Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis (Q24554368)

11

0 references

Jean-Pierre de Villartay

12

0 references

Despina Moshous

1

0 references

Alain Fischer

10

0 references

Marina Cavazzana

5

Marina Cavazzana-Calvo

0 references

Serge Romana

Serge Romana

6

0 references

Danielle Canioni

8

Danielle Canioni

0 references

Christophe Pannetier

2

Christophe Pannetier

0 references

author name string

Régina de Chasseval Rd

3

0 references

Françoise le Deist Fl

4

0 references

Elizabeth Macintyre

7

0 references

Nicole Brousse

Journal of Clinical Investigation

9

0 references

language of work or name

English

0 references

publication date

February 2003

0 references

published in

0 references

volume

111

0 references

issue

3

0 references

page(s)

381-7

0 references

cites work

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

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Hairpin opening and overhang processing by an Artemis/DNA-dependent protein kinase complex in nonhomologous end joining and V(D)J recombination

24 March 2017

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The nonhomologous end-joining pathway of DNA repair is required for genomic stability and the suppression of translocations

24 March 2017

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Association of terminal deoxynucleotidyl transferase with Ku

24 March 2017

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The RAG proteins and V(D)J recombination: complexes, ends, and transposition

24 March 2017

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DNA repair protein Ku80 suppresses chromosomal aberrations and malignant transformation

24 March 2017

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The biochemistry and biological significance of nonhomologous DNA end joining: an essential repair process in multicellular eukaryotes

24 March 2017

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Targeted disruption of the gene encoding DNA ligase IV leads to lethality in embryonic mice

24 March 2017

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A critical role for DNA end-joining proteins in both lymphogenesis and neurogenesis

24 March 2017

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Late embryonic lethality and impaired V(D)J recombination in mice lacking DNA ligase IV

24 March 2017

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Targeted disruption of the catalytic subunit of the DNA-PK gene in mice confers severe combined immunodeficiency and radiosensitivity

24 March 2017

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Cancer-susceptibility genes. Gatekeepers and caretakers

24 March 2017

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Leaky Scid phenotype associated with defective V(D)J coding end processing in Artemis-deficient mice

24 March 2017

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RAG-1-deficient mice have no mature B and T lymphocytes

24 March 2017

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RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement

24 March 2017

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Production of high-titer helper-free retroviruses by transient transfection

24 March 2017

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Evidence for replicative repair of DNA double-strand breaks leading to oncogenic translocation and gene amplification

7 April 2017

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Mutational analysis of all conserved basic amino acids in RAG-1 reveals catalytic, step arrest, and joining-deficient mutants in the V(D)J recombinase

27 September 2017

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DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

27 September 2017

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Double-strand breaks and tumorigenesis

27 September 2017

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Identification of basic residues in RAG2 critical for DNA binding by the RAG1-RAG2 complex

27 September 2017

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DNA double strand break repair and chromosomal translocation: lessons from animal models

27 September 2017

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An evolutionary classification of the metallo-beta-lactamase fold proteins.

27 September 2017

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

27 September 2017

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Ku80 is required for addition of N nucleotides to V(D)J recombination junctions by terminal deoxynucleotidyl transferase

27 September 2017

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Regulated genomic instability and neoplasia in the lymphoid lineage

27 September 2017

1 reference

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Modulation of terminal deoxynucleotidyltransferase activity by the DNA-dependent protein kinase

27 September 2017

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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

27 September 2017

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A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation

27 September 2017

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Ku86-deficient mice exhibit severe combined immunodeficiency and defective processing of V(D)J recombination intermediates

27 September 2017

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Requirement for Ku80 in growth and immunoglobulin V(D)J recombination

27 September 2017

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The sizes of the CDR3 hypervariable regions of the murine T-cell receptor beta chains vary as a function of the recombined germ-line segments

27 September 2017

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Separation-of-function mutants reveal critical roles for RAG2 in both the cleavage and joining steps of V(D)J recombination

27 September 2017

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Ataxia-telangiectasia and the Nijmegen breakage syndrome: related disorders but genes apart

30 May 2018

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DNA-PKcs: a T-cell tumour suppressor encoded at the mouse scid locus

30 May 2018

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Unrepaired DNA breaks in p53-deficient cells lead to oncogenic gene amplification subsequent to translocations.

30 May 2018

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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

28 November 2018

1 reference

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Epstein-Barr virus is infrequently identified in non-Hodgkin's lymphomas associated with Hodgkin's disease

28 November 2018

1 reference

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V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

28 November 2018

1 reference

12 December 2020

The incidence of clonal T-cell receptor rearrangements in B-cell precursor acute lymphoblastic leukemia varies with age and genotype

1 reference

12 December 2020

Description of a novel FR1 IgH PCR strategy and its comparison with three other strategies for the detection of clonality in B cell malignancies

1 reference

12 December 2020

V(D)J recombination in Ku86-deficient mice: distinct effects on coding, signal, and hybrid joint formation

1 reference

12 December 2020

A targeted DNA-PKcs-null mutation reveals DNA-PK-independent functions for KU in V(D)J recombination

1 reference

12 December 2020