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Jean-Pierre De Villartay

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Gabriella Vera; Vincent Abramowski; Christine Bole-Feysot; Benoit Florkin; Sylvain Latour; Annick Lim; Laurent Malivert; Christelle Martin; Patrick Revy; Paola Rivera-Munoz; Jean-Pierre De Villartay
Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans.
Houda Mokrani-Benhelli; Capucine Pïcard; Jean Soulier; Fabien Touzot; Nadia Vasquez; Patricia Biasutto; Marina Cavazzana-Calvo; Emmanuel Conseiller; Jean-Pierre De Villartay; Anne Durandy; Alain Fischer; Christine Francannet; Laetitia Gaillard; Eliane Gluckman; Jun Komatsu; Tangui Le Guen; Patrick Revy
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.
Jana Pachlopnik Schmid; Capucine Picard; Patrick Revy; Christine Bole-Feysot; Valéry Cormier-Daire; Jean-Pierre De Villartay; Franck Debeurme; Marianne Debré; Anne Durandy; Alain Fischer; Laurence Legeai-Mallet; Roxane Lemoine; Annick Lim; Nadine Nehme; Patrick Nitschke; Geneviève de Saint Basile
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").

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2013: Gabriella Vera; Vincent Abramowski; Christine Bole-Feysot; Benoit Florkin; Sylvain Latour; Annick Lim; Laurent Malivert; Christelle Martin; Patrick Revy; Paola Rivera-Munoz; Jean-Pierre De Villartay
Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans.
Molecular and cellular biology 2013;33(4):701-11.
2013: Houda Mokrani-Benhelli; Capucine Pïcard; Jean Soulier; Fabien Touzot; Nadia Vasquez; Patricia Biasutto; Marina Cavazzana-Calvo; Emmanuel Conseiller; Jean-Pierre De Villartay; Anne Durandy; Alain Fischer; Christine Francannet; Laetitia Gaillard; Eliane Gluckman; Jun Komatsu; Tangui Le Guen; Patrick Revy
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.
Human mutation 2013;34(2):374-84.
2012: Jana Pachlopnik Schmid; Capucine Picard; Patrick Revy; Christine Bole-Feysot; Valéry Cormier-Daire; Jean-Pierre De Villartay; Franck Debeurme; Marianne Debré; Anne Durandy; Alain Fischer; Laurence Legeai-Mallet; Roxane Lemoine; Annick Lim; Nadine Nehme; Patrick Nitschke; Geneviève de Saint Basile
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
The Journal of experimental medicine 2012;209(13):2323-30.
2012: Jennifer Heimall; Michael Keller; Barbara Ariue; Rebecca H Buckley; Nancy Bunin; Jean-Pierre De Villartay; Blythe H Devlin; Elizabeth A McCarthy; Donna McDonald-McGinn; Despina Moshous; Suhag Parikh; Rushani Saltzman; Elaine Zakai; M Louise Markert
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency.
Journal of clinical immunology 2012;32(5):1141-4.
2012: Deniz Çağdaş; Tuba Turul Özgür; Ozden Sanal; Mirjam van der Burg; Gülten Türkkanı Asal; Jean-Pierre De Villartay; Patrick Revy; Ilhan Tezcan
Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.
Pediatric transplantation 2012;16(5):E167-71.
2012: Fabien Touzot; Jean-Pierre De Villartay; Tangui Le Guen; Patrick Revy
[Dyskeratosis congenita: short telomeres are not the rule].
Médecine sciences : M/S 2012;28(6-7):618-24.
2012: Likun Du; Anne Durandy; Gunilla Enblad; Noel Filipe de Miranda; Andrew R Gennery; Mohammad Hojjat-Farsangi; Ashwin Kotnis; Chonghai Liu; Roujun Peng; Hodjattallah Rabbani; Patrick Revy; Richard Rosenquist; Cornelia Rosner; Christer Sundström; Manuel R Teixeira; Yixin Zeng; Mattias Berglund; Andrea Björkman; Jean-Pierre De Villartay; Qiang Pan-Hammarstrom
Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis.
The Journal of experimental medicine 2012;209(2):291-305.
