Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms (Q34343834)

1 August 2017

title

Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms (English)

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1 August 2017

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DNA ligase IV deficiency

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Pierre-Marie Girard

1

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Boris Kysela

2

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Christine J Härer

3

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Aidan J Doherty

4

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Penny A Jeggo

5

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publication date

27 August 2004

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published in

Human Molecular Genetics

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volume

13

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issue

20

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page(s)

2369-2376

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Immunological disorders and DNA repair

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cites work

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Chromosomal stability and the DNA double-stranded break connection

21 January 2018

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V(D)J recombination: RAG proteins, repair factors, and regulation

21 January 2018

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

21 January 2018

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

21 January 2018

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Identification of Saccharomyces cerevisiae DNA ligase IV: involvement in DNA double-strand break repair

21 January 2018

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

21 January 2018

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Crystal structure of an Xrcc4-DNA ligase IV complex

21 January 2018

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DNA ligase IV from HeLa cell nuclei

21 January 2018

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DNA ligase IV deficiency in mice leads to defective neurogenesis and embryonic lethality via the p53 pathway

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination

21 January 2018

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

21 January 2018

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Requirement for an interaction of XRCC4 with DNA ligase IV for wild-type V(D)J recombination and DNA double-strand break repair in vivo.

21 January 2018

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Ku stimulation of DNA ligase IV-dependent ligation requires inward movement along the DNA molecule

21 January 2018

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DNA binding of Xrcc4 protein is associated with V(D)J recombination but not with stimulation of DNA ligase IV activity

21 January 2018

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Structural and mechanistic conservation in DNA ligases

21 January 2018

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Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDH274

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1 August 2017

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