Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome
| العنوان: | Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome |
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| المؤلفون: | Diana Rodriguez, Vincent Bondet, Alexandre Belot, Luis Seabra, Claude Cances, Isabelle Desguerre, Virginie Levrat, Diane Doummar, Elodie Henry, Marie Hully, Mathieu P Rodero, Isabelle Melki, Magalie Barth, Alba Llibre, Agathe Roubertie, François-Guillaume Debray, Jean-Marc Tréluyer, Michaela Semeraro, Valérie Jolaine, Nathalie Boddaert, Pierre Meyer, Christine Barnerias, Carolina Uggenti, Jinmi Baek, Gillian I. Rice, Flore Rozenberg, Darragh Duffy, Stéphane Blanche, Marie-Louise Frémond, Florence Renaldo, Naïm Bouazza, Hendy Abdoul, Leo A. H. Zeef, Mame N Sambe, Candice Meyzer, Yanick J. Crow, Marie-Christine Nougues, Alice Lepelley, Naoki Kitabayashi |
| المساهمون: | University of Manchester [Manchester], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Université Paris Descartes - Paris 5 (UPD5), Institut Pasteur [Paris] (IP), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Université de Lyon, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Liège, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Annecy-Genevois [Saint-Julien-en-Genevois], AP-HP Hôpital universitaire Robert-Debré [Paris], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Robert Debré, Sorbonne Université (SU), University of Edinburgh, Supported by grants from the European Leukodystrophy Association (ELA 2012-008l1), the European Research Council (GA 309449 and 786142-E-T1IFNs), ERA-NET Neuron (MR/M501803/1), and the French National Research Agency (ANR-10-IAHU-01 and CE17001002). Medications were provided by GlaxoSmithKline and ViiV Healthcare., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 309449,EC:FP7:ERC,ERC-2012-StG_20111109,T1-IFN(2013), Laboratoire de Chimie et de Biochimie Pharmacologiques et Toxicologiques (LCBPT - UMR 8601), Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Institut Pasteur [Paris], CHU Toulouse [Toulouse], Vougny, Marie-Christine, Instituts Hospitalo-Universitaires - Institut Hospitalo-Universitaire Imagine - - Imagine2010 - ANR-10-IAHU-0001 - IAHU - VALID, Definition and characterization of type I interferonopathies - T1-IFN - - EC:FP7:ERC2013-03-01 - 2018-02-28 - 309449 - VALID |
| المصدر: | New England Journal of Medicine New England Journal of Medicine, 2018, 379 (23), pp.2275-2277. ⟨10.1056/NEJMc1810983⟩ Rice, G I, Meyzer, C, Bouazza, N, Hully, M, Boddaert, N, Semeraro, M, Zeef, L A H, Rozenberg, F, Bondet, V, Duffy, D, Llibre, A, Baek, J, Sambe, M N, Henry, E, Jolaine, V, Barnerias, C, Barth, M, Belot, A, Cances, C, Debray, F-G, Doummar, D, Frémond, M-L, Kitabayashi, N, Lepelley, A, Levrat, V, Melki, I, Meyer, P, Nougues, M-C, Renaldo, F, Rodero, M P, Rodriguez, D, Roubertie, A, Seabra, L, Uggenti, C, Abdoul, H, Treluyer, J-M, Desguerre, I, Blanche, S & Crow, Y J 2018, ' Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome ', New England Journal of Medicine, vol. 379, no. 23, pp. 2275-7 . https://doi.org/10.1056/NEJMc1810983Test New England Journal of Medicine, Massachusetts Medical Society, 2018, 379 (23), pp.2275-2277. ⟨10.1056/NEJMC1810983⟩ New England Journal of Medicine, Massachusetts Medical Society, 2018, 379 (23), pp.2275-2277. ⟨10.1056/NEJMc1810983⟩ |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | 0301 basic medicine, [SDV]Life Sciences [q-bio], Gene Expression, Pilot Projects, Nervous System Malformations/drug therapy, Medicine, MESH: Interferons, ComputingMilieux_MISCELLANEOUS, Cerebrovascular Circulation/drug effects, MESH: Zidovudine, General Medicine, MESH: Cerebrovascular Circulation, 3. Good health, Drug Combinations, MESH: Dideoxynucleosides, Lamivudine, Cerebrovascular Circulation, Autoimmune Diseases of the Nervous System/drug therapy, Reverse Transcriptase Inhibitors, [SDV.IMM]Life Sciences [q-bio]/Immunology, France, Zidovudine, MESH: Lamivudine, Interferons/genetics, Reverse Transcriptase Inhibitors/therapeutic use, MESH: Gene Expression, [SDV.IMM] Life Sciences [q-bio]/Immunology, Zidovudine/therapeutic use, Encephalopathy, Gene Expression/drug effects, Nervous System Malformations, MESH: Nervous System Malformations, 03 medical and health sciences, Autoimmune Diseases of the Nervous System, Humans, Lamivudine/therapeutic use, MESH: Drug Combinations, MESH: Humans, business.industry, Dideoxynucleosides/therapeutic use, medicine.disease, MESH: Pilot Projects, Virology, Dideoxynucleosides, Reverse transcriptase, MESH: Autoimmune Diseases of the Nervous System, MESH: France, 030104 developmental biology, Nucleic acid, Aicardi–Goutières syndrome, Interferons, MESH: Reverse Transcriptase Inhibitors, business |
| الوصف: | International audience; To the Editor:The Aicardi–Goutières syndrome is a genetic encephalopathy that is associated with childhood illness and death. The syndrome is hypothesized to be due to misidentification of self-derived nucleic acids as nonself and the subsequent induction of a type I interferon–mediated response that simulates an antiviral reaction.1 Endogenous retroelements, mobile genetic elements that can be transcribed to RNA and then to DNA by reverse transcription, constitute 40% of the human genome and represent a potential source of immunostimulatory nucleic acid in patients with this syndrome.2 |
| وصف الملف: | application/pdf |
| تدمد: | 0028-4793 1533-4406 |
| DOI: | 10.1056/NEJMc1810983 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::771251eb6b388f0e1e12dad20dec87f3Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....771251eb6b388f0e1e12dad20dec87f3 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00284793 15334406 |
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| DOI: | 10.1056/NEJMc1810983 |