Search Results - "SALNIKOVA, Lyubov E"
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Genetics and Traumatic Brain Injury: Findings from an Exome-Based Study of a 50-Patient Case Series
Published in Current issues in molecular biology (17-09-2024)“…Traumatic brain injury (TBI) is the leading cause of global mortality and morbidity. Because TBI is accident-related, the role of genetics in predisposing to…”
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COVID-19 severity: does the genetic landscape of rare variants matter?
Published in Frontiers in genetics (29-06-2023)“…Rare variants affecting host defense against pathogens may be involved in COVID-19 severity, but most rare variants are not expected to have a major impact on…”
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Pneumonia and Related Conditions in Critically Ill Patients—Insights from Basic and Experimental Studies
Published in International journal of molecular sciences (01-09-2022)“…Pneumonia is an acute infectious disease with high morbidity and mortality rates. Pneumonia’s development, severity and outcome depend on age, comorbidities…”
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Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity
Published in Frontiers in immunology (21-10-2019)“…The recent report of the International Union of Immunological Societies (IUIS) has provided the categorized list of 354 inborn errors of immunity. We performed…”
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Expression changes in pelvic organ prolapse: a systematic review and in silico study
Published in Scientific reports (09-08-2017)“…Pelvic organ prolapse (POP) is a highly disabling condition common for a vast number of women worldwide. To contribute to existing knowledge in POP…”
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Rare Variants in Primary Immunodeficiency Genes and Their Functional Partners in Severe COVID-19
Published in Biomolecules (Basel, Switzerland) (01-09-2023)“…The development of severe COVID-19, which is a complex multisystem disease, is thought to be associated with many genes whose action is modulated by numerous…”
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TREC/KREC Levels in Young COVID-19 Patients
Published in Diagnostics (Basel) (16-08-2021)“…COVID-19 patients with acute respiratory distress syndrome (ARDS) have an immune imbalance when systemic inflammation and dysfunction of circulating T and B…”
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An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases
Published in Human genetics (01-09-2021)“…Primary immunodeficiencies (PID) are a diverse group of genetic disorders caused by inadequate development and function of immune system. Identifying genetic…”
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Clinicopathologic Characteristics of Brain Tumors are Associated with the Presence and Patterns of TP53 Mutations: Evidence from the IARC TP53 Database
Published in Neuromolecular medicine (01-06-2014)“…Biological diversity in the development and progression of brain tumors may be based on the consequences of the nature of the TP53 mutation in the cancer…”
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Cytokines mapping for tissue-specific expression, eQTLs and GWAS traits
Published in Scientific reports (07-09-2020)“…Dysregulation in cytokine production has been linked to the pathogenesis of various immune-mediated traits, in which genetic variability contributes to the…”
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Genetic structure of native and naturalized populations of sable (Martes zibellina L.) of the Central Siberian Plateau and adjacent territories
Published in Biological invasions (01-07-2024)“…The sable ( Martes zibellina L.) range extends from the western slopes of the Ural Mountains to the Far East. Sable has a complex intraspecific structure;…”
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Biological findings from the PheWAS catalog: focus on connective tissue-related disorders (pelvic floor dysfunction, abdominal hernia, varicose veins and hemorrhoids)
Published in Human genetics (01-07-2016)“…Pelvic floor dysfunction, specifically genital prolapse (GP) and stress urinary inconsistency (SUI) presumably co-occur with other connective tissue disorders…”
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Genes and Diseases: Insights from Transcriptomics Studies
Published in Genes (28-06-2022)“…Results of expression studies can be useful to clarify the genotype-phenotype relationship. However, according to data from recent literature, there is a large…”
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Genetic dissection of host immune response in pneumonia development and progression
Published in Scientific reports (11-10-2016)“…The role of host genetic variation in pneumonia development and outcome is poorly understood. We studied common polymorphisms in the genes of proinflammatory…”
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Fibulin-5 ( FBLN5 ) gene polymorphism is associated with pelvic organ prolapse
Published in Maturitas (01-08-2014)“…Abstract Objective FBLN5 encodes a key protein of elastic fiber matrix assembly and function that contributes to maintaining pelvic support and plays the…”
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Host genetic risk factors for community-acquired pneumonia
Published in Gene (15-04-2013)“…This study was conducted to establish the contribution of genetic host factors in the susceptibility to community acquired pneumonia (CAP) in the Russian…”
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The potential effect of gender in CYP1A1 and GSTM1 genotype-specific associations with pediatric brain tumor
Published in Tumor biology (01-10-2013)“…Brain tumors are the common site for solid tumors in childhood. Very few studies have investigated genes with low penetrance in relation to pediatric brain…”
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Verification of the Chromosome Region 9q21 Association with Pelvic Organ Prolapse Using RegulomeDB Annotations
Published in BioMed research international (01-01-2015)“…Pelvic organ prolapse (POP) is a common highly disabling disorder with a large hereditary component. It is characterized by a loss of pelvic floor support that…”
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Functional polymorphisms in the CYP1A1 , ACE , and IL-6 genes contribute to susceptibility to community-acquired and nosocomial pneumonia
Published in International journal of infectious diseases (01-06-2013)“…Summary Objectives To establish the contribution of genetic host factors to the risk of community-acquired pneumonia (CAP) and nosocomial pneumonia (NP) in the…”
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Association of the Apolipoprotein E 2 Allele with Concurrent Occurrence of Endometrial Hyperplasia and Endometrial Carcinoma
Published in Oxidative medicine and cellular longevity (01-01-2015)“…Genes encoding proteins with antioxidant properties may influence susceptibility to endometrial hyperplasia (EH) and endometrial carcinoma (ECa). Patients with…”
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