Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Isabelle, Rouvet"'
Autor:
Xiaona Sun, Ting Liu, Jun Zhao, Hansong Xia, Jun Xie, Yu Guo, Li Zhong, Mi Li, Qing Yang, Cheng Peng, Isabelle Rouvet, Alexandre Belot, Hong-Bing Shu, Pinghui Feng, Junjie Zhang
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
The enzyme cGAS induces innate immune responses upon recognition of cytosolic DNA. Here, using in vitro and in vivo models, the authors identify DNA-PK as a negative regulator of cGAS signalling.
Externí odkaz:
https://doaj.org/article/4244008ca6074117babe9a1796cb68c8
Autor:
Jérôme Hadjadj, Carla Noemi Castro, Maud Tusseau, Marie-Claude Stolzenberg, Fabienne Mazerolles, Nathalie Aladjidi, Martin Armstrong, Houman Ashrafian, Ioana Cutcutache, Georg Ebetsberger-Dachs, Katherine S. Elliott, Isabelle Durieu, Nicole Fabien, Mathieu Fusaro, Maximilian Heeg, Yohan Schmitt, Marc Bras, Julian C. Knight, Jean-Christophe Lega, Gaetan Lesca, Anne-Laure Mathieu, Marion Moreews, Baptiste Moreira, Audrey Nosbaum, Matthew Page, Cécile Picard, T. Ronan Leahy, Isabelle Rouvet, Ethel Ryan, Damien Sanlaville, Klaus Schwarz, Andrew Skelton, Jean-Francois Viallard, Sebastien Viel, Marine Villard, Isabelle Callebaut, Capucine Picard, Thierry Walzer, Stephan Ehl, Alain Fischer, Bénédicte Neven, Alexandre Belot, Frédéric Rieux-Laucat
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-11 (2020)
SOCS1 is a potent suppressor of JAK-STAT signalling responses to IFNγ and γ-chain cytokines and thereby limits inflammation. Here the authors identify and characterize heterozygous SOCS1 mutations in 10 patients from 5 unrelated families with autoi
Externí odkaz:
https://doaj.org/article/e099b2415a024179917630ee4d4f2ec2
Autor:
Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier
Publikováno v:
PLoS Genetics, Vol 12, Iss 3, p e1005894 (2016)
Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathways during development and tissue homeostasis. In order to id
Externí odkaz:
https://doaj.org/article/80b9228e4b7a4d9cafbccaa2a58ded5c
Autor:
Alexandre Belot, Yu Guo, Pinghui Feng, Jun Xie, Hong-Bing Shu, Hansong Xia, Jun Zhao, Li Zhong, Junjie Zhang, Qing Yang, Ting Liu, Mi Li, Xiaona Sun, Isabelle Rouvet, Cheng Peng
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications
Nature Communications
Upon sensing cytosolic DNA, the enzyme cGAS induces innate immune responses that underpin anti-microbial defenses and certain autoimmune diseases. Missense mutations of PRKDC encoding the DNA-dependent protein kinase (DNA-PK) catalytic subunit (DNA-P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76307f32118be7b6d48c9565bf433751
https://doaj.org/article/4244008ca6074117babe9a1796cb68c8
https://doaj.org/article/4244008ca6074117babe9a1796cb68c8
Autor:
Olivier Dauwalder, David Klatzmann, Marie Duperril, Marion Moreews, Christine Lombard, Behrouz Kassai, Fanny Bajolle, Jean-Laurent Casanova, Anne-Laure Mathieu, Guillaume Monneret, Magali Perret, Rémi Pescarmona, Aurélie Portefaix, Jacqueline Marvel, Laurent Abel, Christophe Malcus, Tiphaine Louazon, Anne Moulin-Zinsch, Mehdi Mezidi, Lisa Giovannini-Chami, Omran Allatif, Hugues Patural, Thierry Walzer, Emilie Chopin, Francois Vandenesh, Encarnita Mariotti-Ferrandiz, Fabienne Venet, Céline Dupieux, Valérie Launay, Paul Bastard, Sophie Trouillet-Assant, Jean-Christophe Richard, Olivier Thaunat, Shen-Ying Zhang, Marine Villard, Samira Khaldi-Plassart, Kahina Saker, Alexandre Belot, Sophia Djebali, Marlène Dreux, Alicia Bellomo, Isabelle Rouvet, Robin Pouyau, Etienne Javouhey, Margaux Guerder, Sonia Teyssedre, Valérie Dubois, Kenz Le Gouge, Hugues Flodrops, Jean-Marie De Guillebon
