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Article

NBS1 and its functional role in the DNA damage response.

DNA repair - 1 Jan 2000

Kobayashi Junya, Antoccia Antonio, Tauchi Hiroshi, Matsuura Shinya, Komatsu Kenshi

Abstract excerpt

Nijmegen breakage syndrome is a recessive genetic disorder, characterized by elevated sensitivity to ionizing radiation, chromosome instability and high frequency of malignancies. Since cellular features partly overlap with those of ataxia-telangiectasia (A-T), NBS was long considered an A-T clinical variant. NBS1, the product of the gene underlying the disease, contains three functional regions: the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15279770
DOI: 10.1016/j.dnarep.2004.03.023

Genes

ATM
ATR
BRCA1
MRE11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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NBS1 and its functional role in the DNA damage response.PMID 15279770Read ↗

The NBS1-ATM Connection RevisitedSemantic proximity Read ↗

Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models.Semantic proximity Read ↗

Homologous recombination repair is regulated by domains at the N- and C-terminus of NBS1 and is dissociated with ATM functionsSemantic proximity Read ↗

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Distinct domains in Nbs1 regulate irradiation-induced checkpoints and apoptosisSemantic proximity Read ↗

A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.Semantic proximity Read ↗

The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients.Semantic proximity Read ↗

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Early events in the mammalian response to DNA double-strand breaksSemantic proximity Read ↗

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