Publications and ressources

Drug Repurposing Reveals mTOR Inhibition as a Promising Strategy for Epidermolysis Bullosa Simplex.

Hélène Ragot, Alain Hovnanian

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A CBF decrease in the left supplementary motor areas: New insight into postoperative pediatric cerebellar mutism syndrome using arterial spin labeling perfusion MRI.

Jennifer Boisgontier, Ludovic Fillon, Caroline Rutten , Ana Saitovitch, Hervé Lemaître, Thomas Blauwblomme, Alice Vinçon-Leite, Monica Zilbovicius , Nathalie Boddaert, Raphaël Levy, Volodia Dangouloff-Ros, David Grévent, Charles-Joris Roux

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Transient mTOR inhibition rescues 4-1BB CAR-Tregs from tonic signal-induced dysfunction.

Baptiste LAMARTHÉE, Soëli CHARBONNIER, Tifanie BLEIN, Emmanuel Martin, Matthias Titeux, Marianne DELVILLE, Hélène VINÇON, Emmanuelle SIX, Sylvain Latour, Marina Cavazzana, Isabelle André, Julien ZUBER

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Pustular psoriasis: Molecular pathways and effects of spesolimab in generalized pustular psoriasis.

Hervé Bachelez

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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.

Alice Lepelley, Marie-Louise Frémond, Luís Seabra, Christine Bodemer, Pascale De Lonlay, Brigitte Bader-Meunier

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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.

Alice Lepelley, Marie-Louise Frémond, Luís Seabra, Yanick Crow

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Fetal hemoglobin rescues ineffective erythropoiesis in sickle cell disease.

Michael Dussiot, Giacomo Frati, Annarita Miccio

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Unraveling Ewing Sarcoma Tumorigenesis Originating from Patient-Derived Mesenchymal Stem Cells.

Maxime Heintzé, Loelia Babin, Patrick Revy, Lucile Couronné, Erika Brunet

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Immunity to EBV as revealed by immunedeficiencies.

Sylvain Latour

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SARS-CoV-2 infection inducing severe flare up of Deficiency of Interleukin Thirty-six (IL-36) Receptor Antagonist (DITRA) resulting from a mutation invalidating the activating cleavage site of the IL-36 receptor antagonist.

Hervé Bachelez

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Netherton syndrome subtypes share IL-17/IL-36 signature with distinct IFN-α and allergic responses.

Claire Barbieux, Mathilde Bonnet des Claustres, Olivier Gouin, Florent Leturcq, Christine Bole, Vivien Beziat, Alain Hovnanian

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A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis.

Camille DE CEVINS, Marine LUKA, Sonia MEYNIER, Aude Magerus, Laura BARNABEI, Alexandre BOULLE, Marie-Claude Stolzenberg, Vithura PIRABAKARAN, Quentin Riller, Ghaith ABDESSALEM, Mohammed ZARHRATE, Mélanie Parisot, Camille BRUNAUD, Shen-Ying Zhang, Jean-Laurent CASANOVA , Brigitte Bader-Meunier, Isabelle Melki, Damien Bonnet, Slimane Allali, Loïc de Pontual, Alain Fischer, Frédéric Rieux-Laucat

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Intestinal immunoregulation: lessons from human mendelian diseases.

Fabienne CHARBIT-HENRION, Marianna Parlato, Georgia MALAMUT, Frank RUEMMELE, Nadine CERF-BENSUSSAN

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Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.

Marine Madrange, Corinne Lebreton, Olivier Pellé

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Mitochondrial Nucleic Acid as a Driver of Pathogenic Type I Interferon Induction in Mendelian Disease

Alice Lepelley, Yanick Crow

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