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Items 1 to 10 of about 327430
1. Maver A, Lavtar P, Ristić S, Stopinšek S, Simčič S, Hočevar K, Sepčić J, Drulović J, Pekmezović T, Novaković I, Alenka H, Rudolf G, Šega S, Starčević-Čizmarević N, Palandačić A, Zamolo G, Kapović M, Likar T, Peterlin B: Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis. Sci Rep; 2017 Jun 16;7(1):3715

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.
  • The genetic etiology and the contribution of rare genetic variation in multiple sclerosis (MS) has not yet been elucidated.
  • Although familial forms of MS have been described, no convincing rare and penetrant variants have been reported to date.
  • We aimed to characterize the contribution of rare genetic variation in familial and sporadic MS and have identified a family with two sibs affected by concomitant MS and malignant melanoma (MM).
  • We performed whole exome sequencing in this primary family and 38 multiplex MS families and 44 sporadic MS cases and performed transcriptional and immunologic assessment of the identified variants.
  • We identified a potentially causative homozygous missense variant in NLRP1 gene (Gly587Ser) in the primary family.
  • Stimulation of peripheral blood mononuclear cells from MS patients with putatively pathogenic NLRP1 variants showed an increase in IL-1B gene expression and active cytokine IL-1β production, as well as global activation of NLRP1-driven immunologic pathways.
  • We report a novel familial association of MS and MM, and propose a possible underlying genetic basis in NLRP1 gene.
  • Furthermore, we provide initial evidence of the broader implications of NLRP1-related pathway dysfunction in MS.

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  • (PMID = 28623311.001).
  • [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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2. Sanders KA, White N, Benton MC, Scott RJ, Lechner-Scott J: Differential methylation at <i>MHC</i> in CD4<sup>+</sup> T cells is associated with multiple sclerosis independently of <i>HLA-DRB1</i>. Clin Epigenetics; 2017;9:71

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Differential methylation at <i>MHC</i> in CD4<sup>+</sup> T cells is associated with multiple sclerosis independently of <i>HLA-DRB1</i>.
  • BACKGROUND: Although many genetic variants have been associated with multiple sclerosis (MS) risk, they do not explain all the disease risk and there remains uncertainty as to how these variants contribute to disease.
  • DNA methylation is an epigenetic mechanism that can influence gene expression and has the potential to mediate the effects of environmental factors on MS.
  • In a previous study, we found a differentially methylation region (DMR) at MHC <i>HLA-DRB1</i> that was associated within relapsing-remitting MS (RRMS) patients in CD4<sup>+</sup> T cells.
  • This study aimed to confirm this earlier finding in an independent RRMS cohort of treatment-naïve female patients.
  • Beta values for all CpGs were analysed using the DMPFinder function in the MINFI program, and a follow-up prioritisation process was applied to identify the most robust MS-associated DMRs.
  • In addition, we identified a large independent DMR at MHC, whereby 11 CpGs in <i>RNF39</i> were hypermethylated in MS cases compared to controls (max.
  • CONCLUSIONS: The findings from this study confirm our previous results of a DMR at <i>HLA-DRB1</i> and also suggest hypermethylation in an independent MHC locus, <i>RNF39</i>, is associated with MS<i>.
  • </i> Taken together, our results highlight the importance of epigenetic factors at the MHC locus in MS independent of treatment, age and sex.
  • Prospective studies are now required to discern whether methylation at MHC is involved in influencing risk of disease onset or whether the disease itself has altered the methylation profile.

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  • (PMID = 28729889.001).
  • [ISSN] 1868-7083
  • [Journal-full-title] Clinical epigenetics
  • [ISO-abbreviation] Clin Epigenetics
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
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3. Cardamone G, Paraboschi EM, Rimoldi V, Duga S, Soldà G, Asselta R: The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis. Int J Mol Sci; 2017 Mar 07;18(3)
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] The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis.
  • In particular, a growing body of evidence suggests the existence of a pathogenic association between a generalized defect in splicing regulatory genes and multiple sclerosis (MS).
  • Moreover, several studies have documented an unbalance in alternatively-spliced isoforms in MS patients possibly contributing to the disease etiology.
  • In this work, using a combination of PCR-based techniques (reverse-transcription (RT)-PCR, fluorescent-competitive, real-time, and digital RT-PCR assays), we investigated the alternatively-spliced gene encoding Gasdermin B, <i>GSDMB</i>, which was repeatedly associated with susceptibility to asthma and AIDs.
  • Importantly, both AS isoforms and the identified ecircRNA were significantly dysregulated in peripheral blood mononuclear cells of relapsing-remitting MS patients compared to controls, further supporting the notion that aberrant RNA metabolism is a characteristic feature of the disease.
  • [MeSH-major] Gene Expression Regulation. Multiple Sclerosis / genetics. Neoplasm Proteins / genetics. RNA. RNA Splicing
  • [MeSH-minor] Alternative Splicing. Case-Control Studies. Exons. Female. Gene Order. Humans. Male. Multiple Sclerosis, Relapsing-Remitting / blood. Multiple Sclerosis, Relapsing-Remitting / genetics. Nonsense Mediated mRNA Decay