2012: Fabien Touzot; Nadia Vasquez; Jean Soulier; Yves Bertrand; Jean Bourhis; Jean-Pierre De Villartay; Alain Fischer; Laetitia Gaillard; Tangui Le Guen; Thierry Leblanc; Patrick Revy
Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.
The Journal of allergy and clinical immunology 2012;129(2):473-82, 482.e1-3.
2011: Virginie Ropars; Jeremy Amram; Sonia Baconnais; Isabelle Callebaut; Jean-Pierre De Villartay; Pascal Drevet; Guilhem Faure; raphael guerois; Eric Le Cam; Pierre Legrand; José A Márquez; Olivier Piétrement; Patrick Revy; Jean-Baptiste Charbonnier
Structural characterization of filaments formed by human Xrcc4-Cernunnos/XLF complex involved in nonhomologous DNA end-joining.
Proceedings of the National Academy of Sciences of the United States of America 2011;108(31):12663-8.
2010: Laurent Malivert; Virginie Ropars; Marcela Nunez; Pascal Drevet; Simona Miron; Guilhem Faure; raphael guerois; Jean-Paul Mornon; Patrick Revy; Jean-Baptiste Charbonnier; Isabelle Callebaut; Jean-Pierre De Villartay
Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.
The Journal of biological chemistry 2010;285(34):26475-83.
2010: Fabien Touzot; Isabelle Callebaut; Jean Soulier; Laetitia Gaillard; Chantal Azerrad; Anne Durandy; Alain Fischer; Jean-Pierre De Villartay; Patrick Revy
Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(22):10097-102.
2010: Wouter W Wiegant; Matty Meyers; Nicole S Verkaik; Mirjam van der Burg; Firouz Darroudi; Ron J Romeijn; Ewa Bernatowska; Beata Wolska-Kusnierz; Bozena Mikoluc; Nicolaas G J Jaspers; Cees Vreeken; Hanna Ijspeert; Rebecca E E Esveldt-van Lange; Anna Friedl; Jean-Pierre De Villartay; Leon H F Mullenders; Jacques J M van Dongen; Dik C van Gent; Albert Pastink; Malgorzata Z Zdzienicka
A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity.
DNA repair 2010;9(4):365-73.
2009: Shay Covo; Jean-Pierre De Villartay; Penny A Jeggo; Zvi Livneh
Translesion DNA synthesis-assisted non-homologous end-joining of complex double-strand breaks prevents loss of DNA sequences in mammalian cells.
Nucleic acids research 2009;37(20):6737-45.
2009: Paola Rivera-Munoz; Pauline Soulas-Sprauel; Gwenaël Le Guyader; Vincent Abramowski; Sylvia Bruneau; Alain Fischer; Frédéric Pâques; Jean-Pierre De Villartay
Reduced immunoglobulin class switch recombination in the absence of Artemis.
Blood 2009;114(17):3601-9.
2009: Konstantin Akopiants; Rui-Zhe Zhou; Susovan Mohapatra; Kristoffer Valerie; Susan Lees-Miller; Kyung-Jong Lee; David J Chen; Patrick Revy; Jean-Pierre De Villartay; Lawrence F Povirk
Requirement for XLF/Cernunnos in alignment-based gap filling by DNA polymerases lambda and mu for nonhomologous end joining in human whole-cell extracts.
Nucleic acids research 2009;37(12):4055-62.
2009: Bénédicte Neven; Sandrine Leroy; Hélène Decaluwe; Françoise Le Deist; Capucine Picard; Despina Moshous; Nizar Mahlaoui; Marianne Debré; Jean-Laurent Casanova; Liliane Dal Cortivo; Yoann Madec; Salima Hacein-Bey-Abina; Geneviève de Saint Basile; Jean-Pierre De Villartay; Stéphane Blanche; Marina Cavazzana-Calvo; Alain Fischer
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency.
Blood 2009;113(17):4114-24.
