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 no EMBO Mol Med (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 no Front Immunol (2019)

An in vivo study of the impact of deficiency in the DNA repair proteins PAXX and XLF on development and maturation of the hemolymphoid system

Por Musilli, Stefania, Abramowski, Vincent, Roch, Benoit, de Villartay, Jean-Pierre
Publicado no J Biol Chem (2020)

Metallo-β-lactamase fold within nucleic acids processing enzymes: the β-CASP family

Por Callebaut, Isabelle, Moshous, Despina, Mornon, Jean-Paul, de Villartay, Jean-Pierre
Publicado em 2002

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 em 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 no PLoS One (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 em 2004

The C-Terminal Domain of Cernunnos/XLF Is Dispensable for DNA Repair In Vivo

Por Malivert, Laurent, Callebaut, Isabelle, Rivera-Munoz, Paola, Fischer, Alain, Mornon, Jean-Paul, Revy, Patrick, de Villartay, Jean-Pierre
Publicado em 2009

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 no PLoS Genet (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 em 2009

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome

Por Touzot, Fabien, Callebaut, Isabelle, Soulier, Jean, Gaillard, Laetitia, Azerrad, Chantal, Durandy, Anne, Fischer, Alain, de Villartay, Jean-Pierre, Revy, Patrick
Publicado em 2010

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 em 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 no Nat Commun (2016)

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 em 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 no Oncotarget (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 no Nucleic Acids Res (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 em 2009

Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans

Por Vera, Gabriella, Rivera-Munoz, Paola, Abramowski, Vincent, Malivert, Laurent, Lim, Annick, Bole-Feysot, Christine, Martin, Christelle, Florkin, Benoit, Latour, Sylvain, Revy, Patrick, de Villartay, Jean-Pierre
Publicado em 2013

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 em 2009

Delineation of the Xrcc4-interacting Region in the Globular Head Domain of Cernunnos/XLF

Por Malivert, Laurent, Ropars, Virginie, Nunez, Marcela, Drevet, Pascal, Miron, Simona, Faure, Guilhem, Guerois, Raphael, Mornon, Jean-Paul, Revy, Patrick, Charbonnier, Jean-Baptiste, Callebaut, Isabelle, de Villartay, Jean-Pierre
Publicado em 2010