المؤلفون: Chinese Alliance of Pediatric Rheumatic & Immunologic Diseases, Chinese Pharmacists Association Rare Diseases Medication Working Committee

المصدر: 罕见病研究, Vol 3, Iss 4, Pp 471-478 (2024)

مصطلحات موضوعية: type ⅰ interferonopathy, diagnosis and treatment, consensus, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2097-0501

URL الوصول: https://doaj.org/article/a17c85f15ce84c21837a4207ecc144f6

المؤلفون: Konstantinos Drougkas, Roubini Smerla, Charalampos Skarlis, Clio P. Mavragani

المصدر: Journal of Molecular Pathology, Vol 4, Iss 4, Pp 294-306 (2023)

مصطلحات موضوعية: STING-associated vasculopathy with onset in infancy (SAVI), type I interferonopathy, interstitial lung disease (ILD), vasculopathy, Janus kinase inhibitors (JAK inhibitors), Pathology, RB1-214

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2673-5261/4/4/24; https://doaj.org/toc/2673-5261

URL الوصول: https://doaj.org/article/f95e9d42783f4d3f86c692b2b6d4e49e

المؤلفون: Jianqiang Wu, Qing Zhou, Hua Zhou, Meiping Lu

المصدر: Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: STING-associated vasculopathy with onset in infancy (SAVI), Type I interferonopathy, Janus kinase inhibitors (JAK inhibitors), Interstitial lung Disease (ILD), Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1546-0096

URL الوصول: https://doaj.org/article/a031b74668144fef85ddc8fda38f9760

المؤلفون: Sarah E. Withers, Charlie F. Rowlands, Victor S. Tapia, Frances Hedley, Ioana-Emilia Mosneag, Siobhan Crilly, Gillian I. Rice, Andrew P. Badrock, Andrew Hayes, Stuart M. Allan, Tracy A. Briggs, Paul R. Kasher

المصدر: Frontiers in Immunology, Vol 14 (2023)

مصطلحات موضوعية: Aicardi Goutières syndrome, cholesterol, zebrafish disease models, type I interferonopathy, SAMHD1, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1100967/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/21996985323c40e7b3c222331fcef159

المؤلفون: Zhu, Gaofeng, Badonyi, Mihaly, Franklin, Lina, Seabra, Luis, Rice, Gillian I., Anne-Boland, Auge, Deleuze, Jean-François, El Chehadeh, Salima, Anheim, Mathieu, de Saint-Martin, Anne, Pellegrini, Sandra, Marsh, Joseph A., Crow, Yanick J., El-Daher, Marie-Therese

المساهمون: MRC Human Genetics Unit, University of Edinburgh (Edin.)-Western General Hospital, Signalisation des Cytokines - Cytokine Signaling, Institut Pasteur Paris (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Manchester Manchester, Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Institut de génétique médicale d’Alsace (IGMA), Les Hôpitaux Universitaires de Strasbourg (HUS), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie Strasbourg, Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Nouvel Hôpital Civil de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg (UNISTRA), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010), European Project: 955576,H2020-MSCA-ITN-2020,INFLANET(2021), European Project: 786142,ERC-2017-ADG,E-T1IFNs(2018)

المصدر: ISSN: 0271-9142.

مصطلحات موضوعية: Type I interferonopathy, Interferon stimulated genes, STAT2 · USP18, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN]

Relation: info:eu-repo/semantics/altIdentifier/pmid/36753016; info:eu-repo/grantAgreement//955576/EU/Training European Experts in Inflammation: from the molecular players to animal models and the bedside/INFLANET; info:eu-repo/grantAgreement// 786142/EU/Elaboration of the type I interferonopathies/E-T1IFNs; PUBMED: 36753016; PUBMEDCENTRAL: PMC10110676

الاتاحة: https://cea.hal.science/cea-04334216
https://cea.hal.science/cea-04334216v1/document
https://cea.hal.science/cea-04334216v1/file/s10875-023-01445-3.pdf
https://doi.org/10.1007/s10875-023-01445-3

