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Article

Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.

Nucleic acids research - 9 Sept 2022

Nagpal Neha, Tai Albert K, Nandakumar Jayakrishnan, Agarwal Suneet

Abstract excerpt

Mutations in DKC1 (encoding dyskerin) cause telomere diseases including dyskeratosis congenita (DC) by decreasing steady-state levels of TERC, the non-coding RNA component of telomerase. How DKC1 mutations variably impact numerous other snoRNAs remains unclear, which is a barrier to understanding disease mechanisms in DC beyond impaired telomere maintenance. Here, using DC patient iPSCs, we show that mutations in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36018809
DOI: 10.1093/nar/gkac706
PMCID: PMC9458449

Genes

DKC1
PARN

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.

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Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.PMID 36018809Read ↗

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Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita.Semantic proximity Read ↗

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