2009: Fernando O Pinto; Thierry Leblanc; Delphine Chamousset; Gwenaelle Le Roux; Benoît Brethon; Bruno Cassinat; Jérôme Larghero; Jean-Pierre De Villartay; Dominique Stoppa-Lyonnet; André Baruchel; Gérard Socié; Eliane Gluckman; Jean Soulier
Diagnosis of Fanconi anemia in patients with bone marrow failure.
Haematologica 2009;94(4):487-95.
2009: Laurent Malivert; Isabelle Callebaut; Paola Rivera-Munoz; Alain Fischer; Jean-Paul Mornon; Patrick Revy; Jean-Pierre De Villartay
The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo.
Molecular and cellular biology 2009;29(5):1116-22.
2009: Jean-Pierre De Villartay; Noriko Shimazaki; Jean-Baptiste Charbonnier; Alain Fischer; Jean-Paul Mornon; Michael R Lieber; Isabelle Callebaut
A histidine in the beta-CASP domain of Artemis is critical for its full in vitro and in vivo functions.
DNA repair 2009;8(2):202-8.
2009: Mahnaz Sadeghi-Shanbestari; Khalil Ansarin; Seyed Hudieh Maljaei; Mandana Rafeey; Zakaria Pezeshki; Ahmmad Kousha; Reza Baradaran; Jean-Laurent Casanova; Jacqueline Feinberg; Jean-Pierre De Villartay
Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran.
Italian journal of pediatrics 2009;35():42.
2009: Jean-Pierre De Villartay
V(D)J recombination deficiencies.
Advances in experimental medicine and biology 2009;650():46-58.
2009: Michal Schwartz; Yifat S Oren; Assaf C Bester; Ayelet Rahat; Ruthy Sfez; Shlomo Yitzchaik; Jean-Pierre De Villartay; Batsheva Kerem
Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations.
PloS one 2009;4(2):e4516.
2008: Isabelle Plo; Mayuka Nakatake; Laurent Malivert; Jean-Pierre De Villartay; Stéphane Giraudier; Jean-Luc Villeval; Lisa Wiesmuller; William Vainchenker
JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders.
Blood 2008;112(4):1402-12.
2008: Fatine Benjelloun; Alexandrine Garrigue; Corinne Demerens-de Chappedelaine; Pauline Soulas-Sprauel; Michele Malassis-Séris; Daniel Stockholm; Julia Hauer; Johanna Blondeau; Julie Rivière; Annick Lim; Marc Le Lorc'h; Serge Romana; Nicole Brousse; Frederique Pâques; Anne Galy; Pierre Charneau; Alain Fischer; Jean-Pierre De Villartay; Marina Cavazzana-Calvo
Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells.
Molecular therapy : the journal of the American Society of Gene Therapy 2008;16(8):1490-9.
2008: Cedric Touvrey; Chrystelle Couedel; Pauline Soulas; Rachel Couderc; Maria Jasin; Jean-Pierre De Villartay; Patrice N Marche; Evelyne Jouvin-Marche; Serge M Candéias
Distinct effects of DNA-PKcs and Artemis inactivation on signal joint formation in vivo.
Molecular immunology 2008;45(12):3383-91.
2008: Chantal Lagresle-Peyrou; Fatine Benjelloun; Christophe Hue; Isabelle Andre-Schmutz; Delphine Bonhomme; Monique Forveille; Kheira Beldjord; Salima Hacein-Bey-Abina; Jean-Pierre De Villartay; Pierre Charneau; Anne Durandy; Alain Fischer; Marina Cavazzana-Calvo
Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients.
Molecular therapy : the journal of the American Society of Gene Therapy 2008;16(2):396-403.
2007: Pauline Soulas-Sprauel; Paola Rivera-Munoz; Laurent Malivert; Gwenaël Le Guyader; Vincent Abramowski; Patrick Revy; Jean-Pierre De Villartay
V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.
Oncogene 2007;26(56):7780-91.
2007: Pauline Soulas-Sprauel; Gwenaël Le Guyader; Paola Rivera-Munoz; Vincent Abramowski; Christelle Olivier-Martin; Cécile Goujet-Zalc; Pierre Charneau; Jean-Pierre De Villartay
Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination.
The Journal of experimental medicine 2007;204(7):1717-27.
