Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly (Q24302120)

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Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly

Language	Label	Description	Also known as
English	Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly	scientific article	Cernunnos, a Novel Nonhomologous End-Joining Factor, Is Mutated in Human Immunodeficiency with Microcephaly

Statements

scholarly article

1 reference

26 November 2016

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

1 reference

26 November 2016

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Non-homologous end joining factor 1

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GOA release 2020-03-11

T cell differentiation

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GOA release 2020-03-11

Non-homologous end joining factor 1

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GOA release 2020-03-11

Jean-Pierre de Villartay

13

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11

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Laurent Malivert

object named as

Laurent Malivert

2

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object named as

Patrick Revy

14

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object named as

Anne Durandy

12

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Alessandro Plebani

7

object named as

Alessandro Plebani

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6

object named as

Ozden Sanal

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Marie-Claude Fondanèche

5

object named as

Marie-Claude Fondanèche

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author name string

Dietke Buck

1

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Régina de Chasseval

3

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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

10

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language of work or name

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publication date

27 January 2006

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124

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2

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287-99

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

1 reference

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

1 reference

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

1 reference

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The DNA double-strand break response in the nervous system

1 reference

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

1 reference

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

1 reference

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7 January 2021

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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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.

1 reference

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7 January 2021

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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

1 reference

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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NEJ1 controls non-homologous end joining in Saccharomyces cerevisiae

1 reference

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Positional cloning of the gene for Nijmegen breakage syndrome

1 reference

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The mechanisms of immune diversification and their disorders

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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DNA end-joining catalyzed by human cell-free extracts

1 reference

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

1 reference

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

1 reference

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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

1 reference

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

1 reference

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

1 reference

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7 January 2021

based on heuristic

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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

1 reference

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

1 reference

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

1 reference

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Molecular mechanisms of mammalian DNA repair and the DNA damage checkpoints

1 reference

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

1 reference

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A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection

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based on heuristic

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