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Items 1 to 10 of about 325650
1. Ayuso T, Aznar P, Soriano L, Olaskoaga A, Roldán M, Otano M, Ajuria I, Soriano G, Lacruz F, Mendioroz M: Vitamin D receptor gene is epigenetically altered and transcriptionally up-regulated in multiple sclerosis. PLoS One; 2017;12(3):e0174726
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] Vitamin D receptor gene is epigenetically altered and transcriptionally up-regulated in multiple sclerosis.
  • OBJECTIVE: Vitamin D deficiency has been linked to increased risk of multiple sclerosis (MS) and poor outcome.
  • However, the specific role that vitamin D plays in MS still remains unknown.
  • In order to identify potential mechanisms underlying vitamin D effects in MS, we profiled epigenetic changes in vitamin D receptor (VDR) gene to identify genomic regulatory elements relevant to MS pathogenesis.
  • METHODS: Human T cells derived from whole blood by negative selection were isolated in a set of 23 relapsing-remitting MS (RRMS) patients and 12 controls matched by age and gender.
  • CONCLUSIONS: An alternative promoter of the VDR gene shows altered DNA methylation levels in patients with multiple sclerosis, and it is associated with VDR mRNA upregulation.
  • This locus may represent a candidate regulatory element in the genome relevant to MS pathogenesis.
  • [MeSH-major] Epigenesis, Genetic. Multiple Sclerosis / genetics. Receptors, Calcitriol / genetics. Transcriptional Activation. Up-Regulation
  • [MeSH-minor] Adult. CpG Islands / genetics. DNA Methylation. Female. Humans. Male. Middle Aged. Multiple Sclerosis, Relapsing-Remitting / blood. Multiple Sclerosis, Relapsing-Remitting / genetics. Promoter Regions, Genetic / genetics. RNA, Messenger / genetics. RNA, Messenger / metabolism. Reverse Transcriptase Polymerase Chain Reaction. Vitamin D / blood. Young Adult

  • Genetic Alliance. consumer health - Multiple Sclerosis.
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  • (PMID = 28355272.001).
  • [ISSN] 1932-6203
  • [Journal-full-title] PloS one
  • [ISO-abbreviation] PLoS ONE
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / RNA, Messenger; 0 / Receptors, Calcitriol; 0 / VDR protein, human; 1406-16-2 / Vitamin D
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2. 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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3. 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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  • [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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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. 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.
  • [MeSH-major] Endoplasmic Reticulum Stress / physiology. Mitochondrial Diseases / etiology. Multiple Sclerosis / complications. Neurons / metabolism. Neurons / ultrastructure. rab GTP-Binding Proteins / metabolism
  • [MeSH-minor] Animals. Apoptosis / physiology. Brain / cytology. Calnexin / metabolism. Cells, Cultured. Cytokines / genetics. Cytokines / metabolism. Encephalomyelitis, Autoimmune, Experimental / pathology. Female. Fetus. Humans. Male. Membrane Glycoproteins / metabolism. Mice. Middle Aged. Nerve Tissue Proteins / genetics. Nerve Tissue Proteins / metabolism. Transcription Factor CHOP / metabolism. Vesicular Transport Proteins / metabolism

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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
  • [Chemical-registry-number] 0 / Cytokines; 0 / DDIT3 protein, human; 0 / Membrane Glycoproteins; 0 / Nerve Tissue Proteins; 0 / PACS2 protein, human; 0 / Vesicular Transport Proteins; 0 / endoplasmin; 139873-08-8 / Calnexin; 147336-12-7 / Transcription Factor CHOP; EC 3.6.1.- / Rab32 protein, human; EC 3.6.5.2 / rab GTP-Binding Proteins
  • [Keywords] NOTNLM ; Endoplasmic reticulum / Mitochondria / Multiple sclerosis / Unfolded protein response (UPR)
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6. 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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  • [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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7. 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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8. Matute-Blanch C, Río J, Villar LM, Midaglia L, Malhotra S, Álvarez-Cermeño JC, Vidal-Jordana A, Montalban X, Comabella M: Chitinase 3-like 1 is associated with the response to interferon-beta treatment in multiple sclerosis. J Neuroimmunol; 2017 Feb 15;303:62-65
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Chitinase 3-like 1 is associated with the response to interferon-beta treatment in multiple sclerosis.
  • Chitinase 3-like 1 (CHI3L1) plays a prognostic role in patients with multiple sclerosis (MS).
  • Serum CHI3L1 levels were measured by ELISA in 117 relapsing-remitting MS (RRMS) patients, 76 IFNβ-treated and 41 GA-treated patients.
  • [MeSH-major] Chitinase-3-Like Protein 1 / blood. Interferon-beta / therapeutic use. Multiple Sclerosis, Relapsing-Remitting / blood. Multiple Sclerosis, Relapsing-Remitting / drug therapy

