When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing

por de Villartay, Jean-Pierre
Publicado 2015

Cernunnos/Xlf Deficiency Results in Suboptimal V(D)J Recombination and Impaired Lymphoid Development in Mice

por Roch, Benoit, Abramowski, Vincent, Chaumeil, Julie, de Villartay, Jean-Pierre
Publicado 2019

Inborn errors of immunity caused by defects in the DNA damage response pathways: Importance of minimizing treatment‐related genotoxicity

por Fournier, Benjamin, Mahlaoui, Nizar, Moshous, Despina, de Villartay, Jean‐Pierre
Publicado 2022

Translesion DNA synthesis-assisted non-homologous end-joining of complex double-strand breaks prevents loss of DNA sequences in mammalian cells

por Covo, Shay, de Villartay, Jean-Pierre, Jeggo, Penny A., Livneh, Zvi
Publicado 2009

CD8 Memory Cells Develop Unique DNA Repair Mechanisms Favoring Productive Division

por Galgano, Alessia, Barinov, Aleksandr, Vasseur, Florence, de Villartay, Jean-Pierre, Rocha, Benedita
Publicado 2015

The Metallo-β-Lactamase/β-CASP Domain of Artemis Constitutes the Catalytic Core for V(D)J Recombination

por Poinsignon, Catherine, Moshous, Despina, Callebaut, Isabelle, de Chasseval, Régina, Villey, Isabelle, de Villartay, Jean-Pierre
Publicado 2004

DNA replication stress triggers rapid DNA replication fork breakage by Artemis and XPF

por Bétous, Rémy, Goullet de Rugy, Théo, Pelegrini, Alessandra Luiza, Queille, Sophie, de Villartay, Jean-Pierre, Hoffmann, Jean-Sébastien
Publicado 2018

Impaired Replication Stress Response in Cells from Immunodeficiency Patients Carrying Cernunnos/XLF Mutations

por Schwartz, Michal, Oren, Yifat S., Bester, Assaf C., Rahat, Ayelet, Sfez, Ruthy, Yitzchaik, Shlomo, de Villartay, Jean-Pierre, Kerem, Batsheva
Publicado 2009

A Human Severe Combined Immunodeficiency (SCID) Condition with Increased Sensitivity to Ionizing Radiations and Impaired V(D)J Rearrangements Defines a New DNA Recombination/Repair...

por Nicolas, Nathalie, Moshous, Despina, Cavazzana-Calvo, Marina, Papadopoulo, Dora, de Chasseval, Régina, Le Deist, Françoise, Fischer, Alain, de Villartay, Jean-Pierre
Publicado 1998

RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair

por Lescale, Chloé, Abramowski, Vincent, Bedora-Faure, Marie, Murigneux, Valentine, Vera, Gabriella, Roth, David B., Revy, Patrick, de Villartay, Jean-Pierre, Deriano, Ludovic
Publicado 2016

An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development

por Roch, Benoit, Abramowski, Vincent, Etienne, Olivier, Musilli, Stefania, David, Pierre, Charbonnier, Jean-Baptiste, Callebaut, Isabelle, Boussin, François D, de Villartay, Jean-Pierre
Publicado 2021

Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination

por Soulas-Sprauel, Pauline, Le Guyader, Gwenaël, Rivera-Munoz, Paola, Abramowski, Vincent, Olivier-Martin, Christelle, Goujet-Zalc, Cécile, Charneau, Pierre, de Villartay, Jean-Pierre
Publicado 2007

Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia

por Lesport, Emilie, Ferster, Alina, Biver, Armand, Roch, Benoit, Vasquez, Nadia, Jabado, Nada, Vives, Francina Langa, Revy, Patrick, Soulier, Jean, de Villartay, Jean-Pierre
Publicado 2017

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA

por Schertzer, Michael, Jouravleva, Karina, Perderiset, Mylene, Dingli, Florent, Loew, Damarys, Le Guen, Tangui, Bardoni, Barbara, de Villartay, Jean-Pierre, Revy, Patrick, Londoño-Vallejo, Arturo
Publicado 2015

Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran

por Sadeghi-Shanbestari, Mahnaz, Ansarin, Khalil, Maljaei, Seyed Hudieh, Rafeey, Mandana, Pezeshki, Zakaria, kousha, Ahmmad, Baradaran, Reza, Casanova, Jean Laurent, Feinberg, Jacqueline, de Villartay, Jean Pierre
Publicado 2009

Requirement for XLF/Cernunnos in alignment-based gap filling by DNA polymerases λ and μ for nonhomologous end joining in human whole-cell extracts

por Akopiants, Konstantin, Zhou, Rui-Zhe, Mohapatra, Susovan, Valerie, Kristoffer, Lees-Miller, Susan P., Lee, Kyung-Jong, Chen, David J., Revy, Patrick, de Villartay, Jean-Pierre, Povirk, Lawrence F.
Publicado 2009

A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and Humans

por Chansel-Da Cruz, Marie, Hohl, Marcel, Ceppi, Ilaria, Kermasson, Laëtitia, Maggiorella, Laurence, Modesti, Mauro, de Villartay, Jean-Pierre, Ileri, Talia, Cejka, Petr, Petrini, John H.J., Revy, Patrick
Publicado 2020

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

por Péron, Sophie, Pan-Hammarström, Qiang, Imai, Kohsuke, Du, Likun, Taubenheim, Nadine, Sanal, Ozden, Marodi, Laszlo, Bergelin-Besançon, Anne, Benkerrou, Malika, de Villartay, Jean-Pierre, Fischer, Alain, Revy, Patrick, Durandy, Anne
Publicado 2007

Composition and dosage of a multipartite enhancer cluster control developmental expression of Indian hedgehog

por Will, Anja J., Cova, Giulia, Osterwalder, Marco, Chan, Wing-Lee, Wittler, Lars, Brieske, Norbert, Heinrich, Verena, de Villartay, Jean-Pierre, Vingron, Martin, Klopocki, Eva, Visel, Axel, Lupiáñez, Darío G., Mundlos, Stefan
Publicado 2017

Indispensable epigenetic control of thymic epithelial cell development and function by polycomb repressive complex 2

por Barthlott, Thomas, Handel, Adam E., Teh, Hong Ying, Wirasinha, Rushika C., Hafen, Katrin, Žuklys, Saulius, Roch, Benoit, Orkin, Stuart H., de Villartay, Jean-Pierre, Daley, Stephen R., Holländer, Georg A.
Publicado 2021