(Q34108148)

31 July 2017

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

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31 July 2017

M O'Driscoll

1

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Patrick Concannon

object named as

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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31 July 2017

Y Dai

4

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31 July 2017

M Stumm

5

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31 July 2017

B Kysela

6

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31 July 2017

B Hirsch

7

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31 July 2017

A Gennery

8

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31 July 2017

S E Palmer

9

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31 July 2017

J Seidel

10

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31 July 2017

R A Gatti

11

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31 July 2017

R Varon

12

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31 July 2017

M A Oettinger

13

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31 July 2017

H Neitzel

14

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31 July 2017

P A Jeggo

15

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31 July 2017

1 December 2001

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31 July 2017

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31 July 2017

8

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31 July 2017

1175-1185

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31 July 2017

6

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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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

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%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

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%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

Identification of single nucleotide polymorphisms in human DNA repair genes

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

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%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

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%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

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%2FS1097-2765%2801%2900408-7

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%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

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%2FS1097-2765%2801%2900408-7

7 January 2021

V(D)J rearrangement in Nijmegen breakage syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1097-2765%2801%2900408-7

7 January 2021

10.1016/S1097-2765(01)00408-7

Identifiers

DOI

1 reference

31 July 2017

1 reference