Publikováno v:
Science Immunology
Science Immunology, American Association for the Advancement of Science, 2021, 6 (59), pp.eabh1516. ⟨10.1126/sciimmunol.abh1516⟩
Science Immunology, 2021, 6 (59), pp.eabh1516. ⟨10.1126/sciimmunol.abh1516⟩
Science Immunology, American Association for the Advancement of Science, 2021, 6 (59), pp.eabh1516. ⟨10.1126/sciimmunol.abh1516⟩
Science Immunology, 2021, 6 (59), pp.eabh1516. ⟨10.1126/sciimmunol.abh1516⟩
International audience; Multisystem inflammatory syndrome in children (MIS-C) is a delayed and severe complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection that strikes previously healthy children. As MIS-C combines c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ac735557fe07ba63d9f36b63c19991b
https://hal.archives-ouvertes.fr/hal-03298662
https://hal.archives-ouvertes.fr/hal-03298662
Autor:
Maud Tusseau, Ema Lovšin, Charlotte Samaille, Rémi Pescarmona, Anne-Laure Mathieu, Maria-Cristina Maggio, Velma Selmanović, Marusa Debeljak, Angelique Dachy, Gregor Novljan, Alexandre Janin, Louis Januel, Jean-Baptiste Gibier, Emilie Chopin, Isabelle Rouvet, David Goncalves, Nicole Fabien, Gillian I Rice, Gaétan Lesca, Audrey Labalme, Paola Romagnani, Thierry Walzer, Sebastien Viel, Magali Perret, Yanick J. Crow, Tadej Avčin, Rolando Cimaz, Alexandre Belot
Publikováno v:
Journal of clinical immunology. 42(6)
Background: Deoxyribonuclease 1 like 3 (DNASE1L3) is a secreted enzyme that has been shown to digest the extracellular chromatin derived from apoptotic bodies, and DNASE1L3 pathogenic variants have been associated with a lupus phenotype. It is unclea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63ec073ef6334a7e8b88d9ace79d1694
https://pubmed.ncbi.nlm.nih.gov/35670985
https://pubmed.ncbi.nlm.nih.gov/35670985
Autor:
Marion, Moreews, Kenz, Le Gouge, Samira, Khaldi-Plassart, Rémi, Pescarmona, Anne-Laure, Mathieu, Christophe, Malcus, Sophia, Djebali, Alicia, Bellomo, Olivier, Dauwalder, Magali, Perret, Marine, Villard, Emilie, Chopin, Isabelle, Rouvet, Francois, Vandenesh, Céline, Dupieux, Robin, Pouyau, Sonia, Teyssedre, Margaux, Guerder, Tiphaine, Louazon, Anne, Moulin-Zinsch, Marie, Duperril, Hugues, Patural, Lisa, Giovannini-Chami, Aurélie, Portefaix, Behrouz, Kassai, Fabienne, Venet, Guillaume, Monneret, Christine, Lombard, Hugues, Flodrops, Jean-Marie, De Guillebon, Fanny, Bajolle, Valérie, Launay, Paul, Bastard, Shen-Ying, Zhang, Valérie, Dubois, Olivier, Thaunat, Jean-Christophe, Richard, Mehdi, Mezidi, Omran, Allatif, Kahina, Saker, Marlène, Dreux, Laurent, Abel, Jean-Laurent, Casanova, Jacqueline, Marvel, Sophie, Trouillet-Assant, David, Klatzmann, Thierry, Walzer, Encarnita, Mariotti-Ferrandiz, Etienne, Javouhey, Alexandre, Belot
Publikováno v:
Science immunology. 6(59)
Multiple Inflammatory Syndrome in Children (MIS-C) is a delayed and severe complication of SARS-CoV-2 infection that strikes previously healthy children. As MIS-C combines clinical features of Kawasaki disease and Toxic Shock Syndrome (TSS), we aimed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::12fe9c71b1e28337e1add9d55490783f
