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231226s2023 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2023.109299
|2 doi
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|a pubmed25n1181.xml
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|a (DE-627)NLM354685791
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|a (NLM)36963449
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|a (PII)S1521-6616(23)00078-5
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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| 100 |
1 |
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|a Garau, Jessica
|e verfasserin
|4 aut
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| 245 |
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|a Altered DNA methylation and gene expression predict disease severity in patients with Aicardi-Goutières syndrome
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|c 2023
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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|a Date Completed 25.04.2023
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|a Date Revised 25.04.2023
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.
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|a Aicardi-Goutières Syndrome (AGS) is a rare neuro-inflammatory disease characterized by increased expression of interferon-stimulated genes (ISGs). Disease-causing mutations are present in genes associated with innate antiviral responses. Disease presentation and severity vary, even between patients with identical mutations from the same family. This study investigated DNA methylation signatures in PBMCs to understand phenotypic heterogeneity in AGS patients with mutations in RNASEH2B. AGS patients presented hypomethylation of ISGs and differential methylation patterns (DMPs) in genes involved in "neutrophil and platelet activation". Patients with "mild" phenotypes exhibited DMPs in genes involved in "DNA damage and repair", whereas patients with "severe" phenotypes had DMPs in "cell fate commitment" and "organ development" associated genes. DMPs in two ISGs (IFI44L, RSAD2) associated with increased gene expression in patients with "severe" when compared to "mild" phenotypes. In conclusion, altered DNA methylation and ISG expression as biomarkers and potential future treatment targets in AGS
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|a Journal Article
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|a Research Support, N.I.H., Extramural
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|a Research Support, Non-U.S. Gov't
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|a Aicardi-Goutières syndrome
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|a Biomarker
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|a DNA methylation
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|a ISG
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|a Interferon
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|a Phenotype
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|a RNASEH2B
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|a Interferons
|2 NLM
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| 650 |
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|a 9008-11-1
|2 NLM
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|a Biomarkers
|2 NLM
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|a ribonuclease HII
|2 NLM
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| 650 |
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|a EC 3.1.26.-
|2 NLM
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| 700 |
1 |
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|a Charras, Amandine
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Varesio, Costanza
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Orcesi, Simona
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Dragoni, Francesca
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Galli, Jessica
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Fazzi, Elisa
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Gagliardi, Stella
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Pansarasa, Orietta
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Cereda, Cristina
|e verfasserin
|4 aut
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| 700 |
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|a Hedrich, Christian M
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 249(2023) vom: 28. Apr., Seite 109299
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnas
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| 773 |
1 |
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|g volume:249
|g year:2023
|g day:28
|g month:04
|g pages:109299
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|u http://dx.doi.org/10.1016/j.clim.2023.109299
|3 Volltext
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