Výsledky vyhledávání - Smahi, Asma

Super-resolution microscopy reveals a preformed NEMO lattice structure that is collapsed in incontinentia pigmenti Autor Scholefield, Janine, Henriques, Ricardo, Savulescu, Anca F., Fontan, Elisabeth, Boucharlat, Alix, Laplantine, Emmanuel, Smahi, Asma, Israël, Alain, Agou, Fabrice, Mhlanga, Musa M.

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Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation Autor Philippe, Orianne, Rio, Marlène, Carioux, Astrid, Plaza, Jean-Marc, Guigue, Philippe, Molinari, Florence, Boddaert, Nathalie, Bole-Feysot, Christine, Nitschke, Patrick, Smahi, Asma, Munnich, Arnold, Colleaux, Laurence

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ARP-T1-associated Bazex–Dupré–Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies Autor Park, Hyun-Sook, Papanastasi, Eirini, Blanchard, Gabriela, Chiticariu, Elena, Bachmann, Daniel, Plomann, Markus, Morice-Picard, Fanny, Vabres, Pierre, Smahi, Asma, Huber, Marcel, Pich, Christine, Hohl, Daniel

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The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation Autor Puel, Anne, Reichenbach, Janine, Bustamante, Jacinta, Ku, Cheng-Lung, Feinberg, Jacqueline, Döffinger, Rainer, Bonnet, Marion, Filipe-Santos, Orchidée, Beaucoudrey, Ludovic de, Durandy, Anne, Horneff, Gerd, Novelli, Francesco, Wahn, Volker, Smahi, Asma, Israel, Alain, Niehues, Tim, Casanova, Jean-Laurent

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A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency Autor Courtois, Gilles, Smahi, Asma, Reichenbach, Janine, Döffinger, Rainer, Cancrini, Caterina, Bonnet, Marion, Puel, Anne, Chable-Bessia, Christine, Yamaoka, Shoji, Feinberg, Jacqueline, Dupuis-Girod, Sophie, Bodemer, Christine, Livadiotti, Susanna, Novelli, Francesco, Rossi, Paolo, Fischer, Alain, Israël, Alain, Munnich, Arnold, Deist, Françoise Le, Casanova, Jean-Laurent

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Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts Autor Michot, Caroline, Mamoune, Asmaa, Vamecq, Joseph, Viou, Mai Thao, Hsieh, Lu-Sheng, Testet, Eric, Lainé, Jeanne, Hubert, Laurence, Dessein, Anne-Frédérique, Fontaine, Monique, Ottolenghi, Chris, Fouillen, Laetitia, Nadra, Karim, Blanc, Etienne, Bastin, Jean, Candon, Sophie, Pende, Mario, Munnich, Arnold, Smahi, Asma, Djouadi, Fatima, Carman, George M., Romero, Norma, de Keyzer, Yves, de Lonlay, Pascale

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AP1S3 Mutations Are Associated with Pustular Psoriasis and Impaired Toll-like Receptor 3 Trafficking Autor Setta-Kaffetzi, Niovi, Simpson, Michael A., Navarini, Alexander A., Patel, Varsha M., Lu, Hui-Chun, Allen, Michael H., Duckworth, Michael, Bachelez, Hervé, Burden, A. David, Choon, Siew-Eng, Griffiths, Christopher E.M., Kirby, Brian, Kolios, Antonios, Seyger, Marieke M.B., Prins, Christa, Smahi, Asma, Trembath, Richard C., Fraternali, Franca, Smith, Catherine H., Barker, Jonathan N., Capon, Francesca

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Epithelial barrier dysfunction in desmoglein-1 deficiency Autor Polivka, Laura, Hadj-Rabia, Smail, Bal, Elodie, Leclerc-Mercier, Stéphanie, Madrange, Marine, Hamel, Yamina, Bonnet, Damien, Mallet, Stéphanie, Lepidi, Hubert, Ovaert, Caroline, Barbet, Patrick, Dupont, Christophe, Neven, Bénédicte, Munnich, Arnold, Godsel, Lisa M., Campeotto, Florence, Weil, Robert, Laplantine, Emmanuel, Marchetto, Sylvie, Borg, Jean-Paul, Weis, William I., Casanova, Jean-Laurent, Puel, Anne, Green, Kathleen J., Bodemer, Christine, Smahi, Asma

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