2007: Sophie Péron; Qiang Pan-Hammarstrom; Kohsuke Imai; Likun Du; Nadine Taubenheim; Ozden Sanal; Laszlo Marodi; Anne Bergelin-Besançon; Malika Benkerrou; Jean-Pierre De Villartay; Alain Fischer; Patrick Revy; Anne Durandy
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair.
The Journal of experimental medicine 2007;204(5):1207-16.
2007: Francesco Berardinelli; Alessandra di Masi; M Salvatore; S Banerjee; K Myung; Jean-Pierre De Villartay; Patrick Revy; Alessandro Plebani; Annarosa Soresina; D Taruscio; Caterina Tanzarella; Antonio Antoccia
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.
European journal of medical genetics 2007;50(3):176-87.
2006: Patrick Revy; Laurent Malivert; Jean-Pierre De Villartay
Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system.
Current opinion in allergy and clinical immunology 2006;6(6):416-20.
2006: Jean-Pierre De Villartay
Passera ou ne passera pas--accessibility is key.
Nature immunology 2006;7(10):1019-21.
2006: Jérôme Drouet; Philippe Frit; Christine Delteil; Jean-Pierre De Villartay; bernard salles; Patrick Calsou
Interplay between Ku, Artemis, and the DNA-dependent protein kinase catalytic subunit at DNA ends.
The Journal of biological chemistry 2006;281(38):27784-93.
2006: Patrick Revy; Jean-Pierre De Villartay
[Cernunnos, a novel DNA repair factor essential for the immune system].
Médecine sciences : M/S 2006;22(6-7):569-70.
2006: Sébastien Soubeyrand; Louise Pope; Régina de Chasseval; Dominique Gosselin; Fumin Dong; Jean-Pierre De Villartay; Robert J G Haché
Artemis phosphorylated by DNA-dependent protein kinase associates preferentially with discrete regions of chromatin.
Journal of molecular biology 2006;358(5):1200-11.
2006: Isabelle Callebaut; Laurent Malivert; Alain Fischer; Jean-Paul Mornon; Patrick Revy; Jean-Pierre De Villartay
Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.
The Journal of biological chemistry 2006;281(20):13857-60.
2006: Françoise Le Deist; Jean-Pierre De Villartay; Annick Lim; Julie Déchanet; Alain Fischer
[Hypomorphic RAG1 mutations and CMV infection: a new phenotype of severe combined immunodeficiency].
Médecine sciences : M/S 2006;22(3):239-40.
2006: Dietke Buck; Laurent Malivert; Régina de Chasseval; Anne Barraud; Marie-Claude Fondanèche; Ozden Sanal; Alessandro Plebani; Jean-Louis Stéphan; Markus Hufnagel; Françoise Le Deist; Alain Fischer; Anne Durandy; Jean-Pierre De Villartay; Patrick Revy
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
Cell 2006;124(2):287-99.
2006: Dietke Buck; Despina Moshous; Régina de Chasseval; Yunmei Ma; Françoise Le Deist; Marina Cavazzana-Calvo; Alain Fischer; Jean-Laurent Casanova; Michael R Lieber; Jean-Pierre De Villartay
Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.
European journal of immunology 2006;36(1):224-35.
2006: Chantal Lagresle-Peyrou; frank yates; Michèle Malassis-Séris; Christophe Hue; Estelle Morillon; Alexandrine Garrigue; Allen Liu; Philippe Hajdari; Daniel Stockholm; Olivier Danos; Brigitte Lemercier; Marie-lise GOUGEON; Frédéric Rieux-Laucat; Jean-Pierre De Villartay; Alain Fischer; Marina Cavazzana-Calvo
Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicity.
Blood 2006;107(1):63-72.
2005: Jean-Pierre De Villartay; Annick Lim; Hamoud Al-Mousa; Sophie Dupont; Julie Déchanet-Merville; Edith Coumau-Gatbois; Marie-lise GOUGEON; Arnaud Lemainque; Céline Eidenschenk; Emmanuelle Jouanguy; Laurent Abel; Jean-Laurent Casanova; Alain Fischer; Françoise Le Deist
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
The Journal of clinical investigation 2005;115(11):3291-9.
