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Items 1 to 10 of about 322970
1. Fewings N, Gatt PN, McKay FC, Parnell GP, Schibeci SD, Edwards J, Basuki MA, Goldinger A, Fabis-Pedrini MJ, Kermode AG, Manrique CP, McCauley JL, Nickles D, Baranzini SE, Burke T, Vucic S, Stewart GJ, Booth DR: Data characterizing the ZMIZ1 molecular phenotype of multiple sclerosis. Data Brief; 2017 Apr;11:364-370
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Data characterizing the ZMIZ1 molecular phenotype of multiple sclerosis.
  • The data presented in this article are related to the research article entitled "The autoimmune risk gene ZMIZ1 is a vitamin D responsived marker of a molecular phenotype of multiple sclerosis" Fewings et al. (2017) [1].
  • Here we identify the set of genes correlated with ZMIZ1 in multiple cohorts, provide phenotypic details on those cohorts, and identify the genes negatively correlated with ZMIZ1 and the cells predominantly expressing those genes.

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  • (PMID = 28275670.001).
  • [ISSN] 2352-3409
  • [Journal-full-title] Data in brief
  • [ISO-abbreviation] Data Brief
  • [Language] eng
  • [Grant] United States / NINDS NIH HHS / NS / R01 NS088155
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Keywords] NOTNLM ; Gene expression / Molecular phenotype / Multiple sclerosis / ZMIZ1
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2. Navas-Madroñal M, Valero-Mut A, Martínez-Zapata MJ, Simón-Talero MJ, Figueroa S, Vidal-Fernández N, López-Góngora M, Escartín A, Querol L: Absence of antibodies against KIR4.1 in multiple sclerosis: A three-technique approach and systematic review. PLoS One; 2017;12(4):e0175538
MedlinePlus Health Information. consumer health - Multiple Sclerosis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Absence of antibodies against KIR4.1 in multiple sclerosis: A three-technique approach and systematic review.
  • INTRODUCTION: Antibodies targeting the inward-rectifying potassium channel KIR4.1 have been associated with multiple sclerosis (MS) but studies using diverse techniques have failed to replicate this association.
  • We also performed a systematic review to examine the association of anti-KIR4.1 antibodies with MS.
  • METHODS: Serum samples from patients with MS (n = 108) and controls (n = 77) were tested for the presence of anti-KIR4.1 antibodies using three methods:.
  • We developed a systematic review and meta-analysis of the association of anti-KIR4.1 antibodies with MS according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.
  • RESULTS: We did not detect anti-KIR4.1 antibodies in the MS patients or in controls using ELISA.
  • Only three studies showed a positive association between anti-KIR4.1 and MS.
  • CONCLUSION: We found no association between anti-KIR4.1 antibody positivity and MS.
  • Although this lack of replication may be due to technical limitations, evidence from our study and others is mounting against the role of KIR4.1 as a relevant MS autoantigen.
  • [MeSH-major] Antibodies / immunology. Multiple Sclerosis / immunology. Potassium Channels, Inwardly Rectifying / immunology

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  • (PMID = 28414733.001).
  • [ISSN] 1932-6203
  • [Journal-full-title] PloS one
  • [ISO-abbreviation] PLoS ONE
  • [Language] eng
  • [Publication-type] Journal Article; Meta-Analysis
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antibodies; 0 / Autoantigens; 0 / Kcnj10 (channel); 0 / Potassium Channels, Inwardly Rectifying
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3. Liu G, Hu Y, Jin S, Jiang Q: Genetic variant rs763361 regulates multiple sclerosis CD226 gene expression. Proc Natl Acad Sci U S A; 2017 Feb 07;114(6):E906-E907

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Genetic variant rs763361 regulates multiple sclerosis CD226 gene expression.