https://pubmed.ncbi.nlm.nih.gov/34035116
https://pubmed.ncbi.nlm.nih.gov/34035116
Autor:
Encarnita Mariotti-Ferrandiz, Marlène Dreux, Kenz Le Gouge, Aurélie Portefaix, Anne-Moulin-Zinsch, Alexandre Belot, Emilie Chopin, Marie Duperril, Marion Moreews, Hugues Patural, Thierry Walzer, Jean-Christophe Richard, Anne-Laure Mathieu, Robin Pouyau, Etienne Javouhey, Olivier Thaunat, Valérie Dubois, Hugues Flodrops, Behrouz Kassai, Marine Villard, Alicia Bellomo, Laurent Abel, Fabienne Venet, Samira Khaldi-Plassart, Sophia Djebali, David Klatzmann, Jacqueline Marvel, Sonia Teyssedre, Céline Dupieux, Tiphaine Louazon, Lisa Giovannini-Chami, Sophie Trouillet-Assant, Christine Lombard, Francois Vandenesh, Mehdi Mezidi, Shen-Ying Zhang, Guillaume Monneret, Jean-Laurent Casanova, Magali Perret, Rémi Pescarmona, Margaux Guerder, Paul Bastard, Christophe Malcus, Isabelle Rouvet
ObjectivesMultiple Inflammatory Syndrome in Children (MIS-C) is the most severe pediatric form of COVID-19 and occurs in previously healthy children. MIS-C combines features of Kawasaki disease and Toxic Shock Syndrome (TSS).MethodsChildren with susp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78d878e4f5ba31e941f47e1b2820ab0f
https://doi.org/10.1101/2021.02.11.21251166
https://doi.org/10.1101/2021.02.11.21251166
Autor:
Agatha Schlüter, Cyril Goizet, Miquel Raspall-Chaure, Almudena Chacón, Mehdi Benkirane, Lisa Pavinato, Agustí Rodríguez-Palmero, Isabelle Rouvet, Irene de la Calle, Francesco Saettini, Carlos Casasnovas, Michel Koenig, Vincent Michaud, Júlia Sala-Coromina, Melanie O’Leary, Emily O'Heir, Aurora Pujol, Alfons Macaya, Chiara Fossati, Precilla de Souza, Alfredo Brusco, David R. Adams, Heather C Mefford, Luis González Gutiérrez-Solana, Valentina Vélez-Santamaría, Maria Iascone, Estibaliz Barredo, Agathe Roubertie, Francesco Canonico, Anna Marcé-Grau, Giorgia Mandrile, Edgard Verdura, Heidi L. Rehm, Montserrat Ruiz, Laura Planas-Serra
Publikováno v:
Brain
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, ⟨10.1093/brain/awab124⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Scientia
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, ⟨10.1093/brain/awab124⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Scientia
Phosphoinositides are lipids that play a critical role in processes such as cellular signalling, ion channel activity and membrane trafficking. When mutated, several genes that encode proteins that participate in the metabolism of these lipids give r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b1969607f15890df5b654bdfd6ef362
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1769
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1769
Autor:
