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Article

Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita.

Blood - 11 Aug 2022

Choo Seunga, Lorbeer Franziska K, Regalado Samuel G, Short Sarah B, Wu Shannon, Rieser Gabrielle, Bertuch Alison A, Hockemeyer Dirk

Abstract excerpt

Mutations in the TINF2 gene, encoding the shelterin protein TIN2, cause telomere shortening and the inherited bone marrow (BM) failure syndrome dyskeratosis congenita (DC). A lack of suitable model systems limits the mechanistic understanding of telomere shortening in the stem cells and thus hinders the development of treatment options for BM failure. Here, we endogenously introduced TIN2-DC mutations in human...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35421215
DOI: 10.1182/blood.2021013750
PMCID: PMC9373014

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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