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Items 1 to 10 of about 320873
1. Zare L, Sheikh Fathollahi M, Kazemi Arababadi M, Shamsizadeh A, Daneshpajouh B, Zainodini N, Allahtavakoli M: The Association Between C424c/A Polymorphism Within the IL-25 Gene and Multiple Sclerosis. Iran Red Crescent Med J; 2016 Sep;18(9):e25995

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The Association Between C424c/A Polymorphism Within the IL-25 Gene and Multiple Sclerosis.
  • BACKGROUND: Multiple Sclerosis (MS) is a common autoimmune system disease which affects the central nervous system.
  • It has been documented that interleukin-25 (IL-25) plays key roles in suppressing Th1 responses, which is increased during MS.
  • OBJECTIVES: The aim of this study was to investigate the c424C/A polymorphism within the IL-25 gene in MS patients in comparison to healthy controls.
  • PATIENTS AND METHODS: In this case-control study, 74 patients with MS and 75 healthy controls were selected.
  • Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) was used in order to determine c424C/A polymorphism within the IL-25 gene.
  • RESULTS: The results showed that there was no statistical significant difference in distribution of genotype (AA, AC and CC) and allele (A and C) frequencies between MS patients and healthy controls (P = 0.901 and P = 0.728, respectively).
  • CONCLUSIONS: In conclusion, it appears that the c424C/A polymorphism within the IL-25 gene has no significant relationship with MS, and this polymorphism is probably not associated with MS complications, its onset and gender distribution.

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  • (PMID = 28144453.001).
  • [ISSN] 2074-1804
  • [Journal-full-title] Iranian Red Crescent medical journal
  • [ISO-abbreviation] Iran Red Crescent Med J
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Iran
  • [Keywords] NOTNLM ; CCL25 / Genetic / Multiple Sclerosis / Polymorphism
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2. 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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3. Haibing X, Xu C, Jifu C, Wenshuang Z, Ling L, Yuzhen C, Yanjun H: Correlation between CTLA-4 gene rs221775A>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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4. 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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5. Haile Y, Deng X, Ortiz-Sandoval C, Tahbaz N, Janowicz A, Lu JQ, Kerr BJ, Gutowski NJ, Holley JE, Eggleton P, Giuliani F, Simmen T: Rab32 connects ER stress to mitochondrial defects in multiple sclerosis. J Neuroinflammation; 2017 Jan 23;14(1):19

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Rab32 connects ER stress to mitochondrial defects in multiple sclerosis.
  • BACKGROUND: Endoplasmic reticulum (ER) stress is a hallmark of neurodegenerative diseases such as multiple sclerosis (MS).
  • However, this physiological mechanism has multiple manifestations that range from impaired clearance of unfolded proteins to altered mitochondrial dynamics and apoptosis.
  • METHODS: We assessed Rab32 expression in MS patient and experimental autoimmune encephalomyelitis (EAE) tissue, via observation of mitochondria in primary neurons and via monitoring of survival of neuronal cells upon increased Rab32 expression.
  • RESULTS: We found that the induction of Rab32 and other MAM proteins correlates with ER stress proteins in MS brain, as well as in EAE, and occurs in multiple central nervous system (CNS) cell types.
  • CONCLUSIONS: ER stress is strongly associated with Rab32 upregulation in the progression of MS, leading to mitochondrial dysfunction and neuronal death.

