio (CLR) multi-inflammatory index (MII) values than survivors, while at time discharge/death,...
Pelvic organ prolapse (POP) is a common highly disabling disorder with large hereditary component. It characterized by loss of pelvic floor support that leads to the herniation uterus in or outside vagina. Genome-wide linkage studies have shown an evidence POP association region 9q21 and six other loci European pedigrees. The aim our study was test above associations case-control Russian population. Twelve SNPs including cited those selected using RegulomeDB annotations for were genotyped...
COVID-19 patients with acute respiratory distress syndrome (ARDS) have an immune imbalance when systemic inflammation and dysfunction of circulating T B cells lead to a more severe disease. Using TREC/KREC analysis, we studied the level mature naive in peripheral blood its relationship clinical laboratory data. analysis was performed by multiplex real-time quantitative PCR on sample 36 aged 45 years or younger. The reduced observed ARDS compared non-ARDS patients, similar results were found...
The search for sensitive and specific markers enabling timely identification of patients with a life-threatening novel coronavirus infection (COVID-19) is important successful treatment. aim the study was to examine association molecular biomarkers air-blood barrier damage, surfactant proteins SP-A SP-D Club cell protein CC16, outcome COVID-19. Materials methods . A cohort 109 diagnosed COVID-19 retrospectively divided into two groups. Group 1 comprised survivor discharged from ICU (w=90). 2...
Pneumonia is a common and severe infectious lung disease. Host genetics, together with underlying medical lifestyle conditions, determine pneumonia susceptibility. We performed secondary analysis of the results two genome-wide studies for in 23andMe participants (40 600 cases/90 039 controls) (Tian et al., 2017) UK Biobank (BB) (12 614 cases/324 585 (via Global Engine) used GTEx database to correlate expression quantitative trait loci (eQTLs) data whole blood. In single nucleotide...
Abstract Dysregulation in cytokine production has been linked to the pathogenesis of various immune-mediated traits, which genetic variability contributes etiopathogenesis. GWA studies have identified many variants or near genes, nonetheless, translation these findings into knowledge functional determinants complex traits remains a fundamental challenge. In this study we aimed at collection, analysis and interpretation data on cytokines focused their tissue-specific expression, eQTLs GWAS...
Pneumonia is an acute infectious disease with high morbidity and mortality rates. Pneumonia's development, severity outcome depend on age, comorbidities the host immune response. In this study, we combined theoretical experimental investigations to characterize pneumonia its as well assess response measured by TREC/KREC levels in patients pneumonia. The study was carried out using Columbia Open Health Data (COHD) resource, which provides access clinical concept prevalence co-occurrence from...
The development of severe COVID-19, which is a complex multisystem disease, thought to be associated with many genes whose action modulated by numerous environmental and genetic factors. In this study, we focused on the ideas omnigenic model heritability traits, assumes that small number core large pool peripheral expressed in disease-relevant tissues contribute genetics traits through interconnected networks. We hypothesized primary immunodeficiency disease (PID) may considered as their...
Diamond-Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by erythroid aplasia. Pathogenic variants in ribosomal protein (RP) genes, GATA1, TSR2, and EPO, are considered to be the etiology of DBA. Variants 5'-untranslated regions (UTRs) these genes poorly studied can complicate variant interpretation. We investigated functional consequences NM_001011.4:c.-19 + 1G > T donor splice-site RPS7 5'-UTR. This was found a family where two sons with DBA were carriers....
Cutaneous T-cell lymphomas are a heterogeneous group of lymphoproliferative diseases affecting the skin. Mycosis fungoides and Sezary syndrome most studied variants them. The literature review includes latest published data on pathological processes development in mycosis diagnosis these diseases. genomic instability features cutaneous described, existing hypotheses origin considered based results receptor repertoire studying.
This study presents the clinical and laboratory data of 50 patients with ataxia-telangioectasia syndrome (AT) (Louis-Bar syndrome) treated at Dmitry Rogachev National Medical Research Center Pediatric Hematology, Oncology Immunology (Moscow, Russia) between 2012 2021. The was approved by Independent Ethics Committee Scientific Council Ministry Healthcare Russian Federation. We found that experienced a significant diagnostic delay (the median in diagnosis 4.5 years), although first typical...
SHARED GENETIC FACTORS OF CONNECTIVE TISSUE-RELATED DISORDERS IN WOMEN