  • Genetic Alliance. consumer health - Multiple Sclerosis.
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  • (PMID = 28272342.001).
  • [ISSN] 1422-0067
  • [Journal-full-title] International journal of molecular sciences
  • [ISO-abbreviation] Int J Mol Sci
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Switzerland
  • [Chemical-registry-number] 0 / GSDMB protein, human; 0 / Neoplasm Proteins; 0 / RNA, circular; 63231-63-0 / RNA
  • [Keywords] NOTNLM ; GSDMB / alternative splicing / circRNA / multiple sclerosis / nonsense-mediated mRNA decay
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4. Shahbazi M, Abdolmohammadi R, Ebadi H, Farazmandfar T: Novel functional polymorphism in IGF-1 gene associated with multiple sclerosis: A new insight to MS. Mult Scler Relat Disord; 2017 Apr;13:33-37

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Novel functional polymorphism in IGF-1 gene associated with multiple sclerosis: A new insight to MS.
  • BACKGROUND: Interactions between several genes and environment may play a role in susceptibility to multiple sclerosis (MS).
  • Therefore, we hypothesized that IGF-1 may be a target for prediction and control MS.
  • We aimed to analysis IGF-1 gene promoter sequence, to investigate the effect of the single nucleotide variants on IGF-1 expression and its association with MS.
  • METHODS: We enrolled 339 MS patients and 431 healthy controls.
  • A specific region in IGF-1 gene promoter was investigated by SSCP analysis.
  • RESULTS: We identified a T to C single nucleotide substitution at position -1089 and a C to T at position -383 from transcription start site in the IGF-1 gene promoter.
  • There was a significant association between MS and genotypes IGF-1(-383) C/T (p=0.001) and IGF-1(-383) C/C (p<0.001).
  • There was also a significant association between IGF-1(-383) allele C and MS (p=0.001).
  • CONCLUSION: According to IGF-1 roles in CNS and our results, this study suggests that low IGF-1 level may be associated with susceptibility to MS.
  • [MeSH-major] Genetic Predisposition to Disease. Insulin-Like Growth Factor I / genetics. Multiple Sclerosis / genetics

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  • [Copyright] Copyright © 2017 Elsevier B.V. All rights reserved.
  • (PMID = 28427698.001).
  • [ISSN] 2211-0356
  • [Journal-full-title] Multiple sclerosis and related disorders
  • [ISO-abbreviation] Mult Scler Relat Disord
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / RNA, Messenger; 67763-96-6 / Insulin-Like Growth Factor I
  • [Keywords] NOTNLM ; Gene polymorphism / IGF-1 / Multiple sclerosis
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5. D'Cunha MA, Pandit L, Malli C: CD6 gene polymorphism rs17824933 is associated with multiple sclerosis in Indian population. Ann Indian Acad Neurol; 2016 Oct-Dec;19(4):491-494
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] CD6 gene polymorphism rs17824933 is associated with multiple sclerosis in Indian population.
  • BACKGROUND: Multiple sclerosis (MS) prevalence has increased worldwide.
  • The known genetic association for MS in the west has not been studied in detail in nonwhite populations and particularly Indians.
  • OBJECTIVE: The objective of this study was to evaluate some known genetic variations outside the major histocompatibility complex (MHC) region associated with MS in patients of Indian origin.
  • MATERIALS AND METHODS: We investigated 10 gene-associated single nucleotide polymorphisms (SNP's) outside the MHC region in 300 patients and 720 unrelated controls.
  • RESULTS: CD6 gene associated SNP (rs17824933) showed significant association with MS (<i>P</i> = 4.2 × 10<sup>-5</sup>, odds ratio [OR] = 2.24, confidence interval (CI) = 1.51-3.33).
  • CONCLUSION: Our data illustrate the similarity in risk association between Indian and European populations for MS.

