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Article

H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.

Cell reports - 30 May 2013

Bellodi Cristian, McMahon Mary, Contreras Adrian, Juliano Dayle, Kopmar Noam, Nakamura Tomoka, Maltby David, Burlingame Alma, Savage Sharon A, Shimamura Akiko, Ruggero Davide

Abstract excerpt

Noncoding RNAs control critical cellular processes, although their contribution to disease remains largely unexplored. Dyskerin associates with hundreds of H/ACA small RNAs to generate a multitude of functionally distinct ribonucleoproteins (RNPs). The DKC1 gene, encoding dyskerin, is mutated in the multisystem disorder X-linked dyskeratosis congenita (X-DC). A central question is whether DKC1 mutations affect...

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Identifiers

PMID: 23707062
DOI: 10.1016/j.celrep.2013.04.030
PMCID: PMC3857015

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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