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  • (PMID = 28137889.001).
  • [ISSN] 1091-6490
  • [Journal-full-title] Proceedings of the National Academy of Sciences of the United States of America
  • [ISO-abbreviation] Proc. Natl. Acad. Sci. U.S.A.
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] United States
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4. Işik N, Yildiz Manukyan N, Aydin Cantürk İ, Candan F, Ünsal Çakmak A, Saru Han Direskeneli G: Genetic Susceptibility to Multiple Sclerosis: The Role of FOXP3 Gene Polymorphism. Noro Psikiyatr Ars; 2014 Mar;51(1):69-73

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Genetic Susceptibility to Multiple Sclerosis: The Role of FOXP3 Gene Polymorphism.
  • INTRODUCTION: It is well recognized that both genetic and environmental factors play an important role in the pathogenesis of multiple sclerosis (MS).
  • Immune pathogenesis of MS focuses on pathogenic CD4+ T lymphocytes.
  • Functional alterations in FOXP3 gene expression have been observed in various autoimmune diseases.
  • METHODS: We screened a non-synonymous coding single nucleotide polymorphism (exon +2710 C/T) (rs2232369) of human FOXP3 gene in 148 MS patients (118 with Relapsing Remitting MS, 30 with Secondary Progressive MS) and 102 age- and sex-matched healthy controls.
  • The association of polymorphisms with susceptibility, and course of the disease was evaluated.
  • RESULTS: We could not detect any single nucleotide polymorphism in MS patients, however, polymorphic allele was detected in 3% of the control group.
  • Consequently, a genetic association between the FOXP3 gene polymorphism and MS was not revealed.
  • CONCLUSION: The distribution of this polymorphism has not been screened in any other MS populations before.
  • Although we could not succeed to find any association between susceptibility to MS and screened FOXP3 gene polymorphisms, we suggest that this particular polymorphism is not appropriate for these kind of studies in the future.

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  • (PMID = 28360598.001).
  • [ISSN] 1300-0667
  • [Journal-full-title] Noro psikiyatri arsivi
  • [ISO-abbreviation] Noro Psikiyatr Ars
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Turkey
  • [Keywords] NOTNLM ; FOXP3 / Multiple Sclerosis / genotype / polymorphism
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5. Wang XL, Meng FR, Wang X, Wang SH, Guo L: Polymorphism in the third intron of the interferonγ gene is associated with susceptibility to multiple sclerosis. Genet Mol Res; 2017 Feb 16;16(1)
MedlinePlus Health Information. consumer health - Multiple Sclerosis.

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Polymorphism in the third intron of the interferonγ gene is associated with susceptibility to multiple sclerosis.
  • The present study aims to examine the relationship between polymorphisms in the third intron of the IFN-γ gene and their influence on susceptibility to multiple sclerosis.
  • Multiple sclerosis patients and healthy controls were interviewed.
  • Genotypes and allele frequencies of IFN-γ intron III at the +2118 position were significantly different between multiple sclerosis patients and controls (P ≥ 0.05).
  • Thus, polymorphisms at the +2118 A/G site in the IFN-γ intron III gene may be associated with susceptibility to multiple sclerosis.
  • [MeSH-major] Interferon-gamma / genetics. Multiple Sclerosis / genetics. Polymorphism, Single Nucleotide
  • [MeSH-minor] Adolescent. Adult. Aged. Case-Control Studies. Female. Gene Frequency. Genetic Association Studies. Genetic Predisposition to Disease. Genotype. Humans. Introns. Male. Middle Aged. Young Adult

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  • (PMID = 28218775.001).
  • [ISSN] 1676-5680
  • [Journal-full-title] Genetics and molecular research : GMR
  • [ISO-abbreviation] Genet. Mol. Res.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Brazil
  • [Chemical-registry-number] 0 / IFNG protein, human; 82115-62-6 / Interferon-gamma
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6. Liu H, Huang J, Dou M, Liu Y, Xiao B, Liu X, Huang Z: Variants in the IL7RA gene confer susceptibility to multiple sclerosis in Caucasians: evidence based on 9734 cases and 10436 controls. Sci Rep; 2017 Apr 26;7(1):1207

