ArticleJournal of medical genetics2011
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.
Article in Journal of medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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
39 citing papers in PubMed, 67 citations in OpenAlex.
- Revealing RELL1 signaling relying on the phosphoregulatory network analysis.Frontiers in bioinformatics · 2026Article
- Sexual dimorphism in zebrafish liver proteins and implications for hepatic regeneration and diseases.Scientific reports · 2025Article
- Telomere function and regulation from mouse models to human ageing and disease.Nature reviews. Molecular cell biology · 2025Review
- Viewpoint: Pre- and post-lung transplant considerations for patients with ultra-short telomere length.The European respiratory journal · 2025Article
- Progressive lung fibrosis: reprogramming a genetically vulnerable bronchoalveolar epithelium.The Journal of clinical investigation · 2025Review
- Telomeres: Dysfunction, Maintenance, Aging and Cancer.Aging and disease · 2023Review
- The importance of pseudouridylation: human disorders related to the fifth nucleoside.Biologia futura · 2023Review
- Genomic Fingerprint Associated with Familial Idiopathic Pulmonary Fibrosis: A Review.International journal of medical sciences · 2023Review
- Late Presentation of Dyskeratosis Congenita: Germline Predisposition to Adult-Onset Secondary Acute Myeloid Leukemia.Hematology reports · 2022Article
- Telomere-mediated lung disease.Physiological reviews · 2022Review
- The Role of Telomeres in Human Disease.Annual review of genomics and human genetics · 2022Review
- Generation of dyskeratosis congenita-like hematopoietic stem cells through the stable inhibition of DKC1.Stem cell research & therapy · 2021Article
- Aberrant Dyskerin Expression Is Related to Proliferation and Poor Survival in Endometrial Cancer.Cancers · 2021Article
- Synonymous Mutation in DKC1 Causes Telomerase RNA Insufficiency Manifesting as Familial Pulmonary Fibrosis.Chest · 2020Article
- N-terminal residues of human dyskerin are required for interactions with telomerase RNA that prevent RNA degradation.Nucleic acids research · 2019Article
- Review
- Guide snoRNAs: Drivers or Passengers in Human Disease?Biology · 2018Review
- Short telomere syndromes cause a primary T cell immunodeficiency.The Journal of clinical investigation · 2018Article
- Diagnostic utility of telomere length testing in a hospital-based setting.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.American journal of human genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 4 institutions in 1 country.
Funding
Abstract
Dyskeratosis congenita (DC) is a premature ageing syndrome characterised by short telomeres. An X-linked form of DC is caused by mutations in DKC1 which encodes dyskerin, a telomerase component that is essential for telomerase RNA stability. However, mutations in DKC1 are identifiable in only half of X-linked DC families. A four generation family with pulmonary fibrosis and features of DC was identified. Affected males showed the classic mucocutaneous features of DC and died prematurely from pulmonary fibrosis. Although there were no coding sequence or splicing variants, genome wide linkage analysis of 16 individuals across four generations identified significant linkage at the DKC1 locus, and was accompanied by reduced dyskerin protein levels in affected males. Decreased dyskerin levels were associated with compromised telomerase RNA levels and very short telomeres. These data identify decreased dyskerin levels as a novel mechanism of DC, and indicate that intact dyskerin levels, in the absence of coding mutations, are critical for telomerase RNA stability and for in vivo telomere maintenance.
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What OpenQuestion holds
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.