检索结果 - Patrick Revy

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  1. 1
    Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder

    Unraveling the pathogenesis of Hoyeraal–Hreidarsson syndrome, a complex telomere biology disorder 由 Galina Glousker, Fabien Touzot, Patrick Revy, Yehuda Tzfati, Sharon A. Savage

    出版 2015
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  2. 2
    The Block in Immunoglobulin Class Switch Recombination Caused by Activation-Induced Cytidine Deaminase Deficiency Occurs Prior to the Generation of DNA Double Strand Breaks in Switch μ Region

    The Block in Immunoglobulin Class Switch Recombination Caused by Activation-Induced Cytidine Deaminase Deficiency Occurs Prior to the Generation of DNA Double Strand Breaks in Swit... 由 Nadia Catalan, Françoise Selz, Kohsuke Imai, Patrick Revy, Alain Fischer, Anne Durandy

    出版 2003
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  3. 3
    Cernunnos Interacts with the XRCC4·DNA-ligase IV Complex and Is Homologous to the Yeast Nonhomologous End-joining Factor Nej1

    Cernunnos Interacts with the XRCC4·DNA-ligase IV Complex and Is Homologous to the Yeast Nonhomologous End-joining Factor Nej1 由 Isabelle Callebaut, Laurent Malivert, Alain Fischer, Jean‐Paul Mornon, Patrick Revy, Jean‐Pierre de Villartay

    出版 2006
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  4. 4
    Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase

    Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase 由 Michael Schertzer, Laurent Jullien, André Luiz Pinto Santos, Rodrigo T. Calado, Patrick Revy, Arturo Londoño‐Vallejo

    出版 2023
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  5. 5
    Retinoids Regulate Survival and Antigen Presentation by Immature Dendritic Cells

    Retinoids Regulate Survival and Antigen Presentation by Immature Dendritic Cells 由 Frédéric Geissmann, Patrick Revy, Nicole Brousse, Yves Lepelletier, Claudia Folli, Anne Durandy, Pierre Chambon, Michel Dy

    出版 2003
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  6. 6
    Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase

    Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase 由 Aya Awad, Galina Glousker, Noa Lamm, Shadi Tawil, Noa Hourvitz, Riham Smoom, Patrick Revy, Yehuda Tzfati

    出版 2020
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  7. 7
    TGF-β1 Prevents the Noncognate Maturation of Human Dendritic Langerhans Cells

    TGF-β1 Prevents the Noncognate Maturation of Human Dendritic Langerhans Cells 由 Frédéric Geissmann, Patrick Revy, Armelle Régnault, Yves Lepelletier, Michel Dy, Nicole Brousse, Sebastián Amigorena, Olivier Hermine, Anne Durandy

    出版 1999
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  8. 8
    Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome

    Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal–Hreidarsson syndrome 由 Fabien Touzot, Isabelle Callebaut, Jean Soulier, Laetitia Gaillard, Chantal Azerrad, Anne Durandy, Alain Fischer, Jean‐Pierre de Villartay, Patrick Revy

    出版 2010
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  9. 9
    RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair

    RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair 由 Chloé Lescale, Vincent Abramowski, Marie Bedora-Faure, Valentine Murigneux, Gabriella Vera, David B. Roth, Patrick Revy, Jean‐Pierre de Villartay, Ludovic Deriano

    出版 2016
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  10. 10
    Interferon-γ –Receptor Deficiency in an Infant with Fatal Bacille Calmette–Guérin Infection

    Interferon-γ –Receptor Deficiency in an Infant with Fatal Bacille Calmette–Guérin Infection 由 Emmanuelle Jouanguy, Frédéric Altare, Salma Lamhamedi, Patrick Revy, Jean‐François Emile, Melanie J. Newport, Michael Levin, Stéphane Blanche, Eric Seboun, Alain Fischer, Jean‐Laurent Casanova

    出版 1996
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  11. 11
    Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans

    Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans 由 Gabriella Vera, Paola Rivera-Muñoz, Vincent Abramowski, Laurent Malivert, Apiradee Lim, Christine Bôle‐Feysot, Christelle Martin, Benoît Florkin, Sylvain Latour, Patrick Revy, Jean‐Pierre de Villartay

    出版 2012
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  12. 12
    Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression.