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Variants in the IL7RA gene confer susceptibility to multiple sclerosis in Caucasians: evidence based on 9734 cases and 10436 controls.
  • Recently, numerous genome wide association studies (GWAS) and other case-control association studies examining the relationship between interleukin-7 receptor α chain (IL7RA) gene rs3194051, rs987107, rs11567686, and rs11567685 variants and multiple sclerosis (MS) risk have been conducted, but the conclusions have been inconsistent.
  • The main objective of this meta-analysis was to more precisely explore the association of these four IL7RA variants with MS development.
  • Power calculation, publication bias, sensitivity analysis and cumulative meta-analysis were performed to derive a reliable conclusion.
  • Our study indicated three IL7RA loci were significantly associated with increasing MS risk (rs3194051: recessive model: OR = 1.22, 95% CI 1.08-1.38; rs987107: recessive model: OR = 1.44, 95% CI 1.22-1.69; and rs11567686: dominant model: OR = 1.18, 95% CI 1.01-1.37).
  • Additionally, IL7RA rs11567685 variants might not be related to MS development.
  • In all, IL7RA locus polymorphisms could play an important role in the predisposition to MS, which could contribute to a better understanding the pathogenesis of multiple sclerosis.

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  • (PMID = 28446795.001).
  • [ISSN] 2045-2322
  • [Journal-full-title] Scientific reports
  • [ISO-abbreviation] Sci Rep
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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7. Qendro V, Bugos GA, Lundgren DH, Glynn J, Han MH, Han DK: Integrative proteomics, genomics, and translational immunology approaches reveal mutated forms of Proteolipid Protein 1 (PLP1) and mutant-specific immune response in multiple sclerosis. Proteomics; 2017 Mar;17(6)
NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Integrative proteomics, genomics, and translational immunology approaches reveal mutated forms of Proteolipid Protein 1 (PLP1) and mutant-specific immune response in multiple sclerosis.
  • In order to gain mechanistic insights into multiple sclerosis (MS) pathogenesis, we utilized a multi-dimensional approach to test the hypothesis that mutations in myelin proteins lead to immune activation and central nervous system autoimmunity in MS.
  • Mass spectrometry-based proteomic analysis of human MS brain lesions revealed seven unique mutations of PLP1; a key myelin protein that is known to be destroyed in MS.
  • Surprisingly, in-depth genomic analysis of two MS patients at the genomic DNA and mRNA confirmed mutated PLP1 in RNA, but not in the genomic DNA.
  • Quantification of wild type and mutant PLP RNA levels by qPCR further validated the presence of mutant PLP RNA in the MS patients.
  • To seek evidence linking mutations in abundant myelin proteins and immune-mediated destruction of myelin, specific immune response against mutant PLP1 in MS patients was examined.
  • Thus, we have designed paired, wild type and mutant peptide microarrays, and examined antibody response to multiple mutated PLP1 in sera from MS patients.
  • Consistent with the idea of different patients exhibiting unique mutation profiles, we found that 13 out of 20 MS patients showed antibody responses against specific but not against all the mutant-PLP1 peptides.
  • Interestingly, we found mutant PLP-directed antibody response against specific mutant peptides in the sera of pre-MS controls.
  • The results from integrative proteomic, genomic, and immune analyses reveal a possible mechanism of mutation-driven pathogenesis in human MS.
  • [MeSH-major] Allergy and Immunology. Multiple Sclerosis / immunology. Multiple Sclerosis / metabolism. Mutation / genetics. Myelin Proteolipid Protein / genetics. Proteomics / methods. Translational Medical Research / methods

  • NCI CPTC Antibody Characterization Program. NCI CPTC Antibody Characterization Program .
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  • [Copyright] © 2017 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.
  • (PMID = 28191734.001).
  • [ISSN] 1615-9861
  • [Journal-full-title] Proteomics
  • [ISO-abbreviation] Proteomics
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Antibodies; 0 / Myelin Proteolipid Protein; 0 / PLP1 protein, human
  • [Keywords] NOTNLM ; Genomics / Immunoproteomics / Multiple sclerosis / Next generation sequencing / PLP1 / Peptide microarrays / Precision / Proteomics
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8. Wagner M, Sobczyński M, Bilińska M, Pokryszko-Dragan A, Cyrul M, Kuśnierczyk P, Jasek M: Preliminary Study on the Role of TMEM39A Gene in Multiple Sclerosis. J Mol Neurosci; 2017 Jun;62(2):181-187

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Preliminary Study on the Role of TMEM39A Gene in Multiple Sclerosis.
  • Genome-wide association studies (GWAS) have identified hundreds of new potential genetic risk loci associated with numerous complex diseases such as multiple sclerosis (MS).
  • The goal of this study was to confirm and understand the potential role of one of such genes-transmembrane protein 39A gene (TMEM39A)-in multiple sclerosis.We showed the difference in TMEM39A messenger RNA (mRNA) expression between MS patients and controls (T <sup>2</sup><sub>2;74</sub> = 5.429; p = 0.0063).
  • In our study, the lower mRNA expression of TMEM39A gene in patients did not correlate with a higher methylation level of the TMEM39A promoter.
  • Additionally, we did not find an association between these two TMEM39A polymorphisms and the risk and progression of multiple sclerosis.Our investigation is the first which indicates that TMEM39A mRNA expression may be associated with the development and/or course of multiple sclerosis.