المؤلفون: Gábor Zsurka, Maximilian L. T. Appel, Maximilian Nastaly, Kerstin Hallmann, Niels Hansen, Daniel Nass, Tobias Baumgartner, Rainer Surges, Gunther Hartmann, Eva Bartok, Wolfram S. Kunz

المصدر: Cells; Volume 12; Issue 2; Pages: 227

مصطلحات موضوعية: epilepsy, mental retardation, type I interferonopathy, neuroinflammation, transcription factor

وصف الملف: application/pdf

Relation: Cellular Immunology; https://dx.doi.org/10.3390/cells12020227

الاتاحة: https://doi.org/10.3390/cells12020227

المؤلفون: Barney Viengkhou, Melanie Y. White, Stuart J. Cordwell, Iain L. Campbell, Markus J. Hofer

المصدر: Journal of Neuroinflammation, Vol 18, Iss 1, Pp 1-20 (2021)

مصطلحات موضوعية: Interferon, Microglia, Astrocyte, Phosphoproteomics, Cerebral type I interferonopathy, Neurodegenerative disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1742-2094

URL الوصول: https://doaj.org/article/faf5fa9882874923b6df6195aec0c1e8

المؤلفون: Petro Starokadomskyy

المصدر: Frontiers in Cellular and Infection Microbiology, Vol 12 (2022)

مصطلحات موضوعية: interferon, Ifni, pattern recognition receptor (PRR), type I interferonopathy, RIG-I antiviral, cGAS sensor, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcimb.2022.991898/full; https://doaj.org/toc/2235-2988

URL الوصول: https://doaj.org/article/61c0d7fdd93241539e9dae4c0fb6b2dd

المؤلفون: Lee, Sumin, Hirota, Keiji, Schuette, Verena, Fujita, Takashi, Kato, Hiroki

المساهمون: 廣田, 圭司, 藤田, 尚志

مصطلحات موضوعية: MDA5, Type I Interferonopathy, Regulatory T cells, Experimental colitis

Relation: http://hdl.handle.net/2433/282775; Biochemical and Biophysical Research Communications; 629; 171; 175

الاتاحة: http://hdl.handle.net/2433/282775

المؤلفون: Alice Lepelley, Timothy Wai, Yanick J. Crow

المصدر: Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: type I interferonopathy, mitochondrial disease, type I interferon, autoinflammation, mitochondria, mtDNA, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.729763/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/5325358eabfe44d9bf283545de62b8cd

المؤلفون: Holly A. Rutherford, Paul R. Kasher, Noémie Hamilton

المصدر: Frontiers in Immunology, Vol 11 (2021)

مصطلحات موضوعية: type I interferonopathy, Aicardi-Goutières syndrome, autoimmune disease, RNASET2, zebrafish, mouse, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2020.623650/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/ec92af6d6bda474a8c5c58f3270c73d1

المؤلفون: Frémond, Marie-Louise, Hadchouel, Alice, Berteloot, Laureline, Melki, Isabelle, Bresson, Violaine, Barnabei, Laura, Jeremiah, Nadia, Belot, Alexandre, Bondet, Vincent, Brocq, Olivier, Chan, Damien, Dagher, Rawane, Dubus, Jean-Christophe, Duffy, Darragh, Feuillet-Soummer, Séverine, Fusaro, Mathieu, Gattorno, Marco, Insalaco, Antonella, Jeziorski, Eric, Kitabayashi, Naoki, Lopez-Corbeto, Mireia, Mazingue, Françoise, Morren, Marie-Anne, Rice, Gillian, Rivière, Jacques, Seabra, Luis, Sirvente, Jérôme, Soler-Palacin, Pere, Stremler-Le Bel, Nathalie, Thouvenin, Guillaume, Thumerelle, Caroline, van Aerde, Eline, Volpi, Stefano, Willcocks, Sophie, Wouters, Carine, Breton, Sylvain, Molina, Thierry, Bader-Meunier, Brigitte, Moshous, Despina, Fischer, Alain, Blanche, Stéphane, Rieux-Laucat, Frédéric, Crow, Yanick, Neven, Bénédicte

