A5102862981- Multiple Sclerosis Research Studies
- Pancreatic function and diabetes
- Vascular Malformations Diagnosis and Treatment
- Neuropeptides and Animal Physiology
- T-cell and B-cell Immunology
- Protein Kinase Regulation and GTPase Signaling
- Systemic Lupus Erythematosus Research
- Genetics and Neurodevelopmental Disorders
- Intracranial Aneurysms: Treatment and Complications
- Intracerebral and Subarachnoid Hemorrhage Research
- Receptor Mechanisms and Signaling
- Autism Spectrum Disorder Research
- Immune Cell Function and Interaction
- Monoclonal and Polyclonal Antibodies Research
- Cell death mechanisms and regulation
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- Neuroendocrine regulation and behavior
- Genital Health and Disease
- RNA modifications and cancer
- Epigenetics and DNA Methylation
- Erythrocyte Function and Pathophysiology
- Streptococcal Infections and Treatments
- Liver Disease Diagnosis and Treatment
- Immunotherapy and Immune Responses
Children's Hospital of Los Angeles
2025
Hospitais da Universidade de Coimbra
2023-2024
Hospital Universitario Virgen Macarena
2008-2017
Universidad de Sevilla
1996-2015
University of Twente
2014
Brigham and Women's Hospital
2012
Weizmann Institute of Science
2012
Hôpital Lariboisière
1999
Institut Necker Enfants Malades
1999
Inserm
1999
Multiple sclerosis (MS) is a chronic relapsing disease of the central nervous system (CNS) in which immune processes are believed to play major role. To date, there no reliable method by characterize and their changes associated with different forms MS progression. We performed antigen microarray analysis patterns antibody reactivity serum against panel CNS protein lipid autoantigens heat shock proteins. Informatic consisted training set that was validated on blinded test set. The results...
<h3>Background:</h3> <i>IRF5</i> is a transcription factor involved both in the type I interferon and toll-like receptor signalling pathways. Previously, has been found to be associated with systemic lupus erythematosus, rheumatoid arthritis inflammatory bowel diseases. Here we investigated whether polymorphisms gene would yet another disease features of autoimmunity, multiple sclerosis (MS). <h3>Methods:</h3> We genotyped nine single nucleotide one insertion-deletion polymorphism collection...
The human leukocyte antigen (HLA) DRB1*1501 has been consistently associated with multiple sclerosis (MS) in nearly all populations tested. This points to a specific presentation as the pathogenic mechanism though this does not fully explain disease association. identification of expression quantitative trait loci (eQTL) for genes HLA locus poses question role gene MS susceptibility. We analyzed eQTLs region respect MS-associated HLA-variants obtained from genome-wide association studies...
Primary pigmented nodular adrenocortical disease (PPNAD), a rare cause of corticotropin-independent Cushing syndrome, can be part Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac myxomas, and endocrine tumors or isolated (i). Germline PRKAR1A-inactivating mutations have been observed in both CNC iPPNAD, but with no apparent genotype-phenotype correlation.The objectives the study were detailed phenotyping for...
Background IL-2 receptor (IL2R) alpha is the specific component of high affinity IL2R system involved in immune response and control autoimmunity. Methods Results Here we perform a replication fine mapping IL2RA gene region analyzing 3 SNPs previously associated with multiple sclerosis (MS) 5 type 1 diabetes (T1D) collection 798 MS patients 927 matched Caucasian controls from south Spain. We observed association 6 8 SNPs. The rs1570538, at 3′- UTR extreme gene, reported to have weak MS,...
Multiple sclerosis (MS) is characterized by the local production of antibodies in CNS and presence oligoclonal bands CSF. Antigen arrays allow study antibody reactivity against a large number antigens using small volumes fluid with greater sensitivity than ELISA. We investigated whether there were unique autoantibodies CSF patients MS as measured antigen these differed from those serum.We used to analyze matched serum samples 20 untreated relapsing-remitting (RRMS), 26...
Several studies have highlighted the association of 12q13.3-12q14.1 region with coeliac disease, type 1 diabetes, rheumatoid arthritis and multiple sclerosis (MS); however, causal variants underlying diseases are still unclear. The authors sought to identify functional variant this associated MS.Tag-single nucleotide polymorphism (SNP) analysis encoding 15 genes was performed in 2876 MS patients 2910 healthy Caucasian controls together expression regulation analyses.rs6581155, which tagged...
Several variants in strong linkage disequilibrium (LD) at the SP140 locus have been associated with multiple sclerosis (MS), Crohn's disease (CD) and chronic lymphocytic leukemia (CLL). To determine causal polymorphism, we integrated high-density data sets of expression quantitative trait loci (eQTL), using GEUVADIS RNA sequences 1000 Genomes genotypes, MS-risk Immunochip array performed by International Multiple Sclerosis Genetic Consortium (IMSGC). The most MS were also correlated a...
Multiple Sclerosis (MS) is an autoimmune demyelinating disease that occurs more frequently in women than men. Associated Retrovirus (MSRV) a member of HERV-W, multicopy human endogenous retroviral family repeatedly implicated MS pathogenesis. MSRV envelope protein elevated the serum patients and induces inflammation demyelination but, spite this pathogenic potential, its exact genomic origin mechanism generation are unknown. A possible link between HERV-W copy on chromosome Xq22.3, contains...
Multiple sclerosis (MS) initiates with a first attack or clinically isolated syndrome (CIS). The importance of an early treatment in MS leads to the search, as soon possible, for novel biomarkers which can predict conversion from CIS MS.The purpose this study was assess predictive value kappa index ([Formula: see text] index), using free light chains text]FLCs) cerebrospinal fluid (CSF), patients MS, and compare its accuracy other parameters used clinical practice.FLC levels were analysed...
Objective To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort Spanish patients. Methods We analyzed CCM1, CCM2, CCM3 genes by MLPA direct sequencing exons intronic boundaries 94 familial forms 41 sporadic cases CCM patients extraction. When available, RNA studies were performed seeking for alternative or cryptic splicing. Results A total 26 pathogenic mutations, 22 which predict truncated proteins, identified 29 three cases. The...
Abstract Background Down Syndrome Regression Disorder (DSRD) is an acute or subacute neurocognitive regression in individuals with syndrome (DS), characterized by a loss of previously acquired cognitive, adaptive, and social skills. DSRD profoundly affects individuals’ ability to engage activities daily living, making them highly dependent on their caregivers who must provide significantly more support than before the diagnosis. This study aimed examine caregiver burden, quality life,...
Apoptosis of freshly isolated rat hepatocytes was induced by either the omission fetal bovine serum in culture medium or addition protein kinase C inhibitors polymyxin B staurosporine. The time-course DNA breakdown into oligonucleosome-sized fragments and activity determined. Hepatocytes were found to be sensitive bleomycin which a high degree even within 30 min incubation. Both staurosporine degradation after three hours incubation, an effect that partially prevented phorbol myristate...
We have studied the effect of pig pancreastatin on glucose and lactate production in freshly isolated rat hepatocytes. Pancreastatin stimulated rate output, whereas, contrast with glucagon, it failed to modify production. The effective concentration was range 0.1-100 nM, half-maximal close 1 nM. ability increase output abolished by chelation calcium medium. By itself, did not cyclic AMP (cAMP) levels had no influence cAMP glucagon-stimulated Our results point out a possible role...