Not logged inNo Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases
Marchais, Manon; Pennisi, Alessandra; Pierga, Alexandre; Lepelley, Alice; Cagnard, Nicolas; Bole, Christine; Nitschke, Patrick; Hamici, Mohamed; Rieux-Laucat, Frederic; Schiff, Manuel; Munnich, Arnold; Rotig, Agnes .png)
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SaveShare Save Whole Exome Sequencing in Children With Autoimmune Hepatitis Identified Mutations in Genes Involved in the mTORC1 Signaling PathwayGaigne, Lea-Philippine; Besnard, Caroline; Debeaupuis, Orianne; Degtiar, Artem; Nhat, Duong Ho; Stolzenberg, Marie-Claude; Camara, Fatou; Pelle, Olivier; Schvartz, Adrien; Perin, Melodie; Almes, Marion; Darmellah-Remil, Amaria; Gonzales, Emmanuel; Gardin, Antoine; Habes, Dalila; Destombe, Sylvie; De Martin, Eleonora; Duclos-Vallee, Jean-Charles; Arkwright, Peter D.; Rieux-Laucat, Frederic; Jacquemin, Emmanuel; Magerus, Aude Share Save Share Save 2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 DeficiencyBrakta, Charlyne; Tabet, Anne-Claude; Puel, Mathilde; Pacault, Mathilde; Stolzenberg, Marie-Claude; Goudet, Claire; Merger, Marguerite; Reumaux, Heloise; Lambert, Nathalie; Alioua, Najiba; Malan, Valerie; Hanein, Sylvain; Dupin-Deguine, Delphine; Treiner, Emmanuel; Lefevre, Guillaume; Farhat, Meryem-Maud; Luca, Luminita Elena; Hureaux, Marguerite; Li, Hailun; Chelloug, Nora; Dehak, Rabha; Boussion, Simon; Ouachee-Chardin, Marie; Schleinitz, Nicolas; Abou Chahla, Wadih; Barlogis, Vincent; Vely, Frederic; Oksenhendler, Eric; Quartier, Pierre; Pasquet, Marlene; Suarez, Felipe; Bustamante, Jacinta; Neven, Benedicte; Picard, Capucine; Rieux-Laucat, Frederic; Levy, Jonathan; Rosain, Jeremie Share Save ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosisGuillet, Stephanie; Lazarov, Tomi; Jordan, Natasha; Boisson, Bertrand; Tello, Maria; Craddock, Barbara; Zhou, Ting; Nishi, Chihiro; Bareja, Rohan; Yang, Hairu; Rieux-Laucat, Frederic; Fregel Lorenzo, Rosa Irene; Dyall, Sabrina D.; Isenberg, David; D'Cruz, David; Lachmann, Nico; Elemento, Olivier; Viale, Agnes; Socci, Nicholas D.; Abel, Laurent; Nagata, Shigekazu; Huse, Morgan; Miller, W. Todd; Casanova, Jean-Laurent; Geissmann, Frederic Share Save Share Save Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupusJeanpierre, Marie; Cognard, Jade; Tusseau, Maud; Riller, Quentin; Bui, Linh-Chi; Berthelet, Jeremy; Laurent, Audrey; Crickx, Etienne; Parlato, Marianna; Stolzenberg, Marie-Claude; Suarez, Felipe; Leverger, Guy; Aladjidi, Nathalie; Collardeau-Frachon, Sophie; Pietrement, Christine; Malphettes, Marion; Froissart, Antoine; Bole-Feysot, Christine; Cagnard, Nicolas; Lima, Fernando Rodrigues; Walzer, Thierry; Rieux-Laucat, Frederic; Belot, Alexandre; Mathieu, Anne-Laure Share Save Share Save HETEROZYGOUS LOSS-OF-FUNCTION RELA MUTATIONS LEAD