Search filters

List of works by Jean-Pierre de Villartay

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.

scientific article published on 21 February 2007

A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

scientific article

A histidine in the beta-CASP domain of Artemis is critical for its full in vitro and in vivo functions

scientific article

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

scientific article

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

scientific article

A novel radiosensitive SCID patient with a pronounced G(2)/M sensitivity

scientific article

A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

scientific article

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

scientific article published on 21 October 2013

A short peptide at the C terminus is responsible for the nuclear localization of RAG2.

scientific article published on July 2002

Activation induces apoptosis in Herpesvirus saimiri‐transformed T cells independent of CD95 (Fas, APO‐1) ⬇️

scientific article published on November 1, 1997

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation

scientific article published on 25 July 2015

Around the V(D)J recombinase machinery.

scientific article published on February 1994

Artemis phosphorylated by DNA-dependent protein kinase associates preferentially with discrete regions of chromatin.

scientific article

Artemis sheds new light on V(D)J recombination

scientific article published in August 2004

Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency.

scientific article

Atypical combined immunodeficiency due to Artemis defect: a case presenting as hyperimmunoglobulin M syndrome and with LGLL.

scientific article published in August 2013

Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression

scientific article published on 4 November 2022

CD34-positive early human thymocytes: T cell receptor and cytokine receptor gene expression

article

CD8 Memory Cells Develop Unique DNA Repair Mechanisms Favoring Productive Division

scientific article published on 20 October 2015

Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans

scientific article published on 3 December 2012

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis

scientific article

Cernunnos interacts with the XRCC4 x DNA-ligase IV complex and is homologous to the yeast nonhomologous end-joining factor Nej1.

scientific article published on 29 March 2006

Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly

scientific article

Cernunnos-XLF, a recently identified non-homologous end-joining factor required for the development of the immune system.

scientific article published on December 2006

Combined immunodeficiency associated with increased apoptosis of lymphocytes and radiosensitivity fibroblasts

scientific article published on 01 July 1999

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).

scientific article

Congenital defects in V(D)J recombination

scientific article published on 17 May 2015

Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signaling

scientific article

Correction of Fas (CD95) deficiency by haploidentical bone marrow transplantation.

scientific article

DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype

scientific article published on 31 December 2016

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

scientific article published on 30 July 2018

Deletion of the human T-cell receptor δ-gene by a site-specific recombination

scientific article published in Nature

Delineation of the Xrcc4-interacting region in the globular head domain of cernunnos/XLF.

scientific article

Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency

scientific article published on 3 August 2012

Diagnosis of Fanconi anemia in patients with bone marrow failure

scientific article published on 10 March 2009

Dissociation between onset of natural killer E-rosette forming cells and of T3-positive cells following HLA-mismatched T cell depleted bone marrow transplantation

scientific article published on 01 February 1987

Distinct effects of DNA-PKcs and Artemis inactivation on signal joint formation in vivo

scientific article published on 23 May 2008

Expanding the SRI domain family: a common scaffold for binding the phosphorylated C-terminal domain of RNA polymerase II.

scientific article published on 18 October 2014

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

scientific journal article

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

scientific article published on 25 April 2015

Gamma/delta lineage relationship within a consecutive series of human precursor T-cell neoplasms

scientific article published on 01 November 1989

Gene therapy of RAG-2-/- mice: sustained correction of the immunodeficiency

scientific article published on 22 August 2002

Gene therapy of severe combined immunodeficiencies

scientific article published on 01 May 2001

Gene therapy of severe combined immunodeficiencies: from mice to humans.

scientific article published in August 2002

Genetic analysis of the human CD3-epsilon gene in a T cell receptor/CD3 immunodeficiency

scientific article published on 01 January 1993

Germ-line transcription and methylation status of the TCR-J alpha locus in its accessible configuration

scientific article published in July 1997

HLA-haploidentical bone marrow transplantation for severe combined immunodeficiency using E rosette fractionation and cyclosporine.

scientific article published in February 1986

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

scientific article published on 10 November 2011

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

scientific article

Human and animal models of V(D)J recombination deficiency

scientific article published on October 2003

Human regulator of telomere elongation helicase 1 (RTEL1) is required for the nuclear and cytoplasmic trafficking of pre-U2 RNA.

scientific article

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

scientific article

Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations

scientific article

Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency

scientific article

Indispensable epigenetic control of thymic epithelial cell development and function by polycomb repressive complex 2

scientific article published on 24 June 2021

Inherited CD70 deficiency in humans reveals a critical role for the CD70-CD27 pathway in immunity to Epstein-Barr virus infection

scientific article published on 23 December 2016

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

scientific article published on 17 April 2017

Interplay between Ku, Artemis, and the DNA-dependent protein kinase catalytic subunit at DNA ends

scientific article published on 19 July 2006

JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders.

scientific article

Lack of detectable defect in DNA double-strand break repair and DNA-dependent protein kinase activity in radiosensitive human severe combined immunodeficiency fibroblasts