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  • (PMID = 28115010.001).
  • [ISSN] 1742-2094
  • [Journal-full-title] Journal of neuroinflammation
  • [ISO-abbreviation] J Neuroinflammation
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Keywords] NOTNLM ; Endoplasmic reticulum / Mitochondria / Multiple sclerosis / Unfolded protein response (UPR)
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6. Sabatino JJ Jr, Newsome SD: Stiff person syndrome masquerading as multiple sclerosis. J Neurol Sci; 2017 Jan 15;372:297-299
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] Stiff person syndrome masquerading as multiple sclerosis.
  • BACKGROUND: Stiff person syndrome (SPS) is a rare neuroimmunological disorder presenting with a wide variety of signs and symptoms that mimic neuro-inflammatory diseases, such as multiple sclerosis (MS), thus delaying diagnosis.
  • METHODS: We performed a retrospective chart review of over 100 patients with SPS who were treated at Johns Hopkins Hospital and identified five patients previously diagnosed with MS.
  • Mean time to SPS diagnosis was 5.5years.
  • They presented with typical SPS features (axial/leg spasms, torso rigidity, hyperlordosis, and gait instability) as well as atypical features (hemiparesis, hemisensory dysfunction, fine motor impairment) and were all initially given a diagnosis of MS.
  • SPS diagnosis was supported by elevated anti-glutamic acid decarboxylase (GAD65) antibodies in each patient.
  • Two patients were treated with disease-modifying therapies for MS before being diagnosed with SPS.
  • Following diagnosis with SPS, the patients were treated with varying combinations of immunosuppressants and symptomatic therapies resulting in stabilization or improvement in four of the patients.
  • CONCLUSION: We present five patients with SPS, who were initially thought to have MS, including one patient treated with three different MS therapies due to "disease progression".
  • These cases demonstrate the need to consider less common neuroimmunological disorders, such as SPS, especially in patients with atypical features for MS.
  • [MeSH-major] Multiple Sclerosis / physiopathology. Stiff-Person Syndrome / diagnosis

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  • [Copyright] Copyright © 2016 Elsevier B.V. All rights reserved.
  • (PMID = 28017232.001).
  • [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
  • [Chemical-registry-number] 0 / Autoantibodies; EC 4.1.1.15 / Glutamate Decarboxylase; EC 4.1.1.15 / glutamate decarboxylase 2
  • [Keywords] NOTNLM ; Multiple sclerosis (major topic) / Neuroinflammatory diseases (major topic) / Stiff person syndrome (major topic)
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7. Shawkatová I, Javor J, Párnická Z, Bucová M, Čopíková-Cudráková D, Michalík J, Gmitterová K, Čierny D, Buc M, Ďurmanová V: Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients. Folia Microbiol (Praha); 2017 Jul;62(4):287-293
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients.
  • Infiltration of immune cells into CNS is one of the essential events in multiple sclerosis (MS) development.
  • Therefore, the ICAM1 gene containing two important single-nucleotide polymorphisms (SNPs) belongs to candidate loci with possible involvement in MS susceptibility and/or severity.
  • The objective of our case-control study was to analyze the association of two functional ICAM1 polymorphisms rs1799969 (or G241R) and rs5498 (or K469E) with susceptibility to MS and evaluate their influence on the age at disease onset, severity, neurological disability and progression rate.
  • Two hundred forty-eight MS subjects (mean 39.2 years) and 208 age-matched controls (mean 35.6 years) were involved in the study.
  • Presence of the rs3135388 polymorphism tagging the major MS risk allele HLA-DRB1*15:01 allele was determined as well.
  • Our analysis revealed no statistically significant association of ICAM1 polymorphisms with risk of MS development in the Slovak population.
  • Stratification of study cohorts by gender, age at onset and presence of the HLA-DRB1*15:01 risk allele showed only moderate changes.
  • Correlation of clinical findings as age at onset, Kurtzke Expanded Disability Status Scale, Multiple Sclerosis Severity Score and progression index with ICAM1 genotypes in MS patients revealed no significant association; however, patients with earlier onset of MS showed slightly higher frequencies of the homozygous G allele at rs5498 in comparison to other genotypes (P = 0.04), suggesting that GG carriers tend to induce MS at an earlier age.
  • [MeSH-major] Intercellular Adhesion Molecule-1 / genetics. Multiple Sclerosis / genetics. Polymorphism, Single Nucleotide
  • [MeSH-minor] Adult. Alleles. Case-Control Studies. Female. Genetic Predisposition to Disease. Genotype. HLA-DRB1 Chains / genetics. Humans. Male. Middle Aged. Slovakia. Young Adult

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  • (PMID = 28130760.001).
  • [ISSN] 1874-9356
  • [Journal-full-title] Folia microbiologica
  • [ISO-abbreviation] Folia Microbiol. (Praha)
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / HLA-DRB1 Chains; 126547-89-5 / Intercellular Adhesion Molecule-1
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8. Zhou Y, Fang L, Peng L, Qiu W: TLR9 and its signaling pathway in multiple sclerosis. J Neurol Sci; 2017 Feb 15;373:95-99
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] TLR9 and its signaling pathway in multiple sclerosis.
  • Multiple sclerosis (MS) is a chronic autoimmune disease of the central nervous system characterized by axonal destruction and demyelination, which etiology and immunopathogenesis still remains uncertain.
  • Although several lines of evidence show that myelin-reactive T cells play an essential role in the pathogenesis of MS, recent findings have pointed to the relevance of innate immune system such as Toll-like receptors (TLRs).
  • In this article, we discuss the role of TLR9 and its signaling pathway in the development of MS and present some therapeutic strategies based on in vivo and in vitro findings.
  • [MeSH-major] Multiple Sclerosis / metabolism. Toll-Like Receptor 9 / metabolism
  • [MeSH-minor] Animals. Humans. Signal Transduction