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  • [Copyright] Copyright © 2016 Elsevier B.V. All rights reserved.
  • (PMID = 28063616.001).
  • [ISSN] 1872-8421
  • [Journal-full-title] Journal of neuroimmunology
  • [ISO-abbreviation] J. Neuroimmunol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Biomarkers; 0 / CHI3L1 protein, human; 0 / Chitinase-3-Like Protein 1; 5M691HL4BO / Glatiramer Acetate; 77238-31-4 / Interferon-beta
  • [Keywords] NOTNLM ; Biomarkers / Chitinase 3-like 1 / Glatiramer acetate / Interferon-beta / Multiple sclerosis
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9. Algahtani H, Marzouk Y, Algahtani R, Salman S, Shirah B: Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family. J Neurol Sci; 2017 Jan 15;372:97-100
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family.
  • A mutation in the synaptic nuclear envelope protein 1 (SYNE1) gene that is located on chromosome 6p25 results in premature termination of the protein.
  • It was first reported in 2007 as the first identified gene responsible for a recessively inherited pure cerebellar ataxia.
  • In this article, we are presenting two brothers with ARCA1 who were misdiagnosed and treated as multiple sclerosis for more than a decade.
  • We are not only presenting a rare mutation in a Saudi family, but we are also expanding on the heterogeneity of the clinical presentation of this disorder and elaborating on the pathophysiology of neurological involvement.
  • The clinical and radiological spectrum of ARCA1 indicate that this disease is more than a pure cerebellar degeneration.
  • ARCA1 should be considered in the differential diagnosis of patients diagnosed with MS especially in the presence of strong family history.
  • The disease is gradually progressive, and clinical features are atypical for MS.
  • Applying diagnostic criteria for MS is extremely important for confirming or excluding the diagnosis.
  • Detailed history and physical examination are of paramount importance to score the final diagnosis.
  • [MeSH-minor] Brain / diagnostic imaging. DNA Mutational Analysis. Humans. Magnetic Resonance Imaging. Male. Saudi Arabia. Spinal Cord / diagnostic imaging. Young Adult

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  • [Copyright] Copyright © 2016 Elsevier B.V. All rights reserved.
  • (PMID = 28017257.001).
  • [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 / Nerve Tissue Proteins; 0 / Nuclear Proteins; 0 / SYNE1 protein, human; Autosomal Recessive Cerebellar Ataxia Type 1
  • [Keywords] NOTNLM ; Autosomal Recessive Cerebellar Ataxia type 1 (major topic) / Genetic mutation (major topic) / Multiple sclerosis (major topic) / SYNE1 (major topic) / White matter disease (major topic)
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10. Bermúdez-Morales VH, Fierros G, Lopez RL, Martínez-Nava G, Flores-Aldana M, Flores-Rivera J, Hernández-Girón C: Vitamin D receptor gene polymorphisms are associated with multiple sclerosis in Mexican adults. J Neuroimmunol; 2017 May 15;306:20-24
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] Vitamin D receptor gene polymorphisms are associated with multiple sclerosis in Mexican adults.
  • BACKGROUND: Multiple sclerosis (MS) is the most prevalent autoimmune inflammatory demyelinating disease of the central nervous system (CNS) in young adults.
  • More than 50 genomic regions have been associated with MS susceptibility.
  • Due the important immune-modulating properties of Vitamin D, Vitamin D receptor (VDR) gene polymorphisms - which interfere with the actions of Vitamin D- could be related to increased risk of MS.
  • METHODS: We studied 120 patients fulfilling the McDonald criteria for MS (81 females and 39 males) and 180 healthy unrelated controls, nested in a case-Control study, and were recruited from the National Institute of Neurology and Neurosurgery, Manuel Velasco Suárez in Mexico City.
  • Genotyping of VDR gene polymorphisms BsmI (rs1544410) and TaqI (rs731236) was performed using TaqMan SNP Genotyping Assay which consists of a predesigned mix of unlabeled polymerase chain reaction (PCR) primers and the TaqMan minor groove binding group (MGB) probe (FAM dye-labeled).
  • RESULTS: There was a statistically significant, positive association between MS and the T/T genotype of BsmI polymorphism (OR=4.15; 95%CI 1.83-9.39), showing also a significant positive trend across genotypes (p<0.01).
  • When evaluating the association by alleles, the statistically significant positive association seen by genotypes was confirmed in the T allele carriers, showing an OR of 1.83 (95%CI 1.27-2.65) for MS.
  • CONCLUSIONS: We found a positive association of the genetic VDR polymorphisms TaqI (rs731236) and BsmI (rs1544410), with the risk of MS in a sample of Mexican adults.
  • [MeSH-major] Genetic Predisposition to Disease / genetics. Multiple Sclerosis / genetics. Polymorphism, Single Nucleotide / genetics. Receptors, Calcitriol / genetics
  • [MeSH-minor] Adolescent. Adult. Aged. Case-Control Studies. Female. Gene Frequency. Genetic Association Studies. Genotype. Humans. Male. Mexico. Middle Aged. Young Adult

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  • [Copyright] Copyright © 2017 Elsevier B.V. All rights reserved.
  • (PMID = 28385183.001).
  • [ISSN] 1872-8421
  • [Journal-full-title] Journal of neuroimmunology
  • [ISO-abbreviation] J. Neuroimmunol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Receptors, Calcitriol
  • [Keywords] NOTNLM ; Mexico / Multiple sclerosis / Vitamin D / Vitamin D receptor (VDR) gene polymorphisms
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