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Article

Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells.

PloS one - 1 Jan 2016

Pereboeva Larisa, Hubbard Meredith, Goldman Frederick D, Westin Erik R

Abstract excerpt

Dyskeratosis Congenita (DC) is an inherited multisystem premature aging disorder with characteristic skin and mucosal findings as well as a predisposition to cancer and bone marrow failure. DC arises due to gene mutations associated with the telomerase complex or telomere maintenance, resulting in critically shortened telomeres. The pathogenesis of DC, as well as several congenital bone marrow failure (BMF)...

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Source

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Identifiers

PMID: 26859482
DOI: 10.1371/journal.pone.0148793
PMCID: PMC4747510

Genes

TINF2
BMF
TERT

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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