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service d'immuno-hématologie pédiatrique CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Pneumologie Allergologie CHU Necker, Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Service de radiologie pédiatrique CHU Necker, AP-HP Hôpital universitaire Robert-Debré Paris, Urgences pédiatriques Hôpital de la Timone - APHM, Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Timone CHU - APHM (TIMONE), Immunité et cancer (U932), Institut Curie Paris -Institut National de la Santé et de la Recherche Médicale (INSERM), Hospices Civils de Lyon (HCL), Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases CIRI, Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon), Université de Lyon-Université de Lyon-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon), Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur Paris (IP), Immunologie Translationnelle - Translational Immunology lab, Hôpital Princesse Grace Monaco, Women’s and Children’s Hospital Adelaide, CHU Notre Dame des Secours Jbeil, Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) Hôpital de la Timone - APHM, Hôpital de la Timone CHU - APHM (TIMONE), Centre Chirurgical Marie Lannelongue (CCML), Hôpital Necker - Enfants Malades AP-HP, IRCCS Istituto Giannina Gaslini Genoa, Italy, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Pathogenesis and Control of Chronic and Emerging Infections (PCCEI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Université des Antilles (UA)-Etablissement français du don du sang Montpellier, Vall d'Hebron University Hospital Barcelona, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), University Hospitals Leuven Leuven, Centre Hospitalier Universitaire Vaudois = Lausanne University Hospital Lausanne (CHUV), Manchester Academic Health Science Centre (MAHSC), University of Manchester Manchester, Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona = Autonomous University of Barcelona = Universidad Autónoma de Barcelona (UAB), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Queensland Children's Hospital (QCH), Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Service de pathologie CHU Necker, Collège de France (CdF (institution)), MRC Institute of Genetics and Molecular Medicine Edinburgh (IGMM), University of Edinburgh (Edin.)-Medical Research Council, M.-L. Frémond received a grant from the Institut National de la Santé et de la Recherche Médicale (reference: 000427993). Y. J. Crow acknowledges the European Research Council (GA309449 and 786142-E-T1IFNs) and a state subsidy managed by the National Research Agency (France) under the “Investments for the Future” program bearing the reference ANR-10-IAHU-01. Y. J. Crow and D. Duffy acknowledge the National Research Agency (France) (grant CE17001002)., The authors wish to thank the patients and their families for their cooperation in this study. The authors are grateful to Elvira Duchesne (NP) and Samira Plassart (PhD) for their very helpful technical assistance. They thank Thomas Blauwblomme (MD, PhD, Neurosurgery Unit, Necker Hospital, Paris, France) for providing CSF from children with idiopathic hydrocephalus., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 309449,EC:FP7:ERC,ERC-2012-StG_20111109,T1-IFN(2013)

المصدر: ISSN: 2213-2198 ; EISSN: 2213-2201.

مصطلحات موضوعية: Interstitial lung disease, JAK inhibitors, Lymphopenia, Polyarthritis, STING1, Stimulator of interferon genes, Type I interferonopathy, Vasculopathy, [SDV.IMM.ALL]Life Sciences [q-bio]/Immunology/Allergology

Relation: info:eu-repo/semantics/altIdentifier/pmid/33217613; info:eu-repo/grantAgreement/EC/FP7/309449/EU/Definition and characterization of type I interferonopathies/T1-IFN; PUBMED: 33217613

الاتاحة: https://hal.umontpellier.fr/hal-03228789
https://hal.umontpellier.fr/hal-03228789v1/document
https://hal.umontpellier.fr/hal-03228789v1/file/Overview-of-STING-Associated.pdf
https://doi.org/10.1016/j.jaip.2020.11.007

