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Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection
Izawa, Kazushi, Martin, Emmanuel, Soudais, Claire, Bruneau, Julie, Boutboul, David, Rodriguez, Rémy, Lenoir, Christelle, Hislop, Andrew D., Besson, Caroline, Touzot, Fabien, Picard, Capucine, Callebaut, Isabelle, de Villartay, Jean-Pierre, Moshous, Despina, Fischer, Alain, Latour, Sylvain
Published in The Journal of experimental medicine (01.01.2017)
Published in The Journal of experimental medicine (01.01.2017)
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Journal Article
Mechanism of MRX inhibition by Rif2 at telomeres
Roisné-Hamelin, Florian, Pobiega, Sabrina, Jézéquel, Kévin, Miron, Simona, Dépagne, Jordane, Veaute, Xavier, Busso, Didier, Du, Marie-Hélène Le, Callebaut, Isabelle, Charbonnier, Jean-Baptiste, Cuniasse, Philippe, Zinn-Justin, Sophie, Marcand, Stéphane
Published in Nature communications (12.05.2021)
Published in Nature communications (12.05.2021)
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Journal Article
Molecular models of the open and closed states of the whole human CFTR protein
Mornon, Jean-Paul, Lehn, Pierre, Callebaut, Isabelle
Published in Cellular and molecular life sciences : CMLS (01.11.2009)
Published in Cellular and molecular life sciences : CMLS (01.11.2009)
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Journal Article
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
Melki, Isabelle, Rose, Yoann, Uggenti, Carolina, Van Eyck, Lien, Frémond, Marie-Louise, Kitabayashi, Naoki, Rice, Gillian I., Jenkinson, Emma M., Boulai, Anaïs, Jeremiah, Nadia, Gattorno, Marco, Volpi, Sefano, Sacco, Olivero, Terheggen-Lagro, Suzanne W.J., Tiddens, Harm A.W.M., Meyts, Isabelle, Morren, Marie-Anne, De Haes, Petra, Wouters, Carine, Legius, Eric, Corveleyn, Anniek, Rieux-Laucat, Frederic, Bodemer, Christine, Callebaut, Isabelle, Rodero, Mathieu P., Crow, Yanick J.
Published in Journal of allergy and clinical immunology (01.08.2017)
Published in Journal of allergy and clinical immunology (01.08.2017)
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Journal Article
Somatic genetic rescue of a germline ribosome assembly defect
Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick
Published in Nature communications (19.08.2021)
Published in Nature communications (19.08.2021)
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Journal Article
Pharmacological chaperones improve intra-domain stability and inter-domain assembly via distinct binding sites to rescue misfolded CFTR
Baatallah, Nesrine, Elbahnsi, Ahmad, Mornon, Jean-Paul, Chevalier, Benoit, Pranke, Iwona, Servel, Nathalie, Zelli, Renaud, Décout, Jean-Luc, Edelman, Aleksander, Sermet-Gaudelus, Isabelle, Callebaut, Isabelle, Hinzpeter, Alexandre
Published in Cellular and molecular life sciences : CMLS (01.12.2021)
Published in Cellular and molecular life sciences : CMLS (01.12.2021)
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Journal Article
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome
Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean
Published in Blood (20.09.2018)
Published in Blood (20.09.2018)
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Journal Article
ATP-Binding Cassette and Solute Carrier Transporters: Understanding Their Mechanisms and Drug Modulation Through Structural and Modeling Approaches
Elbahnsi, Ahmad, Dudas, Balint, Callebaut, Isabelle, Hinzpeter, Alexandre, Miteva, Maria A.
