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Article

Dyskerin and cancer: more than telomerase. The defect in mRNA translation helps in explaining how a proliferative defect leads to cancer.

The Journal of pathology - 1 Dec 2010

Montanaro Lorenzo

Abstract excerpt

Point mutations in the DKC1 gene that encodes dyskerin cause the rare inherited syndrome called X-linked dyskeratosis congenita, characterized by a failure of proliferating tissues and increased susceptibility to cancer. Dyskerin is a nucleolar protein with different functions, all fundamental to basic cellular events such as protein expression, growth, and proliferation. The two best-characterized dyskerin...

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Source

Identifiers

PMID: 20925138
DOI: 10.1002/path.2777

Genes

DKC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dyskerin and cancer: more than telomerase. The defect in mRNA translation helps in explaining how a proliferative defect leads to cancer.PMID 20925138Read ↗

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.Semantic proximity Read ↗

Dyskerin: an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance.Semantic proximity Read ↗

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

Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.Semantic proximity Read ↗

Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification.Semantic proximity Read ↗

DKC1 Overexpression Induces a More Aggressive Cellular Behavior and Increases Intrinsic Ribosomal Activity in Immortalized Mammary Gland CellsSemantic proximity Read ↗

Dyskerin expression influences the level of ribosomal RNA pseudo‐uridylation and telomerase RNA component in human breast cancerSemantic proximity Read ↗

DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.Semantic proximity Read ↗

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.Semantic proximity Read ↗

Human dyskerin: beyond telomeresSemantic proximity Read ↗

Loss of function of the tumor suppressor DKC1 perturbs p27 translation control and contributes to pituitary tumorigenesis.Semantic proximity Read ↗

Dyskeratosis congenita as a disorder of telomere maintenance.Semantic proximity Read ↗

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