Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

New mutations and protein variants of NBS1 are identified in cancer cell lines.

Genes, chromosomes & cancer - 1 Feb 2003

Tessitore Alessandra, Biordi Leda, Flati Vincenzo, Toniato Elena, Marchetti Paolo, Ricevuto Enrico, Ficorella Corrado, Scotto Luigi, Giannini Giuseppe, Frati Luigi, Masciocchi Carlo, Tombolini Vincenzo, Gulino Alberto, Martinotti Stefano

Abstract excerpt

Alterations of the NBS1 gene are responsible for Nijmegen breakage syndrome (NBS), which is characterized by chromosomal instability, radiosensitivity, and cancer predisposition. NBS1 protein (Nibrin) is part of a molecular complex (NBS1- MRE11A-RAD50) that is functionally involved in DNA double-...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenocarcinoma
Share to Alternative Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Cycle Proteins

Share to Colonic Neoplasms

Share to DNA Repair

Share to Ovarian Neoplasms

Share to Protein Isoforms

Share to Tumor Cells, Cultured

Source

Identifiers

PMID: 12508248
DOI: 10.1002/gcc.10145

Genes

RAD50

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12508248-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New mutations and protein variants of NBS1 are identified in cancer cell lines.PMID 12508248Read ↗

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

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 ↗

Nijmegen breakage syndrome.Semantic proximity Read ↗

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

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

Nibrin, a Novel DNA Double-Strand Break Repair Protein, Is Mutated in Nijmegen Breakage SyndromeSemantic proximity Read ↗

Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.Semantic proximity Read ↗

Mutation inactivation of Nijmegen breakage syndrome gene (NBS1) in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.Semantic proximity Read ↗

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

Polymorphisms and haplotypes of the NBS1 gene in childhood acute leukaemia.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.