المؤلفون: Barney Viengkhou (7374203), Melanie Y. White (1874860), Stuart J. Cordwell (159954), Iain L. Campbell (8735730), Markus J. Hofer (11572981)

مصطلحات موضوعية: Genetics, Interferon, Microglia, Astrocyte, Phosphoproteomics, Cerebral type I interferonopathy, Neurodegenerative disease

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_A_novel_phosphoproteomic_landscape_evoked_in_response_to_type_I_interferon_in_the_brain_and_in_glial_cells/16822720

الاتاحة: https://doi.org/10.6084/m9.figshare.16822720.v1

المؤلفون: Barney Viengkhou (7374203), Melanie Y. White (1874860), Stuart J. Cordwell (159954), Iain L. Campbell (8735730), Markus J. Hofer (11572981)

مصطلحات موضوعية: Genetics, Interferon, Microglia, Astrocyte, Phosphoproteomics, Cerebral type I interferonopathy, Neurodegenerative disease

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_A_novel_phosphoproteomic_landscape_evoked_in_response_to_type_I_interferon_in_the_brain_and_in_glial_cells/16822717

الاتاحة: https://doi.org/10.6084/m9.figshare.16822717.v1

المؤلفون: Sumin Lee, Keiji Hirota, Verena Schuette, Takashi Fujita, Hiroki Kato

المصدر: Biochemical and Biophysical Research Communications. 629:171-175

مصطلحات موضوعية: Interferon-Induced Helicase, IFIH1, MDA5, Biophysics, Cell Biology, Regulatory T cells, Biochemistry, Antiviral Agents, T-Lymphocytes, Regulatory, Experimental colitis, Disease Models, Animal, Mice, Gain of Function Mutation, Interferon Type I, Animals, Type I Interferonopathy, Molecular Biology, RNA, Double-Stranded

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c6764188662a70667cec12b599926f9
http://hdl.handle.net/2433/282775

المؤلفون: Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Van Eyck, Lien, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, Billette de Villemeur, Thierry, Bley, Annette E., Blumkin, Lubov, Boespflug‐Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Drake af Hagelsrum, Gunilla, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Martí Carrera, María Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie Christine, Oppermann, Ilena, Pérez Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodríguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Van Haren, Keith, Tomás Vila, Miguel, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J.

المساهمون: European Commission

مصطلحات موضوعية: Aicardi-Goutieres syndrome, IFIH1, MDA5, Singleton Merten syndrome, type I interferonopathy, function mutation, disease

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/H2020/786142; http://hdl.handle.net/10810/42692

الاتاحة: http://hdl.handle.net/10810/42692
https://doi.org/10.1002/humu.23975

المؤلفون: Rice, G, Park, S, Gavazzi, F, Adang, LA, Ayuk, LA, Van Eyck, L, Seabra, L, Barrea, C, Battini, R, Belot, A, Berg, S, de Villemeur, TB, Bley, AE, Blumkin, L, Boespflug-Tanguy, O, Briggs, TA, Brimble, E, Dale, RC, Darin, N, Debray, F-G, De Giorgis, V, Denecke, J, Doummar, D, af Hagelsrum, GD, Eleftheriou, D, Estienne, M, Fazzi, E, Feillet, F, Galli, J, Hartog, N, Harvengt, J, Heron, B, Heron, D, Kelly, DA, Lev, D, Levrat, V, Livingston, JH, Marti, I, Mignot, C, Mochel, F, Nougues, M-C, Oppermann, I, Perez-Duenas, B, Popp, B, Rodero, MP, Rodriguez, D, Saletti, V, Sharpe, C, Tonduti, D, Vadlamani, G, Van Haren, K, Vila, MT, Vogt, J, Wassmer, E, Wiedemann, A, Wilson, CJ, Zerem, A, Zweier, C, Zuberi, SM, Orcesi, S, Vanderver, AL, Hur, S, Crow, YJ

المصدر: Human Mutation (2020) (In press).

مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10090388/1/Rice_et_al-2020-Human_Mutation.pdf; https://discovery.ucl.ac.uk/id/eprint/10090388/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10090388/1/Rice_et_al-2020-Human_Mutation.pdf
https://discovery.ucl.ac.uk/id/eprint/10090388/

المؤلفون: Yanick J. Crow, Alice Lepelley, Timothy Wai

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Biologie mitochondriale – Mitochondrial biology, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), University of Edinburgh, AL is supported by funding from the European Union’s Horizon 2020 research and innovation program under the Marie Skłodowska-Curie grant agreement No. 892311. YC acknowledges that work relating to this manuscript has received funding from the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation programme (grant agreement No 786142) and State funding from the Agence Nationale de la Recherche under 'Investissements d’avenir' program (ANR-10-IAHU-01). TW acknowledges funding from the ERC (grant agreement No. 714472)., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 786142,ERC-2017-ADG,E-T1IFNs(2018), European Project: 714472,ERC-2016-STG,Mitomorphosis(2017), European Project: 892311,H2020-MSCA-IF-2019,MitoFeron(2020), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut Pasteur [Paris]-Université de Paris (UP)-Centre National de la Recherche Scientifique (CNRS), Lemesle, Marie, Instituts Hospitalo-Universitaires - Institut Hospitalo-Universitaire Imagine - - Imagine2010 - ANR-10-IAHU-0001 - IAHU - VALID, Elaboration of the type I interferonopathies - E-T1IFNs - - ERC-2017-ADG2018-11-01 - 2023-10-31 - 786142 - VALID, Metabolic regulation of mitochondrial morphology - Mitomorphosis - - ERC-2016-STG2017-04-01 - 2022-03-31 - 714472 - VALID, Mitochondrial integrity and autoinflammation - MitoFeron - - H2020-MSCA-IF-20192020-07-01 - 2022-06-30 - 892311 - VALID

المصدر: Frontiers in Immunology
Frontiers in Immunology, 2021, 12, pp.729763. ⟨10.3389/fimmu.2021.729763⟩
Frontiers in Immunology, Frontiers, 2021, 12, pp.729763. ⟨10.3389/fimmu.2021.729763⟩
Frontiers in Immunology, Vol 12 (2021)
Lepelley, A, Wai, T & Crow, Y J 2021, ' Mitochondrial nucleic acid as a driver of pathogenic type I interferon induction in Mendelian disease ', Frontiers in Immunology . https://doi.org/10.3389%2Ffimmu.2021.729763

مصطلحات موضوعية: Mitochondrial DNA, Mitochondrial Diseases, RNA, Mitochondrial, Mini Review, Mitochondrial disease, Immunology, Autoimmunity, Mitochondrion, Biology, DNA, Mitochondrial, 03 medical and health sciences, 0302 clinical medicine, Mitophagy, medicine, Animals, Humans, Immunology and Allergy, innate immunity MINI REVIEW, Inner mitochondrial membrane, Gene, innate immunity, 030304 developmental biology, 0303 health sciences, mtDNA, RNA, type I interferonopathy, RC581-607, autoinflammation, medicine.disease, Immunity, Innate, Up-Regulation, 3. Good health, Cell biology, mitochondria, mitochondrial disease, mtRNA, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Nucleic acid, type I interferon, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Interferons, Immunologic diseases. Allergy, 030217 neurology & neurosurgery, Signal Transduction

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9458279f215523bb96c7cb740a07385
https://hal-pasteur.archives-ouvertes.fr/pasteur-03382218/file/fimmu-12-729763.pdf

المؤلفون: Piccoli C., Bronner N., Gavazzi F., Dubbs H., De Simone M., De Giorgis V., Orcesi S., Fazzi E., Galli J., Masnada S., Tonduti D., Varesio C., Vanderver A., Vossough A., Adang L.

المساهمون: Piccoli, C., Bronner, N., Gavazzi, F., Dubbs, H., De Simone, M., De Giorgis, V., Orcesi, S., Fazzi, E., Galli, J., Masnada, S., Tonduti, D., Varesio, C., Vanderver, A., Vossough, A., Adang, L.

