Discover Community Create You

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

Human RAD50 deficiency: Confirmation of a distinctive phenotype.

American journal of medical genetics. Part A - 1 Jun 2020

Ragamin Aviël, Yigit Gökhan, Bousset Kristine, Beleggia Filippo, Verheijen Frans W, de Wit Marie-Claire Y, Strom Tim M, Dörk Thilo, Wollnik Bernd, Mancini Grazia M S

Abstract excerpt

DNA double-strand breaks (DSBs) are highly toxic DNA lesions that can lead to chromosomal instability, loss of genes and cancer. The MRE11/RAD50/NBN (MRN) complex is keystone involved in signaling processes inducing the repair of DSB by, for example, in activating pathways leading to homologous recombination repair and nonhomologous end joining. Additionally, the MRN complex also plays an important role in the...

Read the complete abstract on PubMed

Topics

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

Share to Acid Anhydride Hydrolases
Share to Ataxia Telangiectasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Cycle Proteins

Share to DNA Breaks, Double-Stranded

Share to Growth Disorders

Share to Microcephaly

Share to MRE11 Homologue Protein

Share to Nuclear Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 32212377
DOI: 10.1002/ajmg.a.61570
PMCID: PMC7318339

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human RAD50 deficiency: Confirmation of a distinctive phenotype.PMID 32212377Read ↗

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

Expanding the mutational spectrum of RAD50: a case report of Nijmegen breakage syndrome-like disorder in a Chinese child.Semantic proximity Read ↗

Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN ComplexSemantic proximity Read ↗

A Survey of Reported Disease-Related Mutations in the MRE11-RAD50-NBS1 Complex.Semantic proximity Read ↗

Disruption of mRad50 causes embryonic stem cell lethality, abnormal embryonic development, and sensitivity to ionizing radiation.Semantic proximity Read ↗

A Disease-Causing Single Amino Acid Deletion in the Coiled-Coil Domain of RAD50 Impairs MRE11 Complex Functions in Yeast and HumansSemantic proximity Read ↗

Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.Semantic proximity Read ↗

DNA Repair Mechanisms, Protein Interactions and Therapeutic Targeting of the MRN ComplexSemantic proximity Read ↗

Mre11–Rad50–Nbs1 is a keystone complex connecting DNA repair machinery, double-strand break signaling, and the chromatin templateThis paper is one of a selection of papers published in this Special Issue, entitled 28th International West Coast Chromatin and Chromosome Conference, and has undergone the Journal's usual peer review process.Semantic proximity Read ↗

The importance of making ends meet: mutations in genes and altered expression of proteins of the MRN complex and cancer.Semantic proximity Read ↗

MRN Complex and Cancer Risk: Old Bottles, New Wine.Semantic proximity Read ↗

Mutation Spectra of the MRN (MRE11, RAD50, NBS1/NBN) Break Sensor in Cancer CellsSemantic proximity Read ↗

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