Julia Mescheriakova
A5065067169- Multiple Sclerosis Research Studies
- Peripheral Neuropathies and Disorders
- Systemic Lupus Erythematosus Research
- Systemic Sclerosis and Related Diseases
- Viral Infections and Immunology Research
- Cytokine Signaling Pathways and Interactions
- Rheumatoid Arthritis Research and Therapies
- T-cell and B-cell Immunology
- T-cell and Retrovirus Studies
- Neuroinflammation and Neurodegeneration Mechanisms
- vaccines and immunoinformatics approaches
- interferon and immune responses
- Genetic Associations and Epidemiology
- Mycobacterium research and diagnosis
- Gene expression and cancer classification
- Immune Cell Function and Interaction
- Hereditary Neurological Disorders
- Mast cells and histamine
- RNA regulation and disease
- Cell Adhesion Molecules Research
- RNA Research and Splicing
- Vector-borne infectious diseases
- Cardiac electrophysiology and arrhythmias
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Ion channel regulation and function
Erasmus University Rotterdam
2013-2020
Erasmus MC
2013-2020
University of Toronto
2013
Children's Hospital of Philadelphia
2013
Emory University
2013
Hospital for Sick Children
2013
SickKids Foundation
2013
Montreal Neurological Institute and Hospital
2013
McGill University
2013
Yale University
2013
We analyzed genetic data of 47,429 multiple sclerosis (MS) and 68,374 control subjects established a reference map the architecture MS that includes 200 autosomal susceptibility variants outside major histocompatibility complex (MHC), one chromosome X variant, 32 within extended MHC. used an ensemble methods to prioritize 551 putative genes implicate innate adaptive pathways distributed across cellular components immune system. Using expression profiles from purified human microglia, we...
Multiple sclerosis is a complex neurological disease, with ∼20% of risk heritability attributable to common genetic variants, including >230 identified by genome-wide association studies. strands evidence suggest that much the remaining also due additive effects variants rather than epistasis between these or mutations exclusive individual families. Here, we show in 68,379 cases and controls up 5% this explained low-frequency variation gene coding sequence. We identify four novel genes...
<h3>Importance</h3> In 2017, the International Panel on Diagnosis of Multiple Sclerosis revised McDonald 2010 criteria for diagnosis multiple sclerosis (MS). The new are easier to apply and could lead more earlier diagnoses. It is important validate these globally their accuracy in clinical practice. <h3>Objective</h3> To evaluate diagnostic 2017 vs prediction clinically definite MS patients with a typical isolated syndrome (CIS). <h3>Design, Setting Patients</h3> A total 251 at Erasmus MC,...
Abstract: We assembled and analyzed genetic data of 47,351 multiple sclerosis (MS) subjects 68,284 control establish a reference map the architecture MS that includes 200 autosomal susceptibility variants outside major histocompatibility complex (MHC), one chromosome X variant, 32 independent associations within extended MHC. used an ensemble methods to prioritize up 551 potentially associated genes, implicate innate adaptive pathways distributed across cellular components immune system....
A recent genome-wide association study reported five loci for which there was strong, but sub-genome-wide significant evidence with multiple sclerosis risk. The aim of this to evaluate the role these potential risk in a large and independent data set ≈ 20,000 subjects. We tested single nucleotide polymorphisms rs228614 (MANBA), rs630923 (CXCR5), rs2744148 (SOX8), rs180515 (RPS6KB1), rs6062314 (ZBTB46) total 8499 cases sclerosis, 8765 unrelated control subjects 958 trios European descent. In...
<h3>Objective:</h3> To investigate whether 57 genetic risk loci recently identified in a large-scale genome-wide association study adult patients with multiple sclerosis (MS) are also associated for pediatric-onset MS and they can predict diagnosis children presenting acquired demyelinating syndromes (ADS). <h3>Methods:</h3> We included 188 ADS, of whom 53 were diagnosed MS, 466 adult-onset 2,046 controls our cohort study. Weighted scores (wGRS) calculated to evaluate effects....
Background: A promising biomarker for axonal damage early in the disease course of multiple sclerosis (MS) is neurofilament light chain (NfL). It unknown whether NfL has same predictive value MS diagnosis children as adults. Objective: To explore levels cerebrospinal fluid (CSF) paediatric and adult clinically isolated syndrome (CIS) patients. Methods: total 88 65 patients with a first attack demyelination were included followed (mean follow up-time adults: 62.8 months (standard deviation...
