Publications by authors named "Jean-Pierre de Villartay"

105Publications

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

Cell Rep 2020 Dec;33(13):108559

INSERM UMR 1163, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée la Ligue contre le Cancer, Paris, France; University of Paris-Sorbonne Paris Cité University, Imagine Institute, Paris, France. Electronic address:

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December 2020

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

J Allergy Clin Immunol 2020 Jun 10. Epub 2020 Jun 10.

University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France.

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June 2020

Higher chromosome stability in embryonic neural stem and progenitor cells than in fibroblasts in response to acute or chronic genotoxic stress.

DNA Repair (Amst) 2020 04 28;88:102801. Epub 2020 Jan 28.

Laboratoire de RadioPathologie, UMRE008 Stabilité Génétique Cellules Souches et Radiations, U1274 Inserm, Université de Paris, Université Paris-Saclay, CEA, 18 route du Panorama 92265 Fontenay-aux Roses, France. Electronic address:

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April 2020

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

J Biol Chem 2020 02 8;295(8):2398-2406. Epub 2020 Jan 8.

Laboratory of Genome Dynamics in the Immune System, Imagine Institute, INSERM UMR 1163, Université de Paris, 75015 Paris, France

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February 2020

Coupling DNA Damage and Repair: an Essential Safeguard during Programmed DNA Double-Strand Breaks?

Trends Cell Biol 2020 02 6;30(2):87-96. Epub 2019 Dec 6.

Laboratory of Genome Dynamics in the Immune System, INSERM UMR1163, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France. Electronic address:

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February 2020

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

Front Immunol 2019 14;10:443. Epub 2019 Mar 14.

Laboratory "Genome Dynamics in the Immune System", INSERM UMR1163, Paris, France.

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September 2020

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

J Allergy Clin Immunol Pract 2019 Jul - Aug;7(6):1970-1985.e4. Epub 2019 Mar 12.

University of South Florida and Johns Hopkins All Children's Hospital, Saint Petersburg, Fla; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, Mass. Electronic address:

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September 2020

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

PLoS Genet 2018 07 30;14(7):e1007541. Epub 2018 Jul 30.

CRCT, Université de Toulouse, Inserm, CNRS, UPS; Equipe labellisée Ligue Contre le Cancer, Laboratoire d'excellence Toulouse Cancer, Toulouse, France.

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July 2018

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

Oncotarget 2018 Jan 17;9(3):3779-3793. Epub 2017 Dec 17.

Laboratory "Genome Dynamics in The Immune System", INSERM UMR1163, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.

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January 2018

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

Cell Death Differ 2018 02 27;25(2):444-452. Epub 2017 Oct 27.

Laboratory "Genome Dynamics in the Immune System", INSERM UMR1163, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Paris, France.

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February 2018