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  • [Copyright] Copyright © 2016 Elsevier B.V. All rights reserved.
  • (PMID = 28131238.001).
  • [ISSN] 1878-5883
  • [Journal-full-title] Journal of the neurological sciences
  • [ISO-abbreviation] J. Neurol. Sci.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Toll-Like Receptor 9
  • [Keywords] NOTNLM ; Multiple sclerosis / NF-κB / TLR9
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9. Traboulsee AL, Sadovnick AD, Encarnacion M, Bernales CQ, Yee IM, Criscuoli MG, Vilariño-Güell C: Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis. Hum Genet; 2017 Jun;136(6):705-714
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] Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.
  • Several single-gene disorders with clinical and radiological characteristics similar to those observed in multiple sclerosis (MS) patients have been described.
  • To evaluate whether this phenotypic overlap can be ascribed to a common genetic etiology, 28 genes known to present pathogenic mutations for 24 of these disorders were sequenced in 270 MS patients.
  • All identified variants were genotyped in 2131 MS cases and 830 healthy controls, and those exclusively observed in patients were assessed for segregation within families.
  • This analysis identified 9 rare variants in 6 genes segregating with disease in 13 families.
  • Four different mutations were identified in CYP27A1, including a reported pathogenic mutation for cerebrotendinous xanthomatosis (p.R405W), which was observed in six patients from a multi-incident family, three diagnosed with MS, two with an undefined neurological disease and one seemingly healthy.
  • A LYST p.V1678A and a PDHA1 p.K387Q mutation were both observed in five MS patients from three separate multi-incident families.
  • In addition, CLCN2 p.V174G, GALC p.D162E and POLG p.R361G were each identified in two MS patients from one family.
  • This study suggests a shared genetic etiology between MS and the characterized single-gene disorders, and highlights cholesterol metabolism and the synthesis of oxysterols as important biological mechanisms for familial MS.
  • [MeSH-major] Genetic Diseases, Inborn. Multiple Sclerosis / genetics

  • Genetic Alliance. consumer health - Multiple Sclerosis.
  • MedlinePlus Health Information. consumer health - Genetic Disorders.
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  • (PMID = 28337550.001).
  • [ISSN] 1432-1203
  • [Journal-full-title] Human genetics
  • [ISO-abbreviation] Hum. Genet.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] EC 1.14.15.15 / CYP27A1 protein, human; EC 1.14.15.15 / Cholestanetriol 26-Monooxygenase
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10. Zandee SEJ, O'Connor RA, Mair I, Leech MD, Williams A, Anderton SM: IL-10-producing, ST2-expressing Foxp3<sup>+</sup> T cells in multiple sclerosis brain lesions. Immunol Cell Biol; 2017 May;95(5):484-490

  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] IL-10-producing, ST2-expressing Foxp3<sup>+</sup> T cells in multiple sclerosis brain lesions.
  • CD4<sup>+</sup>Foxp3<sup>+</sup> T regulatory (Treg) cells provide a key defence against inflammatory disease, but also have an ability to produce pro-inflammatory cytokines.
  • The evidence for these two possibilities in multiple sclerosis (MS) is controversial.
  • We show that Foxp3<sup>+</sup> cells in the brains of MS patients predominantly produce interleukin-10 (IL-10) and show high expression of the IL-33 receptor ST2 (associated with potent Treg function), indicating that Treg in the inflamed brain maintain their suppressive function.

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  • (PMID = 28169287.001).
  • [ISSN] 1440-1711
  • [Journal-full-title] Immunology and cell biology
  • [ISO-abbreviation] Immunol. Cell Biol.
  • [Language] eng
  • [Grant] United Kingdom / Chief Scientist Office / / CSO/ ETM/163; United Kingdom / Medical Research Council / / MRC/ G0901697
  • [Publication-type] Journal Article
  • [Publication-country] England
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