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Article

Atrx deficiency induces telomere dysfunction, endocrine defects, and reduced life span.

The Journal of clinical investigation - 1 May 2013

Watson L Ashley, Solomon Lauren A, Li Jennifer Ruizhe, Jiang Yan, Edwards Matthew, Shin-ya Kazuo, Beier Frank, Bérubé Nathalie G

Abstract excerpt

Human ATRX mutations are associated with cognitive deficits, developmental abnormalities, and cancer. We show that the Atrx-null embryonic mouse brain accumulates replicative damage at telomeres and pericentromeric heterochromatin, which is exacerbated by loss of p53 and linked to ATM activation. ATRX-deficient neuroprogenitors exhibited higher incidence of telomere fusions and increased sensitivity to...

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Identifiers

PMID: 23563309
DOI: 10.1172/JCI65634
PMCID: PMC3635723

Genes

ATRX
ATM

Provenance

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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