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)

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

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

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

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 em 2007

Diagnosis of Fanconi anemia in patients with bone marrow failure

Por Pinto, Fernando O., Leblanc, Thierry, Chamousset, Delphine, Le Roux, Gwenaelle, Brethon, Benoit, Cassinat, Bruno, Larghero, Jérôme, de Villartay, Jean-Pierre, Stoppa-Lyonnet, Dominique, Baruchel, André, Socié, Gérard, Gluckman, Eliane, Soulier, Jean
Publicado em 2009

A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly

Por Zhang, Shu, Pondarre, Corinne, Pennarun, Gaelle, Labussiere-Wallet, Helene, Vera, Gabriella, France, Benoit, Chansel, Marie, Rouvet, Isabelle, Revy, Patrick, Lopez, Bernard, Soulier, Jean, Bertrand, Pascale, Callebaut, Isabelle, de Villartay, Jean-Pierre
Publicado no J Exp Med (2016)

Structural characterization of filaments formed by human Xrcc4–Cernunnos/XLF complex involved in nonhomologous DNA end-joining

Por Ropars, Virginie, Drevet, Pascal, Legrand, Pierre, Baconnais, Sonia, Amram, Jeremy, Faure, Guilhem, Márquez, José A., Piétrement, Olivier, Guerois, Raphaël, Callebaut, Isabelle, Le Cam, Eric, Revy, Patrick, de Villartay, Jean-Pierre, Charbonnier, Jean-Baptiste
Publicado em 2011