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  • (PMID = 27994359.001).
  • [ISSN] 0972-2327
  • [Journal-full-title] Annals of Indian Academy of Neurology
  • [ISO-abbreviation] Ann Indian Acad Neurol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] India
  • [Keywords] NOTNLM ; Genetic susceptibility / Indian / South Asians / multiple sclerosis / single nucleotide polymorphism
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6. Sadovnick AD, Gu BJ, Traboulsee AL, Bernales CQ, Encarnacion M, Yee IM, Criscuoli MG, Huang X, Ou A, Milligan CJ, Petrou S, Wiley JS, Vilariño-Güell C: Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis. Hum Mutat; 2017 Jun;38(6):736-744
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.
  • Genetic variants in the purinergic receptors P2RX4 and P2RX7 have been shown to affect susceptibility to multiple sclerosis (MS).
  • Sequencing analysis of P2RX4 and P2RX7 in 193 MS patients and 100 controls led to the identification of a rare three variant haplotype (P2RX7 rs140915863:C>T [p.T205M], P2RX7 rs201921967:A>G [p.N361S], and P2RX4 rs765866317:G>A [p.G135S]) segregating with disease in a multi-incident family with six family members diagnosed with MS (logarithm of odds = 3.07).
  • Our study nominates rare genetic variants in P2RX4 and P2RX7 as major genetic contributors to disease, further supporting a role for these purinergic receptors in MS and the disruption of transmembrane cation channels leading to impairment of phagocytosis as the pathological mechanisms of disease.

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  • [Copyright] © 2017 Wiley Periodicals, Inc.
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  • (PMID = 28326637.001).
  • [ISSN] 1098-1004
  • [Journal-full-title] Human mutation
  • [ISO-abbreviation] Hum. Mutat.
  • [Language] eng
  • [Grant] Canada / Canadian Institutes of Health Research / / 126949-1; Canada / Canadian Institutes of Health Research / / 137051-1
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Keywords] NOTNLM ; P2RX4, P2RX7, P2X4, P2X7, variant / familial, Mendelian, multiple sclerosis / mutation
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7. Haibing X, Xu C, Jifu C, Wenshuang Z, Ling L, Yuzhen C, Yanjun H: Correlation between CTLA-4 gene rs221775A&gt;G single nucleotide polymorphism and multiple sclerosis susceptibility. A meta-analysis. Open Med (Wars); 2016;11(1):264-269

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Correlation between CTLA-4 gene rs221775A>G single nucleotide polymorphism and multiple sclerosis susceptibility. A meta-analysis.
  • OBJECTIVE: The aim of this meta-analysis was to undertake a meta-analysis to evaluate the correlation between cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) gene rs221775 A>G single nucleotide polymorphism and the susceptibility of multiple sclerosis (MS) susceptibility.
  • METHOD: Published manuscripts about CTLA-4 gene rs221775A>G single nucleotide polymorphism and multiple sclerosis susceptibility were searched in the computerized bibliographic searches of Pubmed Embase and China National Knowledge Infrastructure (CNKI).
  • Potential studies were screened and data for 5025 MS patients and 4706 controls from 20 publications were included.
  • The association between CTLA-4 gene rs221775A>G single nucleotide polymorphism and multiple sclerosis susceptibility were demonstrated by odds ratio (OR) and 95% confidence interval (95%CI).
  • RESULTS: The pooled results showed no significant association between CTLA-4 gene rs221775A>G single nucleotide polymorphism and multiple sclerosis susceptibility for dominant genetic model [OR=1.02, 95%CI:0.90~1.05, (P=0.80)], homozygous genetic model [OR=0.85,95%CI:0.71 ~1.03,(P=0.10)] and recessive genetic model [OR=0.99,95% CI:0.89~1.10,(P=0.90)].
  • CONCLUSION: With current evidence, CTLA-4 gene rs221775A>G single nucleotide polymorphism had no association with the susceptibility of multiple sclerosis.

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  • (PMID = 28352806.001).
  • [ISSN] 2391-5463
  • [Journal-full-title] Open medicine (Warsaw, Poland)
  • [ISO-abbreviation] Open Med (Wars)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Poland
  • [Keywords] NOTNLM ; CTLA-4 gene / Meta-analysis / Multiple sclerosis / Polymorphism / Susceptibility
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8. Szalardy L, Zadori D, Bencsik K, Vecsei L, Klivenyi P: Unlike PPARgamma, neither other PPARs nor PGC-1alpha is elevated in the cerebrospinal fluid of patients with multiple sclerosis. Neurosci Lett; 2017 Jun 09;651:128-133

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Unlike PPARgamma, neither other PPARs nor PGC-1alpha is elevated in the cerebrospinal fluid of patients with multiple sclerosis.
  • Corroborating with prior experimental findings, we recently reported the pronounced elevation of peroxisome proliferator-activated receptor gamma (PPARγ) protein concentration in the cerebrospinal fluid (CSF) of patients with multiple sclerosis (MS), in association with neuroinflammatory markers and clinical severity.
  • Based on subsequent reports on the possible involvement of other PPARs and PPARγ coactivator-1alpha (PGC-1α) in neuroinflammation in MS, we analyzed the protein levels of PPARα, PPARβ/δ, and PGC-1α in a subset of CSF samples from the same cohort of relapsing-remitting MS patients.
  • Unlike PPARγ, none of these proteins were found elevated in MS patients (n=25) compared to non-inflammatory controls (n=16), with the levels of PPARα and PPARβ/δ found generally below the limit of detection, and that of PGC-1α being detectable but comparable in both groups.
  • The findings suggest that despite their proposed involvement in the regulation of inflammatory processes in MS, PPARα, PPARβ/δ, and PGC-1α proteins are not potential biomarkers of neuroinflammation in MS, and indicate a preferential role of PPARγ in the endogenous regulation of autoimmune response in the human CNS within its receptor family.