Lack of selective V beta deletion in peripheral CD4+ T cells of human immunodeficiency virus-infected infants

scientific article published in August 1993

Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient.

scientific article

Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicity

scientific article

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency

scientific article published on 23 January 2009

Lymphopoiesis in transgenic mice over-expressing Artemis

scientific article

Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations

scientific article published on 01 October 1999

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

scientific article

Mucosal-associated invariant T cell-rich congenic mouse strain allows functional evaluation.

scientific article published on 12 October 2015

Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening

scientific article published on 24 March 2017

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain

scientific article published on 5 February 2016

Normal T cell receptor Vβ usage in a primary immunodeficiency associated with HLA class II deficiency

scientific article published on 01 April 1993

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

scientific article published on 27 October 2017

PRKDC mutations associated with immunodeficiency, granuloma and aire-dependent autoimmunity.

scientific article published on 17 September 2014

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

scientific article published on 2 April 2015

PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects

scientific article published on 12 June 2018

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

scientific article

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis

article by Despina Moshous et al published 1 February 2003 in Journal of Clinical Investigation

Passera ou ne passera pas--accessibility is key

scientific article published on 01 October 2006

Phosphorylation of Artemis following irradiation-induced DNA damage

scientific article

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

scientific article

Primary membrane T cell immunodeficiencies ⬇️

scientific article published on November 1, 1991

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations

scientific article

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

scientific article published on 2 February 2016

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

scientific article (publication date: December 1999)

RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability

scientific article

Reduced immunoglobulin class switch recombination in the absence of Artemis

scientific article published on 19 August 2009

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

scientific article published on 4 August 2017

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

scientific article published on 17 December 2017

Requirement for XLF/Cernunnos in alignment-based gap filling by DNA polymerases lambda and mu for nonhomologous end joining in human whole-cell extracts

scientific article published on 06 May 2009

Restoration of human B-cell differentiation into NOD-SCID mice engrafted with gene-corrected CD34+ cells isolated from Artemis or RAG1-deficient patients

scientific article published on 27 November 2007

Role for DNA repair factor XRCC4 in immunoglobulin class switch recombination.

scientific article

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

scientific article published on 21 October 2013

Self-tolerance to host and donor following HLA-mismatched bone marrow transplantation

scientific article published on 01 February 1986

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

scientific article published on January 2006

Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy

scientific article published on 12 December 2013

Severe combined immunodeficiency. A model disease for molecular immunology and therapy

scientific article

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

scientific article published in June 2004

Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells.

scientific article published on 17 June 2008

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

scientific article

T cell activation deficiencies.

scientific article published on September 1995

T cell receptor delta gene rearrangement and T early alpha (TEA) expression in immature alpha beta lineage thymocytes: implications for alpha beta/gamma delta lineage commitment.

scientific article published in January 1996

T early alpha (TEA) regulates initial TCRVAJA rearrangements and leads to TCRJA coincidence

scientific article published on 01 July 2001

TEA regulates local TCR-Jalpha accessibility through histone acetylation

scientific article published on 01 August 2003

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure

scientific article published on 13 November 2018

The C-terminal domain of Cernunnos/XLF is dispensable for DNA repair in vivo

scientific article published on 22 December 2008

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

scientific article

The expanding spectrum of human coronin 1A deficiency

scientific article published on December 2014

The mechanisms of immune diversification and their disorders

scientific article published on December 2003

The metallo-beta-lactamase/beta-CASP domain of Artemis constitutes the catalytic core for V(D)J recombination

scientific article

The repair of DNA damages/modifications during the maturation of the immune system: lessons from human primary immunodeficiency disorders and animal models.

scientific article

Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.

scientific article

Tissue-specific activity of the gammac chain gene promoter depends upon an Ets binding site and is regulated by GA-binding protein.

scientific article

Translesion DNA synthesis-assisted non-homologous end-joining of complex double-strand breaks prevents loss of DNA sequences in mammalian cells

scientific article published on 17 September 2009

Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation.

scientific article published on 27 April 2011

V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.

scientific article published on December 2007

V(D)J recombination and DNA repair: lessons from human immune deficiencies and other animal models

scientific article published on December 2002

V(D)J recombination deficiencies

scientific article

Variable correction of Artemis deficiency by I-Sce1-meganuclease-assisted homologous recombination in murine hematopoietic stem cells.

scientific article published on 13 March 2014

When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing

scientific article published on 11 May 2015

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

scientific article published on 21 March 2013

[Cernunnos, a novel DNA repair factor essential for the immune system].

scientific article

[Dyskeratosis congenita: short telomeres are not the rule].

scientific article

[Gene therapy for immune deficiencies]

scientific article published on 01 January 2000

[Hypomorphic RAG1 mutations and CMV infection: a new phenotype of severe combined immunodeficiency]

scientific article published on 01 March 2006

Paulina is supported by:

About Paulina

Help