2005: Alain Fischer; Françoise Le Deist; Salima Hacein-Bey-Abina; Isabelle André-Schmutz; Geneviève de Saint Basile; Jean-Pierre De Villartay; Marina Cavazzana-Calvo
Severe combined immunodeficiency. A model disease for molecular immunology and therapy.
Immunological reviews 2005;203():98-109.
2005: Patrick Revy; Dietke Buck; Françoise Le Deist; Jean-Pierre De Villartay
The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.
Advances in immunology 2005;87():237-95.
2004: Catherine Poinsignon; Régina de Chasseval; Sebastien Soubeyrand; Despina Moshous; Alain Fischer; Robert J G Haché; Jean-Pierre De Villartay
Phosphorylation of Artemis following irradiation-induced DNA damage.
European journal of immunology 2004;34(11):3146-55.
2004: Françoise Le Deist; Catherine Poinsignon; Despina Moshous; Alain Fischer; Jean-Pierre De Villartay
Artemis sheds new light on V(D)J recombination.
Immunological reviews 2004;200():142-55.
2004: Caroline Laffort; Françoise Le Deist; Michel Favre; Sophie Caillat-Zucman; Isabelle Radford-Weiss; Marianne Debré; Sylvie Fraitag; Stéphane Blanche; Marina Cavazzana-Calvo; Geneviève de Saint Basile; Jean-Pierre De Villartay; Silvia Giliani; Gérard Orth; Jean-Laurent Casanova; Christine Bodemer; Alain Fischer
Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency.
Lancet 2004;363(9426):2051-4.
2004: Catherine Poinsignon; Despina Moshous; Isabelle Callebaut; Régina de Chasseval; Isabelle Villey; Jean-Pierre De Villartay
The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination.
The Journal of experimental medicine 2004;199(3):315-21.
2003: Jean-Pierre De Villartay; Alain Fischer; Anne Durandy
The mechanisms of immune diversification and their disorders.
Nature reviews. Immunology 2003;3(12):962-72.
2003: Jean-Pierre De Villartay; Catherine Poinsignon; Régina de Chasseval; Dietke Buck; Gwenaël Le Guyader; Isabelle Villey
Human and animal models of V(D)J recombination deficiency.
Current opinion in immunology 2003;15(5):592-8.
2003: Laurent Mauvieux; Isabelle Villey; Jean-Pierre De Villartay
TEA regulates local TCR-Jalpha accessibility through histone acetylation.
European journal of immunology 2003;33(8):2216-22.
2003: Despina Moshous; Isabelle Callebaut; Régina de Chasseval; Catherine Poinsignon; Isabelle Villey; Alain Fischer; Jean-Pierre De Villartay
The V(D)J recombination/DNA repair factor artemis belongs to the metallo-beta-lactamase family and constitutes a critical developmental checkpoint of the lymphoid system.
Annals of the New York Academy of Sciences 2003;987():150-7.
2002: Jean-Pierre De Villartay
V(D)J recombination and DNA repair: lessons from human immune deficiencies and other animal models.
Current opinion in allergy and clinical immunology 2002;2(6):473-9.
2002: frank yates; Michèle Malassis-Séris; Daniel Stockholm; Cécile Bouneaud; Frédérique Larousserie; Patricia Noguiez-Hellin; Olivier Danos; Donald B Kohn; Alain Fischer; Jean-Pierre De Villartay; Marina Cavazzana-Calvo
Gene therapy of RAG-2-/- mice: sustained correction of the immunodeficiency.
Blood 2002;100(12):3942-9.
2002: Isabelle Callebaut; Despina Moshous; Jean-Paul Mornon; Jean-Pierre De Villartay
Metallo-beta-lactamase fold within nucleic acids processing enzymes: the beta-CASP family.
Nucleic acids research 2002;30(16):3592-601.
2002: Salima Hacein-Bey; frank yates; Jean-Pierre De Villartay; A Fischer; M Cavazzana-Calvo
Gene therapy of severe combined immunodeficiencies: from mice to humans.
The Netherlands journal of medicine 2002;60(7):299-301.
