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Article

Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.

Genes & development - 1 Jan 2011

Zhong Franklin, Savage Sharon A, Shkreli Marina, Giri Neelam, Jessop Lea, Myers Timothy, Chen Renee, Alter Blanche P, Artandi Steven E

Abstract excerpt

Dyskeratosis congenita (DC) is a genetic disorder of defective tissue maintenance and cancer predisposition caused by short telomeres and impaired stem cell function. Telomerase mutations are thought to precipitate DC by reducing either the catalytic activity or the overall levels of the telomerase complex. However, the underlying genetic mutations and the mechanisms of telomere shortening remain unknown for as...

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Identifiers

PMID: 21205863
DOI: 10.1101/gad.2006411
PMCID: PMC3012932

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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.

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