DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency (Q34108148)

31 July 2017

title

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

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31 July 2017

M O'Driscoll

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Patrick Concannon

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P Concannon

16

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author name string

K M Cerosaletti

2

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31 July 2017

P M Girard

3

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Y Dai

4

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M Stumm

5

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B Kysela

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B Hirsch

7

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A Gennery

8

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S E Palmer

9

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J Seidel

10

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R A Gatti

11

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31 July 2017

R Varon

12

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M A Oettinger

13

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H Neitzel

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P A Jeggo

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31 July 2017

publication date

1 December 2001

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31 July 2017

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31 July 2017

volume

8

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issue

6

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31 July 2017

page(s)

1175-1185

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Comparative human cellular radiosensitivity: I. The effect of SV40 transformation and immortalisation on the gamma-irradiation survival of skin derived fibroblasts from normal individuals and from ataxia-telangiectasia patients and heterozygotes

31 July 2017

cites work

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7 January 2021

Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents

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7 January 2021

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

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7 January 2021

Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?

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7 January 2021

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

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7 January 2021

Fine localization of the Nijmegen breakage syndrome gene to 8q21: evidence for a common founder haplotype

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7 January 2021

Retroviral expression of the NBS1 gene in cultured Nijmegen breakage syndrome cells restores normal radiation sensitivity and nuclear focus formation

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7 January 2021

Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV

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7 January 2021

Xrcc2 is required for genetic stability, embryonic neurogenesis and viability in mice

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7 January 2021

Distinct functional domains of nibrin mediate Mre11 binding, focus formation, and nuclear localization

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7 January 2021

Hypersensitivity of ataxia telangiectasia fibroblasts to ionizing radiation is associated with a repair deficiency of DNA double-strand breaks

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7 January 2021

Identification of single nucleotide polymorphisms in human DNA repair genes

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7 January 2021

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

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7 January 2021

Mechanistic constraints on diversity in human V(D)J recombination

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7 January 2021

V(D)J recombination activity in human hematopoietic cells: correlation with developmental stage and genome stability.

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7 January 2021

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

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7 January 2021

DNA ligase IV is essential for V(D)J recombination and DNA double-strand break repair in human precursor lymphocytes

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7 January 2021

DNA ligase IV binds to XRCC4 via a motif located between rather than within its BRCT domains

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7 January 2021

Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1.

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7 January 2021

Splitting the ATM: distinct repair and checkpoint defects in ataxia–telangiectasia

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7 January 2021

ATM phosphorylates p95/nbs1 in an S-phase checkpoint pathway

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7 January 2021

Novel functional requirements for non-homologous DNA end joining in Schizosaccharomyces pombe.

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7 January 2021

In situ visualization of DNA double-strand break repair in human fibroblasts

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7 January 2021

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

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7 January 2021

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

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7 January 2021

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

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7 January 2021

Dynamic Changes of BRCA1 Subnuclear Location and Phosphorylation State Are Initiated by DNA Damage

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7 January 2021

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

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7 January 2021

Impairment of V(D)J recombination in double-strand break repair mutants

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7 January 2021

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

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7 January 2021

V(D)J rearrangement in Nijmegen breakage syndrome

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7 January 2021

10.1016/S1097-2765(01)00408-7

Identifiers

DOI

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31 July 2017

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