2002: Lanying Li; Despina Moshous; Yungui Zhou; Junhua Wang; Gang Xie; Eduardo Salido; Diana Hu; Jean-Pierre De Villartay; Morton J Cowan
A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans.
Journal of immunology (Baltimore, Md. : 1950) 2002;168(12):6323-9.
2002: Salima Hacein-Bey-Abina; Françoise Le Deist; Frédérique Carlier; Cécile Bouneaud; Christophe Hue; Jean-Pierre De Villartay; Adrian J Thrasher; Nico M Wulffraat; Ricardo U Sorensen; Sophie Dupuis-Girod; Alain Fischer; E Graham Davies; Wietse Kuis; Lilly Leiva; Marina Cavazzana-Calvo
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.
The New England journal of medicine 2002;346(16):1185-93.
2001: Laurent Mauvieux; Isabelle Villey; Jean-Pierre De Villartay
T early alpha (TEA) regulates initial TCRVAJA rearrangements and leads to TCRJA coincidence.
European journal of immunology 2001;31(7):2080-6.
2001: Marina Cavazzana-Calvo; Salima Hacein-Bey; frank yates; Jean-Pierre De Villartay; Françoise Le Deist; Alain Fischer
Gene therapy of severe combined immunodeficiencies.
The journal of gene medicine 2001;3(3):201-6.
2001: Barbara Corneo; Despina Moshous; Tayfun Güngör; Nico M Wulffraat; P Philippet; Françoise Le Deist; Alain Fischer; Jean-Pierre De Villartay
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
Blood 2001;97(9):2772-6.
2001: Despina Moshous; Isabelle Callebaut; Régina de Chasseval; Barbara Corneo; Marina Cavazzana-Calvo; Françoise Le Deist; Ilhan Tezcan; Ozden Sanal; Y Bertrand; N Philippe; Alain Fischer; Jean-Pierre De Villartay
Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.
Cell 2001;105(2):177-86.
2000: Barbara Corneo; Despina Moshous; Isabelle Callebaut; Régina de Chasseval; Alain Fischer; Jean-Pierre De Villartay
Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.
The Journal of biological chemistry 2000;275(17):12672-5.
2000: Despina Moshous; L Li; R Chasseval; N Philippe; Nada Jabado; Morton J Cowan; Alain Fischer; Jean-Pierre De Villartay
A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p.
Human molecular genetics 2000;9(4):583-8.
2000: A Fischer; Salima Hacein-Bey; Françoise Le Deist; Geneviève de Saint Basile; Jean-Pierre De Villartay; Marina Cavazzana-Calvo
[Gene therapy for immune deficiencies].
Bulletin de l'Académie nationale de médecine 2000;184(7):1417-28; discussion 1428-30.
1999: Isabelle Villey; Régina de Chasseval; Jean-Pierre De Villartay
RORgammaT, a thymus-specific isoform of the orphan nuclear receptor RORgamma / TOR, is up-regulated by signaling through the pre-T cell receptor and binds to the TEA promoter.
European journal of immunology 1999;29(12):4072-80.
1999: Frédéric Rieux-Laucat; S Blachère; S Danielan; Jean-Pierre De Villartay; M Oleastro; E Solary; Brigitte Bader-Meunier; Peter Arkwright; C Pondaré; Françoise Bernaudin; H Chapel; S Nielsen; M Berrah; Alain Fischer; Françoise Le Deist
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations.
Blood 1999;94(8):2575-82.
1999: J Peake; Alastair Waugh; Françoise Le Deist; A Priestley; Frédéric Rieux-Laucat; Nicolas Foray; EP Capulas; BK Singleton; Jean-Pierre De Villartay; Andrew J Cant; EP Malaise; Alain Fischer; Claire Hivroz; Penny A Jeggo
Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts.
Cancer research 1999;59(14):3454-60.
1998: N Nicolas; Despina Moshous; Marina Cavazzana-Calvo; D Papadopoulo; Régina de Chasseval; Françoise Le Deist; Alain Fischer; Jean-Pierre De Villartay
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 deficiency.
The Journal of experimental medicine 1998;188(4):627-34.
