JAK inhibitors in refractory juvenile rheumatic diseases: Efficacy, tolerance and type-I interferon profiling, a single center retrospective study

Autor: Solignac, Marie, Cabrera, Natalia, Fouillet-Desjonqueres, Marine, Duquesne, Agnes, Laurent, Audrey, Foray, Anne-Perrine, Viel, Sebastien, Zekre, Franck, Belot, Alexandre

Publikováno v: In Journal of Autoimmunity July 2024 147

Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.

Autor: Mancini, Maxence, Chapurlat, Roland, Isidor, Bertrand, Desjonqueres, Marine, Couture, Guillaume, Guggenbuhl, Pascal, Coutant, Régis, El Chehadeh, Salima, Fradin, Mélanie, Frazier, Aline, Goldenberg, Alice, Guillot, Pascaline, Koumakis, Eugénie, Mehsen-Cêtre, Nadia, Rossi, Massimiliano, Schaefer, Élise, Sigaudy, Sabine, Porquet-Bordes, Valérie, Fontanges, Élisabeth, Letard, Pauline

Publikováno v: Calcified Tissue International; Nov2024, Vol. 115 Issue 5, p591-598, 8p

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Pyrin dephosphorylation is sufficient to trigger inflammasome activation in familial Mediterranean fever patients

Autor: Magnotti, Flora, Lefeuvre, Lucie, Benezech, Sarah, Malsot, Tiphaine, Waeckel, Louis, Martin, Amandine, Kerever, Sébastien, Chirita, Daria, Desjonqueres, Marine, Duquesne, Agnès, Gerfaud‐Valentin, Mathieu, Laurent, Audrey, Sève, Pascal, Popoff, Michel‐Robert, Walzer, Thierry, Belot, Alexandre, Jamilloux, Yvan, Henry, Thomas

Publikováno v: EMBO Molecular Medicine
EMBO Molecular Medicine, 2019, 11 (11), pp.e10547. ⟨10.15252/emmm.201910547⟩
EMBO Molecular Medicine, Wiley Open Access, 2019, 11 (11), pp.e10547. ⟨10.15252/emmm.201910547⟩
EMBO Molecular Medicine, Vol 11, Iss 11, Pp n/a-n/a (2019)

International audience; Familial Mediterranean fever (FMF) is the most frequent hereditary systemic autoinflammatory syndrome. FMF is usually caused by biallelic mutations in the MEFV gene, encoding Pyrin. Conclusive genetic evidence lacks for about

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0a8ee12253776b4be4bb2db0e9cd8a45
https://pubmed.ncbi.nlm.nih.gov/31589380