Published in Pharmaceuticals (Basel, Switzerland) (01.12.2024)
Published in Pharmaceuticals (Basel, Switzerland) (01.12.2024)
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Journal Article
Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2
Lapalus, Martine, Mareux, Elodie, Amzal, Rachida, Drège, Emmanuelle, Riahi, Yosra, Petit, Sylvain, Banet, Manon, Falguières, Thomas, Callebaut, Isabelle, Figadère, Bruno, Joseph, Delphine, Gonzales, Emmanuel, Jacquemin, Emmanuel
Published in International journal of molecular sciences (29.05.2025)
Published in International journal of molecular sciences (29.05.2025)
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Journal Article
Toxoplasma membrane inositol phospholipid binding protein TgREMIND is essential for secretory organelle function and host infection
Houngue, Rodrigue, Sangaré, Lamba Omar, Alayi, Tchilabalo Dilezitoko, Dieng, Aissatou, Bitard-Feildel, Tristan, Boulogne, Claire, Slomianny, Christian, Atindehou, Cynthia Menonve, Fanou, Lucie Ayi, Hathout, Yetrib, Callebaut, Isabelle, Tomavo, Stanislas
Published in Cell reports (Cambridge) (23.01.2024)
Published in Cell reports (Cambridge) (23.01.2024)
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Journal Article
Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome
Garrigue, Alexandrine, Kermasson, Laëtitia, Susini, Sandrine, Fert, Ingrid, Mahony, Christopher B., Sadek, Hanem, Luce, Sonia, Chouteau, Myriam, Cavazzana, Marina, Six, Emmanuelle, Le Bousse-Kerdilès, Marie-Caroline, Anginot, Adrienne, Souraud, Jean-Baptiste, Cormier-Daire, Valérie, Willems, Marjolaine, Sirvent, Anne, Russello, Jennifer, Callebaut, Isabelle, André, Isabelle, Bertrand, Julien Y., Lagresle-Peyrou, Chantal, Revy, Patrick
Published in The Journal of clinical investigation (30.03.2025)
Published in The Journal of clinical investigation (30.03.2025)
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Journal Article
New insights into structure and function of bis-phosphinic acid derivatives and implications for CFTR modulation
Bitam, Sara, Elbahnsi, Ahmad, Creste, Geordie, Pranke, Iwona, Chevalier, Benoit, Berhal, Farouk, Hoffmann, Brice, Servel, Nathalie, Baatalah, Nesrine, Tondelier, Danielle, Hatton, Aurelie, Moquereau, Christelle, Faria Da Cunha, Mélanie, Pastor, Alexandra, Lepissier, Agathe, Hinzpeter, Alexandre, Mornon, Jean-Paul, Prestat, Guillaume, Edelman, Aleksander, Callebaut, Isabelle, Gravier-Pelletier, Christine, Sermet-Gaudelus, Isabelle
Published in Scientific reports (25.03.2021)
Published in Scientific reports (25.03.2021)
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Journal Article
In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy
Mareux, Elodie, Lapalus, Martine, Ben-Saad, Amel, Callebaut, Isabelle, Falguières, Thomas, Gonzales, Emmanuel, Jacquemin, Emmanuel
Published in Orphanet journal of rare diseases (18.11.2021)
Published in Orphanet journal of rare diseases (18.11.2021)
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Journal Article
Unconventional endosome-like compartment and retromer complex in Toxoplasma gondii govern parasite integrity and host infection
Sangaré, Lamba Omar, Alayi, Tchilabalo Dilezitoko, Westermann, Benoit, Hovasse, Agnes, Sindikubwabo, Fabien, Callebaut, Isabelle, Werkmeister, Elisabeth, Lafont, Frank, Slomianny, Christian, Hakimi, Mohamed-Ali, Van Dorsselaer, Alain, Schaeffer-Reiss, Christine, Tomavo, Stanislas
Published in Nature communications (11.04.2016)
Published in Nature communications (11.04.2016)
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Journal Article
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency
Benavides-Nieto, Marta, Adam, Frédéric, Martin, Emmanuel, Boussard, Charlotte, Lagresle-Peyrou, Chantal, Callebaut, Isabelle, Kauskot, Alexandre, Repérant, Christelle, Feng, Miao, Bordet, Jean-Claude, Castelle, Martin, Morelle, Guillaume, Brouzes, Chantal, Zarhrate, Mohammed, Panikulam, Patricia, Lambert, Nathalie, Picard, Capucine, Bodet, Damien, Rouger-Gaudichon, Jérémie, Revy, Patrick, de Villartay, Jean-Pierre, Moshous, Despina
Published in The Journal of clinical investigation (01.09.2024)
Published in The Journal of clinical investigation (01.09.2024)
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Journal Article