ReviewInternational journal of hematology2005
Dyskeratosis congenita: a disorder of defective telomere maintenance?
Review in International journal of hematology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- Dyskeratosis Congenita and Squamous Cell Cancer of the Head and Neck: A Case Report and Systematic Review.The Annals of otology, rhinology, and laryngology · 2022Pooled it
- Extensive and persistent tongue ulceration is an early character of dyskeratosis congenita.Orphanet journal of rare diseases · 2025Article
- Article
- Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita.Internal medicine (Tokyo, Japan) · 2021Article
- Genetic Predisposition to Myelodysplastic Syndromes: A Challenge for Adult Hematologists.International journal of molecular sciences · 2021Review
- A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.Medicine · 2018Article
- Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin.FEBS letters · 2013Article
- Dyskeratosis congenita- management and review of complications: a case report.Oman medical journal · 2013Article
- Interstitial lung disease in a patient with dyskeratosis congenita.Tuberculosis and respiratory diseases · 2013Article
- The genetics and clinical manifestations of telomere biology disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2010Review
- Recent progress in dyskeratosis congenita.International journal of hematology · 2010Review
- Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers.ORL; journal for oto-rhino-laryngology and its related specialties · 2010Article
- Dyskeratosis congenita: the first NIH clinical research workshop.Pediatric blood & cancer · 2009Article
- TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.American journal of human genetics · 2008Article
- Article
- Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita.Genes & development · 2006Article
- The biogenesis and regulation of telomerase holoenzymes.Nature reviews. Molecular cell biology · 2006Review
- A Case of Presumed Dyskeratosis Congenita Causing Severe Retinal Vascular Occlusion.Case reports in ophthalmologyArticle
- Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita.Case reports in dermatologyArticle
- The role of telomere biology in bone marrow failure and other disorders.Mechanisms of ageing and developmentReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Dyskeratosis congenita (DC) is a rare multisystem bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. The gene that is mutated in the X-linked form of the disease is DKC1. The DKC1-encoded protein, dyskerin, is a component of small nucleolar ribonucleoprotein particles, which are important in ribosomal RNA processing, and of the telomerase complex. The autosomal dominant form of DC is due to mutations in the gene for the RNA component of telomerase (TERC). Because both dyskerin and TERC are components of the telomerase complex and all patients with DC have short telomeres, the principal pathology of DC appears to relate to telomerase dysfunction, although defects in ribosomal processing via dyskerin's involvement in pseudouridylation cannot be completely ruled out. The gene or genes involved in autosomal recessive DC remain elusive, although genes whose products are required for telomere maintenance remain strong candidates. The study of DC highlights the importance of telomerase in humans and how its deficiency results in multiple abnormalities, including premature aging, bone marrow failure, and cancer.
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Identifiers
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.