(Q24302120)

26 November 2016

title

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

1 reference

Non-homologous end joining factor 1

PubMed

PubMed publication ID

26 November 2016

0 references

1 reference

GOA release 2020-03-11

T cell differentiation

1 reference

Non-homologous end joining factor 1

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Jean-Pierre de Villartay

13

0 references

Alain Fischer

11

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Laurent Malivert

Laurent Malivert

2

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Patrick Revy

Patrick Revy

14

0 references

Anne Durandy

Anne Durandy

12

0 references

Alessandro Plebani

7

Alessandro Plebani

0 references

Ozden Sanal

6

Ozden Sanal

0 references

Marie-Claude Fondanèche

5

Marie-Claude Fondanèche

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author name string

Dietke Buck

1

0 references

Régina de Chasseval

3

0 references

Anne Barraud

4

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Jean-Louis Stéphan

8

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Markus Hufnagel

9

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Françoise le Deist

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

10

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language of work or name

English

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publication date

27 January 2006

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published in

Cell

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volume

124

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issue

2

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page(s)

287-99

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

The DNA-dependent protein kinase: requirement for DNA ends and association with Ku antigen

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

The DNA double-strand break response in the nervous system

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Mechanism and control of V(D)J recombination versus class switch recombination: similarities and differences

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Phosphorylation of histone H3 is required for proper chromosome condensation and segregation

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

The mechanism and regulation of chromosomal V(D)J recombination

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Nej1p, a cell type-specific regulator of nonhomologous end joining in yeast

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

NEJ1 controls non-homologous end joining in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Positional cloning of the gene for Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

The mechanisms of immune diversification and their disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Nonhomologous end joining and V(D)J recombination require an additional factor

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Consistent, persistent expression from modified retroviral vectors in murine hematopoietic stem cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

DNA end-joining catalyzed by human cell-free extracts

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

DNA double-stranded breaks induce histone H2AX phosphorylation on serine 139

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Cellular and biochemical impact of a mutation in DNA ligase IV conferring clinical radiosensitivity

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Defective DNA repair and increased genomic instability in Artemis-deficient murine cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Interaction of Ku protein and DNA-dependent protein kinase catalytic subunit with nucleic acids

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Impact of DNA ligase IV on the fidelity of end joining in human cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Development of a rapid, small-scale DNA repair assay for use on clinical samples

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

NHEJ regulation by mating type is exercised through a novel protein, Lif2p, essential to the ligase IV pathway

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

A DNA microarray-based genetic screen for nonhomologous end-joining mutants in Saccharomyces cerevisiae

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

1 reference

https://api.crossref.org/works/10.1016%2FJ.CELL.2005.12.030

7 January 2021