    Abnormal CD40-mediated activation pathway in B lymphocytes from patients with hyper-IgM syndrome and normal CD40 ligand expression. 由 Anne Durandy, Claire Hivroz, Fabienne Mazerolles, Claudine Schiff, Frédéric Bernard, Emmanuelle Jouanguy, Patrick Revy, James P. Di Santo, J F Gauchat, J Y Bonnefoy, Jean‐Laurent Casanova, A Fischer

    出版 1997
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  13. 13
    Hyper-IgM syndrome type 4 with a B lymphocyte–intrinsic selective deficiency in Ig class-switch recombination

    Hyper-IgM syndrome type 4 with a B lymphocyte–intrinsic selective deficiency in Ig class-switch recombination 由 Kohsuke Imai, Nadia Catalan, Alessandro Plebani, László Maródi, Özden Sanal, Satoru Kumaki, Vasantha Nagendran, Philip Wood, Catherine Glastre, F. Sarrot-Reynauld, Olivier Hermine, Monique Forveille, Patrick Revy, Alain Fischer, Anne Durandy

    出版 2003
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  14. 14
    A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly

    A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly 由 Shu Zhang, Corinne Pondarré, Gaëlle Pennarun, Hélène Labussière‐Wallet, Gabriella Vera, Benoît France, Marie Chansel, Isabelle Rouvet, Patrick Revy, Bernard S. López, Jean Soulier, Pascale Bertrand, Isabelle Callebaut, Jean‐Pierre de Villartay

    出版 2016
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  15. 15
    Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS

    Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS 由 Matthieu Gratia, Mathieu P. Rodero, Cécile Conrad, Elias Bou Samra, Mathieu Maurin, Gillian Rice, Darragh Duffy, Patrick Revy, Florence Petit, Russell C. Dale, Yanick J. Crow, Mounira Amor-Guéret, Nicolas Manel

    出版 2019
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  16. 16
    Structural characterization of filaments formed by human Xrcc4–Cernunnos/XLF complex involved in nonhomologous DNA end-joining

    Structural characterization of filaments formed by human Xrcc4–Cernunnos/XLF complex involved in nonhomologous DNA end-joining 由 Virginie Ropars, Pascal Drevet, Pierre Legrand, Sonia Baconnais, Jérémy Amram, Guilhem Faure, José A. Márquez, Olivier Piétrement, Raphaël Guérois, Isabelle Callebaut, Éric Le Cam, Patrick Revy, Jean‐Pierre de Villartay, Jean‐Baptiste Charbonnier

    出版 2011
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  17. 17
    PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice

    PAXX and Xlf interplay revealed by impaired CNS development and immunodeficiency of double KO mice 由 Vincent Abramowski, Etienne Olivier, Ramy Elsaid, Junjie Yang, Aurélie Berland, Laëtitia Kermasson, Benoît Roch, Stefania Musilli, Jean-Paul Moussu, Karelia Lipson-Ruffert, Patrick Revy, Ana Cumano, François D. Boussin, Jean‐Pierre de Villartay

    出版 2017
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  18. 18
    Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly

    Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly 由 Dietke Buck, Laurent Malivert, Régina de Chasseval, Anne Barraud, Marie‐Claude Fondanèche, Özden Sanal, Alessandro Plebani, Jean-Louis Stéphan, Markus Hufnagel, Françoise Le Deist, Alain Fischer, Anne Durandy, Jean‐Pierre de Villartay, Patrick Revy

    出版 2006
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  19. 19
    Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis

    Heterozygous<i>RTEL1</i>mutations are associated with familial pulmonary fibrosis 由 Caroline Kannengiesser, Raphaël Borie, Christelle Ménard, Marion Réocreux, Patrick Nitschké, Steven Gazal, Hervé Mal, Camille Taillé, Jacques Cadranel, Hilario Nunès, Dominique Valeyre, J.-F. Cordier, Isabelle Callebaut, Cathérine Boileau, Vincent Cottin, Bernard Grandchamp, Patrick Revy, Bruno Crestani

    出版 2015
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  20. 20
    Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous<i>ATR</i>Mutations

    Primary Microcephaly, Impaired DNA Replication, and Genomic Instability Caused by Compound Heterozygous<i>ATR</i>Mutations 由 Houda Benhelli‐Mokrani, Laetitia Gaillard, Patricia Biasutto, Tangui Le Guen, Fabien Touzot, Nadia Vasquez, Jun Komatsu, Emmanuel Conseiller, Capucine Pïcard, Éliane Gluckman, Christine Francannet, Alain Fischer, Anne Durandy, Jean Soulier, Jean‐Pierre de Villartay, Marina Cavazzana, Patrick Revy

    出版 2012
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