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Article

Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations.

PloS one - 1 Jan 2009

Schwartz Michal, Oren Yifat S, Bester Assaf C, Rahat Ayelet, Sfez Ruthy, Yitzchaik Shlomo, de Villartay Jean-Pierre, Kerem Batsheva

Abstract excerpt

Non-Homologous End Joining (NHEJ) is one of the two major pathways of DNA Double Strand Breaks (DSBs) repair. Mutations in human NHEJ genes can lead to immunodeficiency due to its role in V(D)J recombination in the immune system. In addition, most patients carrying mutations in NHEJ genes display developmental anomalies which are likely the result of a general defect in repair of endogenously induced DSBs such as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19223975
DOI: 10.1371/journal.pone.0004516
PMCID: PMC2637976

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations.PMID 19223975Read ↗

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