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  • (PMID = 28444502.001).
  • [ISSN] 1559-1166
  • [Journal-full-title] Journal of molecular neuroscience : MN
  • [ISO-abbreviation] J. Mol. Neurosci.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; Methylation / Multiple sclerosis / Polymorphism / TMEM39A / mRNA expression
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9. Leurs CE, Podlesniy P, Trullas R, Balk L, Steenwijk MD, Malekzadeh A, Piehl F, Uitdehaag BM, Killestein J, van Horssen J, Teunissen CE: Cerebrospinal fluid mtDNA concentration is elevated in multiple sclerosis disease and responds to treatment. Mult Scler; 2017 Mar 01;:1352458517699874

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Cerebrospinal fluid mtDNA concentration is elevated in multiple sclerosis disease and responds to treatment.
  • BACKGROUND: Mitochondrial dysfunction is increasingly recognized as an important feature of multiple sclerosis (MS) pathology and may be relevant for clinical disease progression.
  • However, it is unknown whether mitochondrial DNA (mtDNA) levels in the cerebrospinal fluid (CSF) associate with disease progression and therapeutic response.
  • OBJECTIVES: To evaluate whether CSF concentrations of mtDNA in MS patients can serve as a marker of ongoing neuropathology and may be helpful to differentiate between MS disease subtypes.
  • To explore the effect of disease-modifying therapies on mtDNA levels in the CSF.
  • METHODS: CSF mtDNA was measured using a digital polymerase chain reaction (PCR) CSF mtDNA in two independent MS cohorts.
  • The cohorts included 92 relapsing-remitting multiple sclerosis (RRMS) patients, 40 progressive multiple sclerosis (PMS) patients (27 secondary progressive and 13 primary progressive), 50 various neurologic disease controls, and 5 healthy controls.
  • RESULTS: Patients with PMS showed a significant increase in CSF mtDNA compared to non-inflammatory neurologic disease controls.

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  • (PMID = 28294696.001).
  • [ISSN] 1477-0970
  • [Journal-full-title] Multiple sclerosis (Houndmills, Basingstoke, England)
  • [ISO-abbreviation] Mult. Scler.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Keywords] NOTNLM ; Multiple sclerosis / biomarkers / cerebrospinal fluid / digital PCR / mitochondrial DNA
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10. Jakimovski D, Weinstock-Guttman B, Ramanathan M, Kolb C, Hojnacki D, Minagar A, Zivadinov R: Ocrelizumab: a B-cell depleting therapy for multiple sclerosis. Expert Opin Biol Ther; 2017 Sep;17(9):1163-1172

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Ocrelizumab: a B-cell depleting therapy for multiple sclerosis.
  • INTRODUCTION: Multiple sclerosis (MS) is the most common neurological disease responsible for early disability in the young working population.
  • In the last two decades, based on retrospective/prospective data, the use of disease-modifying therapies has been shown to slow the rate of disability progression and prolonged the time to conversion into secondary-progressive MS (SPMS).
  • However, despite the availability of several approved therapies, disability progression cannot be halted significantly in all MS patients.
  • Areas covered: This article reviews the immunopathology of the B-cells, and their role in pathogenesis of MS and their attractiveness as a potential therapeutic target in MS.
  • Expert opinion: B lymphocyte cell depletion therapy offers a compelling and promising new option for MS patients.

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  • (PMID = 28658986.001).
  • [ISSN] 1744-7682
  • [Journal-full-title] Expert opinion on biological therapy
  • [ISO-abbreviation] Expert Opin Biol Ther
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Keywords] NOTNLM ; B-cell therapy / Ocrelizumab / multiple sclerosis / primary-progressive / relapsing-remitting
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