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

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.

Human mutation - 1 Mar 2020

Fiévet Alice, Bellanger Dorine, Zahed Laila, Burglen Lydie, Derrien Anne-Céline, Dubois d'Enghien Catherine, Lespinasse James, Parfait Béatrice, Pedespan Jean-Michel, Rieunier Guillaume, Stoppa-Lyonnet Dominique, Stern Marc-Henri

Abstract excerpt

Nijmegen breakage syndrome caused by biallelic pathogenic variants of the DNA-damage response gene NBN, is characterized by severe microcephaly, cancer proneness, infertility, and karyotype abnormalities. We previously reported NBN variants in siblings suffering from fertility defects. Here, we identify a new founder NBN variant (c.442A>G, p.(Thr148Ala)) in Lebanese patients associated with isolated infertility....

Read the complete abstract on PubMed

Topics

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

Share to Ataxia Telangiectasia Mutated Proteins
Share to Cell Cycle Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair

Share to Flow Cytometry

Share to Gene Expression Regulation

Share to Genetic Association Studies

Share to Infertility

Share to Nuclear Proteins

Source

Identifiers

PMID: 31729086
DOI: 10.1002/humu.23955

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

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.PMID 31729086Read ↗

Attenuated Form of Nijmegen Breakage Syndrome: Case Report of the Oldest Patient.Semantic proximity Read ↗

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.Semantic proximity Read ↗

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

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

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 ↗

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

Clinical presentation and mutation identification in the NBS1 gene in a boy with Nijmegen breakage syndrome.Semantic proximity Read ↗

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

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.Semantic proximity Read ↗

Nijmegen breakage syndrome.Semantic proximity Read ↗

Nijmegen breakage syndrome (NBS)Semantic proximity Read ↗

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