مصطلحات موضوعية: ADAR1, Aicardi-Goutières syndrome, IFIH1, Leukodystrophy, RNASEH2B, SAMHD1, Type I interferonopathy

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/33307271; info:eu-repo/semantics/altIdentifier/wos/WOS:000609214000001; volume:115; firstpage:1; lastpage:6; numberofpages:6; journal:PEDIATRIC NEUROLOGY; http://hdl.handle.net/11571/1421414; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097454871; https://www.sciencedirect.com/science/article/pii/S0887899420303465?via=ihub

الاتاحة: http://hdl.handle.net/11571/1421414
https://doi.org/10.1016/j.pediatrneurol.2020.10.012
https://www.sciencedirect.com/science/article/pii/S0887899420303465?via=ihub

المؤلفون: Olivier Brocq, Pere Soler-Palacín, Jérôme Sirvente, Brigitte Bader-Meunier, Rawane Dagher, Naoki Kitabayashi, Laureline Berteloot, Sophie Willcocks, Nadia Jeremiah, Laura Barnabei, Stefano Volpi, Eline Van Aerde, Sylvain Breton, Damien Chan, Alice Hadchouel, Vincent Bondet, Eric Jeziorski, Despina Moshous, Antonella Insalaco, Jean-Christophe Dubus, Thierry Jo Molina, Isabelle Melki, Nathalie Stremler-Le Bel, Stéphane Blanche, Marie-Anne Morren, Alain Fischer, Mireia Lopez-Corbeto, Gillian I. Rice, Marie-Louise Frémond, Carine Wouters, Yanick J. Crow, Séverine Feuillet-Soummer, Jacques G. Rivière, Françoise Mazingue, Violaine Bresson, Bénédicte Neven, Alexandre Belot, Mathieu Fusaro, Guillaume Thouvenin, Darragh Duffy, Frédéric Rieux-Laucat, Caroline Thumerelle, Luis Seabra, Marco Gattorno

