Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation and hyperinflammation Running title: NCKAP1L deficiency

Autor: Castro, Carla, Rosenzwajg, Michelle, Carapito, Raphael, Shahrooei, Mohammad, Konantz, Martina, Khan, Amjad, Miao, Zhichao, Gross, Miriam, Tranchant, Thibaud, Radosavljevic, Mirjana, Paul, Nicodème, Stemmelen, Tristan, Pitoiset, Fabien, Hirschler, Aurélie, Nespola, Benoit, Molitor, Anne, Rolli, Véronique, Pichot, Angélique, Faletti, Laura, Rinaldi, Bruno, Friant, Sylvie, Mednikov, Mark, Karauzum, Hatice, Javad Aman, M, CARAPITO, Christine, Lengerke, Claudia, Ziaee, Vahid, Eyaid, Wafaa, Ehl, Stephan, Alroqi, Fayhan, Parvaneh, Nima, Bahram, Seiamak

Publikováno v: Journal of Experimental Medicine
Journal of Experimental Medicine, Rockefeller University Press, 2020, ⟨10.1084/jem.20192275⟩

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2223ef75505afd8f1285ca527e34ddc6
https://hal.archives-ouvertes.fr/hal-03024718/file/Castro_et_al.pdf

Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency

Autor: Carapito, Raphael, Carapito, Christine, Morlon, Aurore, Paul, Nicodème, Vaca Jacome, Alvaro Sebastian, Alsaleh, Ghada, Rolli, Véronique, Tahar, Ouria, Aouadi, Ismaïl, Rompais, Magali, Delalande, Francois, Pichot, Angélique, Georgel, Philippe, Messer, Laurent, Sibilia, Jean, Cianférani, Sarah, Van Dorsselaer, Alain, Bahram, Seiamak

Publikováno v: Annals of the Rheumatic Diseases
Annals of the Rheumatic Diseases, BMJ Publishing Group, 2018, 77 (11), pp.1675-1687. ⟨10.1136/annrheumdis-2018-213524⟩
Annals of the Rheumatic Diseases, 2018, 77 (11), pp.1675-1687. ⟨10.1136/annrheumdis-2018-213524⟩

International audience; Objectives The objective of the present study was to explain why two siblings carrying both the same homozygous pathogenic mutation for the autoinflammatory disease hyper IgD syndrome, show opposite phenotypes, that is, the fi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a1c1f8e1660f15876c0e755bf87da809
https://hal.archives-ouvertes.fr/hal-02326877

Multi-OMICS analyses unveil as a potential modifier gene in mevalonate kinase deficiency.

Autor: Carapito, Raphael, Carapito, Christine, Morlon, Aurore, Paul, Nicodème, Jacome, Alvaro Sebastian Vaca, Alsaleh, Ghada, Rolli, Véronique, Tahar, Ouria, Aouadi, Ismail, Rompais, Magali, Delalande, François, Pichot, Angélique, Georgel, Philippe, Messer, Laurent, Sibilia, Jean, Cianferani, Sarah, Van Dorsselaer, Alain, Bahram, Seiamak, Vaca Jacome, Alvaro Sebastian

Publikováno v: Annals of the Rheumatic Diseases; Nov2018, Vol. 77 Issue 11, p1675-1687, 13p, 5 Diagrams, 2 Charts, 2 Graphs

Lipolysis is altered in MHC class I zinc-α 2-glycoprotein deficient mice

Autor: Rolli, Véronique, Radosavljevic, Mirjana, Astier, Valérie, Macquin, Cécile, Castan-Laurell, Isabelle, Visentin, Virgile, Guigné, Charlotte, Carpéné, Christian, Valet, Philippe, Gilfillan, Susan, Bahram, Seiamak

Publikováno v: In FEBS Letters 2007 581(3):394-400