1998: Frédéric Rieux-Laucat; P Bahadoran; Nicole Brousse; Françoise Selz; Alain Fischer; Françoise Le Deist; Jean-Pierre De Villartay
Highly restricted human T cell repertoire in peripheral blood and tissue-infiltrating lymphocytes in Omenn's syndrome.
The Journal of clinical investigation 1998;102(2):312-21.
1998: Jean-Pierre De Villartay; Frédéric Rieux-Laucat; Alain Fischer; Françoise Le Deist
Clinical effects of mutations to CD95 (Fas): relevance to autoimmunity?
Springer seminars in immunopathology 1998;19(3):301-10.
1997: Malika Benkerrou; Françoise Le Deist; Jean-Pierre De Villartay; Sophie Caillat-Zucman; Frédéric Rieux-Laucat; Nada Jabado; Marina Cavazzana-Calvo; Alain Fischer
Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation.
European journal of immunology 1997;27(8):2043-7.
1997: Isabelle Villey; P Quartier; Françoise Selz; Jean-Pierre De Villartay
Germ-line transcription and methylation status of the TCR-J alpha locus in its accessible configuration.
European journal of immunology 1997;27(7):1619-25.
1996: Isabelle Villey; D Caillol; Françoise Selz; Pierre Ferrier; Jean-Pierre De Villartay
Defect in rearrangement of the most 5' TCR-J alpha following targeted deletion of T early alpha (TEA): implications for TCR alpha locus accessibility.
Immunity 1996;5(4):331-42.
1996: S Markiewicz; Rémy Bosselut; Françoise Le Deist; Jean-Pierre De Villartay; Claire Hivroz; Jacques Ghysdael; Alain Fischer; Geneviève de Saint Basile
Tissue-specific activity of the gammac chain gene promoter depends upon an Ets binding site and is regulated by GA-binding protein.
The Journal of biological chemistry 1996;271(25):14849-55.
1996: N Nicolas; N J Finnie; Marina Cavazzana-Calvo; D Papadopoulo; Françoise Le Deist; Alain Fischer; S P Jackson; Jean-Pierre De Villartay
Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts.
European journal of immunology 1996;26(5):1118-22.
1995: S Ktorza; S Sarun; Frédéric Rieux-Laucat; Jean-Pierre De Villartay; Patrice Debré; C Schmitt
CD34-positive early human thymocytes: T cell receptor and cytokine receptor gene expression.
European journal of immunology 1995;25(9):2471-8.
1995: Françoise Le Deist; Claire Hivroz; M Partiseti; Frédéric Rieux-Laucat; K M Debatin; D Choquet; Jean-Pierre De Villartay; Alain Fischer
T cell activation deficiencies.
Clinical immunology and immunopathology 1995;76(3 Pt 2):S163-4.
1995: Frédéric Rieux-Laucat; Françoise Le Deist; Claire Hivroz; I A Roberts; K M Debatin; Alain Fischer; Jean-Pierre De Villartay
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.
Science (New York, N.Y.) 1995;268(5215):1347-9.
1994: Jean-Pierre De Villartay; Frédéric Rieux-Laucat; Alain Fischer
Around the V(D)J recombinase machinery.
Research in immunology 1994;145(2):151-4; discussion 155-8.
1993: P Bahadoran; Frédéric Rieux-Laucat; Françoise Le Deist; S Blanche; Alain Fischer; Jean-Pierre De Villartay
Lack of selective V beta deletion in peripheral CD4+ T cells of human immunodeficiency virus-infected infants.
European journal of immunology 1993;23(8):2041-4.
1993: Régina de Chasseval; Jean-Pierre De Villartay
Functional characterization of the promoter for the human germ-line T cell receptor J alpha (TEA) transcript.
European journal of immunology 1993;23(6):1294-8.
1993: Frédéric Rieux-Laucat; Françoise Le Deist; Françoise Selz; Alain Fischer; Jean-Pierre De Villartay
Normal T cell receptor V beta usage in a primary immunodeficiency associated with HLA class II deficiency.
European journal of immunology 1993;23(4):928-34.
