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Article

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Proceedings of the National Academy of Sciences of the United States of America - 10 Jun 2008

Vulliamy Tom, Beswick Richard, Kirwan Michael, Marrone Anna, Digweed Martin, Walne Amanda, Dokal Inderjeet

Abstract excerpt

Dyskeratosis congenita is a premature aging syndrome characterized by muco-cutaneous features and a range of other abnormalities, including early greying, dental loss, osteoporosis, and malignancy. Dyskeratosis congenita cells age prematurely and have very short telomeres. Patients have mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ribonucleoproteins, Small Nuclear

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Source

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Identifiers

PMID: 18523010
DOI: 10.1073/pnas.0800042105
PMCID: PMC2430361

Genes

NHP2
NOP10
GAR1
TERT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18523010-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.PMID 18523010Read ↗

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.Semantic proximity Read ↗

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.Semantic proximity Read ↗

Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activitySemantic proximity Read ↗

Human diseases of telomerase dysfunction: insights into tissue aging.Semantic proximity Read ↗

Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance.Semantic proximity Read ↗

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Telomerase RNA structure and function: implications for dyskeratosis congenita.Semantic proximity Read ↗

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Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.Semantic proximity Read ↗

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The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.Semantic proximity Read ↗

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