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Article

Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation.

IUBMB life - 1 Oct 2012

Mendez Gina, Cilli Domenica, Berardinelli Francesco, Viganotti Mara, Ascenzi Paolo, Tanzarella Caterina, Antoccia Antonio, di Masi Alessandra

Abstract excerpt

The Nijmegen breakage syndrome (NBS) is a genetic disorder caused by mutations in NBN gene and characterized by chromosomal instability and hypersensitivity to ionizing radiations (IR). The N-terminus of nibrin (NBN) contains a tandem breast cancer 1 (BRCA1) carboxy-terminal (BRCT) domain that represents one of the major mediators of phosphorylation-dependent protein-protein interactions in processes related to...

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Source

Identifiers

PMID: 22941933
DOI: 10.1002/iub.1077

Genes

NBN
MRE11
ATM
BRCA1
RAD50

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cleavage of the BRCT tandem domains of nibrin by the 657del5 mutation affects the DNA damage response less than the Arg215Trp mutation.PMID 22941933Read ↗

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 ↗

Identification of the interactors of human nibrin (NBN) and of its 26 kDa and 70 kDa fragments arising from the NBN 657del5 founder mutation.Semantic proximity Read ↗

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

Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks.Semantic proximity Read ↗

Nibrin forkhead-associated domain and breast cancer C-terminal domain are both required for nuclear focus formation and phosphorylation.Semantic proximity Read ↗

ATM-dependent phosphorylation of nibrin in response to radiation exposure.Semantic proximity Read ↗

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

Cancer predisposing mutations in BRCT domains.Semantic proximity Read ↗

A divalent FHA/BRCT-binding mechanism couples the MRE11-RAD50-NBS1 complex to damaged chromatin.Semantic proximity Read ↗

Functional deficiency of NBN, the Nijmegen breakage syndrome protein, in a p.R215W mutant breast cancer cell line.Semantic proximity Read ↗

Nuclear export of NBN is required for normal cellular responses to radiation.Semantic proximity Read ↗

Rad50 depletion impacts upon ATR-dependent DNA damage responses.Semantic proximity Read ↗

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