Résultat de recherche

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

Hélène Ragot, Alain Hovnanian

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Trial of Spesolimab for Generalized Pustular Psoriasis.

Hervé Bachelez

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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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Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa.

Florence Assan , Asma Smahi, Hervé Bachelez

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Immunity to EBV as revealed by immunedeficiencies.

Sylvain Latour

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Atomic models for the polypeptide backbones of myohemerythrin and hemerythrin.

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Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Jeanne Amiel, Chris Gordon

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Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

Thuy-Linh Le, Anna Pelet, Patrick Nitschké, Stanislas Lyonnet, Jeanne Amiel, Nadège Bondurand, Chris Gordon

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Clémantine Dimartino, Mélanie Parisot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Valérie Cormier-Daire, Stanislas Lyonnet, Jeanne Amiel, Chris Gordon

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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Nancy Vegas, Clémantine Dimartino, Stanislas Lyonnet, Valérie Cormier-Daire, Jeanne Amiel, Chris Gordon

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Novel genome-editing-based approaches to treat motor neuron diseases: Promises and challenges.

Annarita Miccio , Panagiotis Antoniou, Sorana CIURA, Edor Kabashi

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