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Article

A murine model of Nijmegen breakage syndrome.

Current biology : CB - 16 Apr 2002

Williams Bret R, Mirzoeva Olga K, Morgan William F, Lin Junyu, Dunnick Wesley, Petrini John H J

Abstract excerpt

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, immunodeficiency, and predisposition to hematopoietic malignancy. The clinical and cellular phenotypes of NBS substantially overlap those of ataxia-telangiectasia (A-T). NBS is caused by mutation of the NBS1 gene, which encodes a member of the Mre11 complex, a trimeric protein complex also containing Mre11 and...

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Source

Identifiers

PMID: 11967151
DOI: 10.1016/s0960-9822(02)00763-7

Genes

ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A murine model of Nijmegen breakage syndrome.PMID 11967151Read ↗

The carboxy terminus of NBS1 is required for induction of apoptosis by the MRE11 complex.Semantic proximity Read ↗

The NBS1-ATM Connection RevisitedSemantic proximity Read ↗

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

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

Distinct functions of Nijmegen breakage syndrome in ataxia telangiectasia mutated-dependent responses to DNA damage.Semantic proximity Read ↗

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

NBS1 and its functional role in the DNA damage response.Semantic proximity Read ↗

Nijmegen Breakage Syndrome (NBS) is a Telomeropathy: Analysis of Telomere Length in NBS Homo- and Heterozygotes and Humanized Nbs MiceSemantic 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 ↗

V(D)J rearrangement in Nijmegen breakage syndrome.Semantic proximity Read ↗

Double strand break metabolism and cancer susceptibility: lessons from the mre11 complex.Semantic proximity Read ↗

NBS1 Knockdown by Small Interfering RNA Increases Ionizing Radiation Mutagenesis and Telomere Association in Human CellsSemantic proximity Read ↗

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