TO SYSTEMIC LUPUS ERYTHEMATOSUS OR AUTOINFLAMMATORY SYNDROMERiller, Q.; Barnabei, L.; Rodrigo-Riestra, M.; Stolzenberg, M. C.; Pelle, O.; Delage, L.; Becquard, T.; Courteille, C.; Marchais, M.; De Cevins, C.; Brunaud, C.; Magerus, A.; Luka, M.; Sorin, B.; Boussard, C.; Salomon, R.; Menager, M.; Hie, M.; Neven, B.; Baud, V.; Skokowa, J.; Sogkas, G.; Jamilloux, Y.; Merlin, E.; Belot, A.; Picard, C.; Boursier, G.; Rivere, E.; Georgin-Lavialle, S.; Quartier, P.; Bader-Meunier, B.; Fischer, A.; Miner, J. J.; Rieux-Laucat, F. Share Save Share Save Share Save Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndromeConsonni, Filippo; Moreno, Solange; Colell, Blanca Vinuales; Stolzenberg, Marie-Claude; Fernandes, Alicia; Parisot, Melanie; Masson, Cecile; Neveux, Nathalie; Rosain, Jeremie; Bamberger, Sarah; Vigue, Marie-Gabrielle; Malphettes, Marion; Quartier, Pierre; Picard, Capucine; Rieux-Laucat, Frederic; Magerus, Aude Share Save Mendelian Causes of Autoimmunity: the Lupus PhenotypeTusseau, Maud; Khaldi-Plassart, Samira; Cognard, Jade; Viel, Sebastien; Khoryati, Liliane; Benezech, Sarah; Mathieu, Anne-Laure; Rieux-Laucat, Frederic; Bader-Meunier, Brigitte; Belot, Alexandre Share Save Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammationCosson, Camille; Riou, Romane; Patoli, Danish; Niu, Tingting; Rey, Amaury; Groslambert, Marine; De Rosny, Charlotte; Chatre, Elodie; Allatif, Omran; Henry, Thomas; Venet, Fabienne; Milhavet, Florian; Boursier, Guilaine; Belot, Alexandre; Jamilloux, Yvan; Merlin, Etienne; Duquesne, Agnes; Grateau, Gilles; Savey, Lea; Maria, Alexandre Thibault Jacques; Pagnier, Anne; Poutrel, Solene; Lambotte, Olivier; Mallebranche, Coralie; Ardois, Samuel; Richer, Olivier; Lemelle, Irene; Rieux-Laucat, Frederic; Bader-Meunier, Brigitte; Amoura, Zahir; Melki, Isabelle; Cuisset, Laurence; Touitou, Isabelle; Geyer, Matthias; Georgin-Lavialle, Sophie; Py, Benedicte F. Share Save Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cellsStaniek, Julian; Kalina, Tomas; Andrieux, Geoffroy; Boerries, Melanie; Janowska, Iga; Fuentes, Manuel; Diez, Paula; Bakardjieva, Marina; Stancikova, Jitka; Raabe, Jan; Neumann, Julika; Schwenk, Sabine; Arpesella, Leonardo; Stuchly, Jan; Benes, Vladimir; Garcia Valiente, Rodrigo; Fernandez Garcia, Jonatan; Carsetti, Rita; Piano Mortari, Eva; Catala, Albert; de la Calle, Oscar; Sogkas, Georgios; Neven, Benedicte; Rieux-Laucat, Frederic; Magerus, Aude; Neth, Olaf; Olbrich, Peter; Voll, Reinhard E.; Alsina, Laia; Allende, Luis M.; Gonzalez-Granado, Luis I.; Boehler, Chiara; Thiel, Jens; Venhoff, Nils; Lorenzetti, Raquel; Warnatz, Klaus; Unger, Susanne; Seidl, Maximilian; Mielenz, Dirk; Schneider, Pascal; Ehl, Stephan; Rensing-Ehl, Anne; Smulski, Cristian Roberto; Rizzi, Marta Share Save 
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