Molecular nature of radiation injury and DNA repair disorders associated with radiosensitivity. (Q37986682)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22351161%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

Molecular nature of radiation injury and DNA repair disorders associated with radiosensitivity (English)

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23 January 2020

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18 February 2012

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22351161%20AND%20SRC:MED&resulttype=core&format=json

International Journal of Hematology

23 January 2020

published in

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23 January 2020

volume

95

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23 January 2020

issue

3

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23 January 2020

page(s)

239-245

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Reactions of oxyl radicals with DNA.

23 January 2020

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Instability and decay of the primary structure of DNA

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Solution conformation of the major adduct between the carcinogen (+)-anti-benzo[a]pyrene diol epoxide and DNA

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Inverse radiation dose-rate effects on somatic and germ-line mutations and DNA damage rates

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Chromosome instability and X-ray hypersensitivity in a microcephalic and growth-retarded child

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A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

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Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

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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

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Positional cloning of the gene for Nijmegen breakage syndrome

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

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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.

21 January 2018

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A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans

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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Further delineation of the Nijmegen breakage syndrome

21 January 2018

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Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

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Immortalization and characterization of Nijmegen Breakage syndrome fibroblasts

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

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Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage

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Mre11-Rad50-Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin template.

21 January 2018

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ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

21 January 2018

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MDC1 is a mediator of the mammalian DNA damage checkpoint

21 January 2018

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MDC1 is coupled to activated CHK2 in mammalian DNA damage response pathways

21 January 2018

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Mre11 protein complex prevents double-strand break accumulation during chromosomal DNA replication.

21 January 2018

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ATM phosphorylates histone H2AX in response to DNA double-strand breaks

21 January 2018

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MDC1 is required for the intra-S-phase DNA damage checkpoint

21 January 2018

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Activation of the ATM kinase by ionizing radiation and phosphorylation of p53

21 January 2018

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Functional interaction of H2AX, NBS1, and p53 in ATM-dependent DNA damage responses and tumor suppression

21 January 2018

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DNA-dependent protein kinase catalytic subunit: a relative of phosphatidylinositol 3-kinase and the ataxia telangiectasia gene product

21 January 2018

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A structural model for regulation of NHEJ by DNA-PKcs autophosphorylation

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Functional and biochemical dissection of the structure-specific nuclease ARTEMIS

21 January 2018

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The Artemis:DNA-PKcs endonuclease cleaves DNA loops, flaps, and gaps

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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Immunoglobulin metabolism in ataxia telangiectasia

21 January 2018

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Nijmegen Breakage syndrome: a progress report

21 January 2018

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Decreased immunoglobulin class switching in Nijmegen Breakage syndrome due to the DNA repair defect.

21 January 2018

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Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre.

21 January 2018

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ATM is not required in somatic hypermutation of VH, but is involved in the introduction of mutations in the switch mu region

21 January 2018

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ATM is required for efficient recombination between immunoglobulin switch regions

21 January 2018

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Immunoglobulin class switch recombination is impaired in Atm-deficient mice

21 January 2018

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A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

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Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation.

21 January 2018

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A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

21 January 2018

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A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.

21 January 2018

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Genetic pathway to recurrent chromosome translocations in murine lymphoma involves V(D)J recombinase

21 January 2018

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Irradiation promotes V(D)J joining and RAG-dependent neoplastic transformation in SCID T-cell precursors

21 January 2018

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Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity

21 January 2018

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A kinase-negative mutation of DNA-PK(CS) in equine SCID results in defective coding and signal joint formation

21 January 2018

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12 December 2020

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

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12 December 2020

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12 December 2020

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A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.

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12 December 2020

10.1007/S12185-012-1008-Y

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22351161%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

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