Alexandre Belot, Gillian I Rice, Sulliman Ommar Omarjee, Quentin Rouchon, Eve M D Smith, Marion Moreews, Maud Tusseau, Cécile Frachette, Raphael Bournhonesque, Nicole Thielens, Christine Gaboriaud, Isabelle Rouvet, Emilie Chopin, Akihiro Hoshino, Sylvain Latour, Bruno Ranchin, Rolando Cimaz, Paula Romagnani, Christophe Malcus, Nicole Fabien, Marie-Nathalie Sarda, Behrouz Kassai, Jean-Christophe Lega, Stéphane Decramer, Pauline Abou-Jaoude, Ian N Bruce, Thomas Simonet, Claire Bardel, Pierre Antoine Rollat-Farnier, Sebastien Viel, Héloise Reumaux, James O'Sullivan, Thierry Walzer, Anne-Laure Mathieu, Gaelle Marenne, Thomas Ludwig, Emmanuelle Genin, Jamie Ellingford, Brigitte Bader-Meunier, Tracy A Briggs, Michael W Beresford, Yanick J Crow, Dominique Campion, Jean-Francois Dartigues, Jean-François Deleuze, Jean-Charles Lambert, Richard Redon, Emma Allain-Launay, Kenza Bouayed, Stephane Burtey, Aurélia Carbasse, Véronique Despert, Olivier Fain, Michel Fischbach, Hugues Flodrops, Caroline Galeotti, Eric Hachulla, Yves Hatchuel, Jean-Francois Kleinmann, Isabelle Kone-Paut, Aurélia Lanteri, Irène Lemelle, Hélène Maillard, François Maurier, Ulrich Meinzer, Isabelle Melki, Sandrine Morell-Dubois, Anne Pagnier, Maryam Piram, Charlotte Samaille, Jean Sibilia, Olivia Weill, Eslam Al-Abadi, Kate Armon, Kathryn Bailey, Michael Beresford, Mary Brennan, Coziana Ciurtin, Janet Gardner-Medwin, Kirsty Haslam, Daniel Hawley, Alice Leahy, Valentina Leone, Devesh Mewar, Rob Moots, Clarissa Pilkington, Athimalaipet Ramanan, Satyapal Rangaraj, Annie Ratcliffe, Philip Riley, Ethan Sen, Arani Sridhar, Nick Wilkinson, Fiona Wood
Publikováno v:
The Lancet Rheumatology
The Lancet Rheumatology, Elsevier, 2020, 2 (2), pp.e99-e109. ⟨10.1016/S2665-9913(19)30142-0⟩
The Lancet Rheumatology, 2020, 2 (2), pp.e99-e109. ⟨10.1016/S2665-9913(19)30142-0⟩
Belot, A, Rice, G I, Ommar Omarjee, S, Rouchon, Q, Smith, E MD, Moreews, M, Tusseau, M, Frachette, C, Bournhonesque, R, Thielens, N, Gaboriaud, C, Rouvet, I, Chopin, E, Hoshino, A, Latour, S, Ranchin, B, Cimaz, R, Romagnani, P, Malcus, C, Fabien, N, Sarda, M N, Kassai, B, Lega, J-C, Decramer, S, Aboujaoude, P, Bruce, I N, Simonet, T, Bardel, C, Rollat-Farnier, P A, Sebastien, V, Reumaux, H, O'Sullivan, J, Walzer, T, Mathieu, A-L, Marenne, G, Ludwig, T, Genin, E, Ellingford, J M, Bader-Meunier, B, Briggs, T A, Beresford, M W & Crow, Y J 2020, ' Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts ', The Lancet Rheumatology . https://doi.org/10.1016/S2665-9913(19)30142-0
The Lancet Rheumatology, Elsevier, 2020, 2 (2), pp.e99-e109. ⟨10.1016/S2665-9913(19)30142-0⟩
The Lancet Rheumatology, 2020, 2 (2), pp.e99-e109. ⟨10.1016/S2665-9913(19)30142-0⟩
Belot, A, Rice, G I, Ommar Omarjee, S, Rouchon, Q, Smith, E MD, Moreews, M, Tusseau, M, Frachette, C, Bournhonesque, R, Thielens, N, Gaboriaud, C, Rouvet, I, Chopin, E, Hoshino, A, Latour, S, Ranchin, B, Cimaz, R, Romagnani, P, Malcus, C, Fabien, N, Sarda, M N, Kassai, B, Lega, J-C, Decramer, S, Aboujaoude, P, Bruce, I N, Simonet, T, Bardel, C, Rollat-Farnier, P A, Sebastien, V, Reumaux, H, O'Sullivan, J, Walzer, T, Mathieu, A-L, Marenne, G, Ludwig, T, Genin, E, Ellingford, J M, Bader-Meunier, B, Briggs, T A, Beresford, M W & Crow, Y J 2020, ' Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts ', The Lancet Rheumatology . https://doi.org/10.1016/S2665-9913(19)30142-0
Summary Background Systemic lupus erythematosus (SLE) is a rare immunological disorder and genetic factors are considered important in its causation. Monogenic lupus has been associated with around 30 genotypes in humans and 60 in mice, while genome-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a7737ea37ac192ff9add609775a9374
https://hal.archives-ouvertes.fr/hal-03065973
https://hal.archives-ouvertes.fr/hal-03065973