<h3>Importance</h3> There is a growing number of therapies that could be administered after the first symptom central nervous system demyelination. These drugs can delay multiple sclerosis (MS) diagnosis and slow down future disability. However, treatment patients with benign course may not needed; therefore, there need for biomarkers to predict long-term prognosis in clinically isolated syndrome (CIS). <h3>Objective</h3> To investigate whether T-cell activation marker soluble CD27 (sCD27)...
<h3>Objective</h3> A recent large-scale study in multiple sclerosis (MS) using the ImmunoChip platform reported on 11 loci that showed suggestive genetic association with MS. Additional data sufficiently sized and independent sets are needed to assess whether these represent genuine MS risk factors. <h3>Methods</h3> The lead SNPs of all were genotyped 10 796 cases 793 controls from Germany, Spain, France, Netherlands, Austria Russia, previously cohorts. Association analyses performed...
<h3>Objective</h3> In multiplex MS families, we determined the humoral immune response to Epstein-Barr virus nuclear antigen 1 (EBNA-1)-specific immunoglobulin γ (IgG) titers in patients with MS, their healthy siblings, and biologically unrelated spouses investigated role of specific genetic loci on antiviral IgG titers. <h3>Methods</h3> levels against EBNA-1 varicella zoster (VZV) as control were measured. <i>HLA-DRB1*1501</i> <i>HLA-A*02</i> tagging single-nucleotide polymorphisms (SNPs)...
Cigarette smoking is a modifiable risk factor that influences the disease course of patients with multiple sclerosis (MS). However, in clinically isolated syndrome (CIS), there are conflicting results about association between and subsequent MS diagnosis. The aim this study was to determine definite (CDMS) non-smoking at time first demyelinating event. Two hundred fifty patients, aged 18–50 years, were included our prospective CIS cohort. At neurological symptoms, completed questionnaire...
Fatigue is reported by more than 75% of multiple sclerosis (MS) patients. In an earlier study, we showed that fatigue not only a common symptom in patients at time clinically isolated syndrome (CIS; fatigued 46%) but also predicts subsequent diagnosis definite (CDMS). The course after CIS unknown.We aimed to explore the long-term CIS.In this 235 patients, aged 18-50 years, were prospectively followed. Patients filled Krupp's Severity Scale (FSS) and Hospital Anxiety Depression (HADS)...
Background: Multiple sclerosis (MS) is a complex disease resulting from the joint effect of many genes. It has been speculated that rare variants might explain part missing heritability MS. Objective: To identify coding genetic by analyzing large MS pedigree with 11 affected individuals in several generations. Methods: Genome-wide linkage screen and whole exome sequencing (WES) were performed to novel shared region(s) known 110 risk loci. The candidate then assessed 591 patients 3169...
Background and purpose Clinically isolated syndrome ( CIS ) is a first demyelinating event of the central nervous system can be single event. After CIS, chronic disease course with ongoing inflammation relapses might occur, resulting in diagnosis multiple sclerosis MS ). As yet, there has been no prospective exploration whether children adults have same course. Methods Patients , whose age ranged from 1 to 50 years, were prospectively followed. We divided patients into three different...
Approximately 20% of multiple sclerosis patients have a family history sclerosis. Studies aggregation in families are inconclusive.To investigate the genetic burden based on currently discovered variants for risk from Dutch multiplex versus sporadic cases, and to study its influence clinical phenotype disease prediction.Our population consisted 283 169 probands 2028 controls. A weighted score 102 non-human leukocyte antigen loci HLA-DRB1*1501 was calculated.The all significantly higher...
Abstract Multiple sclerosis is a common, complex neurological disease, where almost 20% of risk heritability can be attributed to common genetic variants, including >230 identified by genome-wide association studies (Patsopoulos et al., 2017). strands evidence suggest that the majority remaining also due additive effects individual rather than epistatic interactions between these or mutations exclusive families. Here, we show in 68,379 cases and controls as much 5% this explained...
(Cell 175, 1679–1687.e1–e7; November 29, 2018) It has come to our attention that in preparing the final version of this article, authors inadvertently misspelled last name author Charlotte E. Teunissen as “Charlotte Theunissen.” This error been corrected article online. In Editorial Note 178, 262, June 27, 2019), editors refer original published manuscript. That contained a name, and now corrected, we are updating well. Low-Frequency Rare-Coding Variation Contributes Multiple Sclerosis...
Autoimmune diseases (AIDs) cluster in families; however, to what extent AIDs co-occur MS multiplex families with two or more affected individuals is still controversial. The study aimed evaluate coexisting this type of from the Netherlands.A total 155 (155 probands, 959 first-degree relatives and 212 spouses) were characterized for a history 11 by means self-administered questionnaire.In 43.2% families, at least one AID was present relatives. Overall, frequency not significantly different...