ArticleCell reports2013
H/ACA small RNA dysfunctions in disease reveal key roles for noncoding RNA modifications in hematopoietic stem cell differentiation.
Article in Cell reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers, 1 of them a synthesis that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
89 citing papers in PubMed, 1 synthesis or guideline pooled it, 150 citations in OpenAlex.
- What is the Role of SNORA42 in Carcinogenesis? A Systematic Review.Asian Pacific journal of cancer prevention : APJCP · 2023Pooled it
- The potential of gene therapy to rescue telomeric and extratelomeric defects in X-linked dyskeratosis congenita.Molecular therapy. Advances · 2026Article
- RNA modifications as determinants of cancer cell death: from epitranscriptomic mechanisms to therapeutic targeting.Functional & integrative genomics · 2026Review
- DKC1: a robust prognostic factor and potential therapeutic target in multiple myeloma.Journal of translational medicine · 2026Article
- Raw signal segmentation for estimating RNA modification from Nanopore direct RNA sequencing data.eLife · 2026Article
- From ribosomopathies to therapeutic targets: ribosomal alterations in pediatric leukemogenesis and tumorigenesis.Frontiers in oncology · 2026Review
- Interprotomer communication and functional asymmetry in H/ACA snoRNPs.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- H/ACA snoRNAs and snoRNPs Dysregulation Links rRNA Modification to Glioblastoma Progression.Research square · 2025Article
- Review
- Pseudouridylation of 7SK by PUS7 regulates Pol II transcription elongation.Nature communications · 2025Article
- Intracellular Mis-Localization of Modified RNA Molecules and Non-Coding RNAs: Facts from Hematologic Malignancies.Current issues in molecular biology · 2025Review
- Ribosomes: from conserved origin to functional/medical mobility and heterogeneity.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- The zebrafish (NAR genomics and bioinformatics · 2025Article
- De novo basecalling of RNA modifications at single molecule and nucleotide resolution.Genome biology · 2025Article
- SNORD113-114 cluster maintains haematopoietic stem cell self-renewal via orchestrating the translation machinery.Nature cell biology · 2025Article
- Deciphering the pseudouridine nucleobase modification in human diseases: From molecular mechanisms to clinical perspectives.Clinical and translational medicine · 2025Review
- NewmedRxiv : the preprint server for health sciences · 2024Article
- Pseudouridine Detection and Quantification Using Bisulfite Incorporation Hindered Ligation.ACS chemical biology · 2024Article
- SnoRNAs: Exploring Their Implication in Human Diseases.International journal of molecular sciences · 2024Review
- Structural and mechanistic insights into the function of Leishmania ribosome lacking a single pseudouridine modification.Cell reports · 2024Article
29 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
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 the stability of H/ACA RNPs, including those modifying ribosomal RNA (rRNA). We carried out comprehensive profiling of dyskerin-associated H/ACA RNPs, revealing remarkable heterogeneity in the expression and function of subsets of H/ACA small RNAs in X-DC patient cells. Using a mass spectrometry approach, we uncovered single-nucleotide perturbations in dyskerin-guided rRNA modifications, providing functional readouts of small RNA dysfunction in X-DC. In addition, we identified that, strikingly, the catalytic activity of dyskerin is required for accurate hematopoietic stem cell differentiation. Altogether, these findings reveal that small noncoding RNA dysfunctions may contribute to the pleiotropic manifestation of human disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.