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Pneumologie Allergologie [CHU Necker], Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Service de radiologie pédiatrique [CHU Necker], AP-HP Hôpital universitaire Robert-Debré [Paris], Urgences pédiatriques [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Immunité et cancer (U932), Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Curie [Paris], Hospices Civils de Lyon (HCL), Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases, Centre International de Recherche en Infectiologie - UMR (CIRI), Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris], Immunologie Translationnelle - Translational Immunology lab, Hôpital Princesse Grace [Monaco], Women’s and Children’s Hospital [Adelaide], CHU Notre Dame des Secours [Jbeil], Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE), Centre chirurgical Marie Lannelongue, CHU Necker - Enfants Malades [AP-HP], IRCCS Istituto Giannina Gaslini [Genoa, Italy], IRCCS Ospedale Pediatrico Bambino Gesù [Roma], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Vall d'Hebron University Hospital [Barcelona], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University Hospitals Leuven [Leuven], Lausanne University Hospital, Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester], Vall d’Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Service de Pneumologie pédiatrique [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Queensland Children's Hospital, Partenaires INRAE, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Service de pathologie [CHU Necker], Collège de France (CdF (institution)), MRC Institute of Genetics and Molecular Medicine [Edinburgh] (IGMM), University of Edinburgh-Medical Research Council, M.-L. Frémond received a grant from the Institut National de la Santé et de la Recherche Médicale (reference: 000427993). Y. J. Crow acknowledges the European Research Council (GA309449 and 786142-E-T1IFNs) and a state subsidy managed by the National Research Agency (France) under the 'Investments for the Future' program bearing the reference ANR-10-IAHU-01. Y. J. Crow and D. Duffy acknowledge the National Research Agency (France) (grant CE17001002)., The authors wish to thank the patients and their families for their cooperation in this study. The authors are grateful to Elvira Duchesne (NP) and Samira Plassart (PhD) for their very helpful technical assistance. They thank Thomas Blauwblomme (MD, PhD, Neurosurgery Unit, Necker Hospital, Paris, France) for providing CSF from children with idiopathic hydrocephalus., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), European Project: 309449,EC:FP7:ERC,ERC-2012-StG_20111109,T1-IFN(2013), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP), Centre Chirurgical Marie Lannelongue (CCML), Pathogenesis and Control of Chronic and Emerging Infections (PCCEI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Université des Antilles (UA)-Etablissement français du don du sang [Montpellier], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: Journal of Allergy and Clinical Immunology: In Practice
Journal of Allergy and Clinical Immunology: In Practice, Elsevier, 2021, 9 (2), pp.803-818.e11. ⟨10.1016/j.jaip.2020.11.007⟩
Journal of Allergy and Clinical Immunology: In Practice, 2021, 9 (2), pp.803-818.e11. ⟨10.1016/j.jaip.2020.11.007⟩
Frémond, M-L, Hadchouel, A, Berteloot, L, Melki, I, Bresson, V, Barnabei, L, Jeremiah, N, Belot, A, Bondet, V, Brocq, O, Chan, D, Dagher, R, Dubus, J-C, Duffy, D, Feuillet-Soummer, S, Fusaro, M, Gattorno, M, Insalaco, A, Jeziorski, E, Kitabayashi, N, Lopez-Corbeto, M, Mazingue, F, Morren, M-A, Rice, G I, Rivière, J G, Seabra, L, Sirvente, J, Soler-Palacin, P, Stremler-Le Bel, N, Thouvenin, G, Thumerelle, C, Van Aerde, E, Volpi, S, Willcocks, S, Wouters, C, Breton, S, Molina, T, Bader-Meunier, B, Moshous, D, Fischer, A, Blanche, S, Rieux-Laucat, F, Crow, Y J & Neven, B 2021, ' Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients ', The journal of allergy and clinical immunology. In practice . https://doi.org/10.1016/j.jaip.2020.11.007
The Journal of Allergy and Clinical Immunology: In Practice
Frémond, M-L, Hadchouel, A, Berteloot, L, Melki, I, Bresson, V, Barnabei, L, Jeremiah, N, Belot, A, Bondet, V, Brocq, O, Chan, D, Dagher, R, Dubus, J C, Duffy, D, Feuillet-Soummer, S, Fusaro, M, Gattorno, M, Insalaco, A, Jeziorski, E, Kitabayashi, N, Lopez-Corbeto, M, Mazingue, F, Morren, M-A, Rice, G, Riviere, J G, Seabra, L, Sirvente, J, Soler-Palacin, P, Stremler-Le Bel, N, Thouvenin, G, Thumerelle, C, van Aerde, E, Volpi, S, Willcocks, S, Wouters, C, Breton, S, Molina, T, Bader-Meunier, B, Moshous, D, Fischer, A, Blanche, S, Rieux-Laucat, F, Crow, Y J & Neven, B 2020, ' Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients ', The journal of allergy and clinical immunology. In practice . https://doi.org/10.1016/j.jaip.2020.11.007

مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Late onset, Interstitial lung disease, Vasculopathy, Systemic inflammation, Gastroenterology, Nephropathy, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Lymphopenia, medicine, Immunology and Allergy, Humans, 030212 general & internal medicine, Vascular Diseases, [SDV.IMM.ALL]Life Sciences [q-bio]/Immunology/Allergology, Child, Type I interferonopathy, Immunodeficiency, Inflammation, STING1, JAK inhibitors, business.industry, Infant, Membrane Proteins, medicine.disease, 3. Good health, Polyarthritis, 030228 respiratory system, Failure to thrive, Mutation, Aicardi–Goutières syndrome, medicine.symptom, Stimulator of interferon genes, business, Lung Diseases, Interstitial

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6673a907b3ee5fe2476757333ce0d874
https://hal.umontpellier.fr/hal-03228789