1993: Marina Cavazzana-Calvo; Françoise Le Deist; Geneviève de Saint Basile; D Papadopoulo; Jean-Pierre De Villartay; Alain Fischer
Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency.
The Journal of clinical investigation 1993;91(3):1214-8.
1993: C Soudais; Jean-Pierre De Villartay; Françoise Le Deist; Alain Fischer; Barbara Lisowska-Grospierre
Independent mutations of the human CD3-epsilon gene resulting in a T cell receptor/CD3 complex immunodeficiency.
Nature genetics 1993;3(1):77-81.
1993: C Soudais; Jean-Pierre De Villartay; Françoise Le Deist; Alain Fischer; Barbara Lisowska-Grospierre
Genetic analysis of the human CD3-epsilon gene in a T cell receptor/CD3 immunodeficiency.
Immunodeficiency 1993;4(1-4):117-9.
1992: Régina de Chasseval; Jean-Pierre De Villartay
High level transient gene expression in human lymphoid cells by SV40 large T antigen boost.
Nucleic acids research 1992;20(2):245-50.
1991: Jean-Pierre De Villartay; D Mossalayi; Régina de Chasseval; Ali Dalloul; Patrice Debré
The differentiation of human pro-thymocytes along the TCR-alpha/beta pathway in vitro is accompanied by the site-specific deletion of the TCR-delta locus.
International immunology 1991;3(12):1301-5.
1991: Françoise Le Deist; Geneviève de Saint Basile; Fabienne Mazerolles; G Thoenes; Jean-Pierre De Villartay; Nadine Cerf-Bensussan; Barbara Lisowska-Grospierre; C Griscelli; Alain Fischer
Primary membrane T cell immunodeficiencies.
Clinical immunology and immunopathology 1991;61(2 Pt 2):S56-60.
1991: T Yano; A Pullman; R Andrade; M Uppenkamp; Jean-Pierre De Villartay; Gregory Reaman; S Crush-Stanton; D I Cohen; Mark Raffeld; J Cossman
A common V delta 2-D delta 2-D delta 3 T cell receptor gene rearrangement in precursor B acute lymphoblastic leukaemia.
British journal of haematology 1991;79(1):44-9.
1991: Geneviève de Saint Basile; Françoise Le Deist; Jean-Pierre De Villartay; Nadine Cerf-Bensussan; O Journet; Nicole Brousse; C Griscelli; Alain Fischer
Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).
The Journal of clinical investigation 1991;87(4):1352-9.
1990: Jean-Pierre De Villartay; D I Cohen
Gene regulation within the TCR-alpha/delta locus by specific deletion of the TCR-delta cluster.
Research in immunology 1990;141(7):618-23.
1989: Jean-Pierre De Villartay; A B Pullman; R Andrade; E Tschachler; O Colamenici; L Neckers; D I Cohen; J Cossman
Gamma/delta lineage relationship within a consecutive series of human precursor T-cell neoplasms.
Blood 1989;74(7):2508-18.
1989: C Glenn Begley; Peter D Aplan; Michael P Davey; Jean-Pierre De Villartay; D I Cohen; Thomas Waldmann; Ilan R Kirsch
Demonstration of delta rec-pseudo J alpha rearrangement with deletion of the delta locus in a human stem-cell leukemia.
The Journal of experimental medicine 1989;170(1):339-42.
1988: RD Hockett; Jean-Pierre De Villartay; K Pollock; David G Poplack; D I Cohen; Stanley J Korsmeyer
Human T-cell antigen receptor (TCR) delta-chain locus and elements responsible for its deletion are within the TCR alpha-chain locus.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(24):9694-8.
1988: Jean-Pierre De Villartay; RD Hockett; D Coran; Stanley J Korsmeyer; D I Cohen
Deletion of the human T-cell receptor delta-gene by a site-specific recombination.
Nature 1988;335(6186):170-4.
1987: Jean-Pierre De Villartay; D Lewis; RD Hockett; Thomas Waldmann; Stanley J Korsmeyer; D I Cohen
Deletional rearrangement in the human T-cell receptor alpha-chain locus.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(23):8608-12.