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Article

An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele.

Nature genetics - 1 Apr 2001

Maser R S, Zinkel R, Petrini J H

Abstract excerpt

Nijmegen breakage syndrome (NBS) is a rare chromosomal-instability syndrome associated with cancer predisposition, radiosensitivity and radioresistant DNA synthesis-S phase checkpoint deficiency, which results in the failure to suppress DNA replication origins following DNA damage. Approximately...

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Source

Identifiers

PMID: 11279524
DOI: 10.1038/86920

Genes

MRE11
RAD50

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11279524-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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An alternative mode of translation permits production of a variant NBS1 protein from the common Nijmegen breakage syndrome allele.PMID 11279524Read ↗

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Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome.Semantic proximity Read ↗

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.Semantic proximity Read ↗

Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.Semantic proximity Read ↗

657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.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 ↗

Dual functions of Nbs1 in the repair of DNA breaks and proliferation ensure proper V(D)J recombination and T-cell development.Semantic proximity Read ↗

Nijmegen breakage syndrome: the clearance pathway for mutant nibrin protein is allele specific.Semantic proximity Read ↗

Expression of full-length NBS1 protein restores normal radiation responses in cells from Nijmegen breakage syndrome patients.Semantic proximity Read ↗

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