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Article

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.

Journal of medical genetics - 1 May 2011

Parry Erin M, Alder Jonathan K, Lee Stella S, Phillips John A, Loyd James E, Duggal Priya, Armanios Mary

Abstract excerpt

Dyskeratosis congenita (DC) is a premature ageing syndrome characterised by short telomeres. An X-linked form of DC is caused by mutations in DKC1 which encodes dyskerin, a telomerase component that is essential for telomerase RNA stability. However, mutations in DKC1 are identifiable in only half of X-linked DC families. A four generation family with pulmonary fibrosis and features of DC was identified. Affected...

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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: 21415081
DOI: 10.1136/jmg.2010.085100
PMCID: PMC3088476

Genes

DKC1

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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