Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. (Q33945446)

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7 November 2019

title

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

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7 November 2019

1

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7 November 2019

Marina Cavazzana

5

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7 November 2019

Jean-Pierre de Villartay

12

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7 November 2019

3

R de Chasseval

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7 November 2019

author name string

I Callebaut

2

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7 November 2019

B Corneo

4

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7 November 2019

F Le Deist

6

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7 November 2019

I Tezcan

7

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7 November 2019

O Sanal

8

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7 November 2019

Y Bertrand

9

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7 November 2019

N Philippe

10

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7 November 2019

A Fischer

11

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7 November 2019

language of work or name

English

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publication date

1 April 2001

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7 November 2019

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7 November 2019

volume

105

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7 November 2019

page(s)

177-186

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7 November 2019

issue

2

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

7 November 2019

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scid mutation in mice confers hypersensitivity to ionizing radiation and a deficiency in DNA double-strand break repair

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7 January 2021

Identification of a nonsense mutation in the carboxyl-terminal region of DNA-dependent protein kinase catalytic subunit in the scid mouse

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7 January 2021

A severe combined immunodeficiency mutation in the mouse

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Prediction of complete gene structures in human genomic DNA

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Crystal structure of human glyoxalase II and its complex with a glutathione thiolester substrate analogue

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The 3-D structure of a zinc metallo-beta-lactamase from Bacillus cereus reveals a new type of protein fold

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

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7 January 2021

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

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Biochemical and genetic defects in the DNA-dependent protein kinase in murine scid lymphocytes

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Disruption of mouse SNM1 causes increased sensitivity to the DNA interstrand cross-linking agent mitomycin C

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Naturally occurring primary deficiencies of the immune system

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

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The scid mutation in mice causes a general defect in DNA repair

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

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

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Partners and pathwaysrepairing a double-strand break.

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A link between double-strand break-related repair and V(D)J recombination: the scid mutation

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7 January 2021

DNA double-strand break repair and V(D)J recombination: involvement of DNA-PK.

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

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The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V(D)J recombination

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7 January 2021

The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p.

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7 January 2021

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

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7 January 2021

A new gene involved in DNA double-strand break repair and V(D)J recombination is located on human chromosome 10p

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination

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

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7 January 2021

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7 January 2021

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