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  • [Copyright] Copyright © 2017 Elsevier B.V. All rights reserved.
  • (PMID = 28483651.001).
  • [ISSN] 1872-7972
  • [Journal-full-title] Neuroscience letters
  • [ISO-abbreviation] Neurosci. Lett.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Ireland
  • [Keywords] NOTNLM ; Biomarker / Cerebrospinal fluid / ELISA / Multiple sclerosis / Peroxisome proliferator-activated receptor alpha / Peroxisome proliferator-activated receptor beta / Peroxisome proliferator-activated receptor gamma / Peroxisome proliferator-activated receptor gamma coactivator 1-alpha
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9. Fewings NL, 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: The autoimmune risk gene ZMIZ1 is a vitamin D responsive marker of a molecular phenotype of multiple sclerosis. J Autoimmun; 2017 Jan 04;

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The autoimmune risk gene ZMIZ1 is a vitamin D responsive marker of a molecular phenotype of multiple sclerosis.
  • : Multiple Sclerosis (MS) is a neurological condition driven in part by immune cells from the peripheral circulation, the targets for current successful therapies.
  • The autoimmune and MS risk gene ZMIZ1 is underexpressed in blood in people with MS.
  • Further we show expression is partially heritable (heritability 0.26), relatively stable over time, predominantly in plasmacytoid dendritic cells and non-classical monocytes, and that levels of ZMIZ1 protein expression are reduced in MS.
  • ZMIZ1 gene expression is increased in response to calcipotriol (1,25 Vitamin D3) (p < 0.0003) and associated with Epstein Barr Virus (EBV) EBNA-1 antibody titre (p < 0.004).
  • MS therapies fingolimod and dimethyl fumarate altered blood ZMIZ1 gene expression compared to untreated MS.
  • The phenotype indicates susceptibility to MS, and may correspond with clinical response and represent a novel clinical target.

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  • [Copyright] Copyright © 2016. Published by Elsevier Ltd.
  • (PMID = 28063629.001).
  • [ISSN] 1095-9157
  • [Journal-full-title] Journal of autoimmunity
  • [ISO-abbreviation] J. Autoimmun.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Keywords] NOTNLM ; Autoimmunity / Biomarker / Gene expression / Genetics / Multiple sclerosis / ZMIZ1
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10. Iwanowski P, Losy J, Kramer L, Wójcicka M, Kaufman E: CXCL10 and CXCL13 chemokines in patients with relapsing remitting and primary progressive multiple sclerosis. J Neurol Sci; 2017 Sep 15;380:22-26

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] CXCL10 and CXCL13 chemokines in patients with relapsing remitting and primary progressive multiple sclerosis.
  • OBJECTIVES: Multiple sclerosis (MS) is a chronic inflammatory demyelinating disease of the central nervous system characterized by a variable clinical course.
  • Different pathogenic mechanisms responsible for relapsing remitting (RRMS) and primary progressive multiple sclerosis (PPMS) are modulated by immunological process with important role of chemokine network.
  • In the present study, we investigated the concentrations of CXCL10 and CXCL13 in serum and cerebrospinal fluid (CSF) of patients with RRMS and PPMS.
  • Correlations analysis between the levels of CXCL10, CXCL13 and patient age, duration of MS, EDSS and IgG index were done.
  • The results have shown that in the stable phase of MS without relapse, mean concentration of CXCL10 and CXCL13 in CSF did not differ significantly between RRMS and PPMS.
  • In PPMS a positive correlation between IgG index and CSF CXCL10 level or CSF CXCL13 level was observed.
  • In RRMS a positive correlation between IgG index and CSF CXCL13 level was observed.
  • CONCLUSIONS: These data indicate involvement of CXCL10 and CXCL13 chemokines in immunopathogenetic mechanisms in MS.

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  • [Copyright] Copyright © 2017 Elsevier B.V. All rights reserved.
  • (PMID = 28870573.001).
  • [ISSN] 1878-5883
  • [Journal-full-title] Journal of the neurological sciences
  • [ISO-abbreviation] J. Neurol. Sci.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Keywords] NOTNLM ; CXCL10 / CXCL13 / Cerebrospinal fluid / Chemokine / Multiple sclerosis / PPMS / RRMS
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