ReviewMutation research2012
Dyskeratosis congenita as a disorder of telomere maintenance.
Review in Mutation research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 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
70 citing papers in PubMed, 1 synthesis or guideline pooled it, 140 citations in OpenAlex.
- Sperm telomere length as a novel biomarker of male infertility and embryonic development: A systematic review and meta-analysis.Frontiers in endocrinology · 2022Pooled it
- Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.Blood · 2015Trial
- Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.Human genetics · 2013Trial
- DKC1 promotes colorectal cancer progression and therapy resistance by dysregulating sphingolipid biosynthesis.Nature communications · 2026Article
- Targeting DKC1/NF-κB axis suppresses tumorigenesis and enhances 5-FU sensitivity in gastric cancer.Cancer cell international · 2025Article
- Bilateral, recurrent Cytomegalovirus retinitis in Dyskeratosis congenita healing with extensive dystrophic calcification.International ophthalmology · 2025Article
- Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.Annual review of pathology · 2025Review
- Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.Frontiers in immunology · 2025Review
- Telomeres: an organized string linking plants and mammals.Biology direct · 2024Review
- Linking Gene Fusions to Bone Marrow Failure and Malignant Transformation in Dyskeratosis Congenita.International journal of molecular sciences · 2024Article
- Review
- Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood.Frontiers in pediatrics · 2023Article
- NovelWorld journal of clinical cases · 2022Article
- Shelterin is a dimeric complex with extensive structural heterogeneity.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Ocular findings and genomics of X-linked recessive disorders: A review.Indian journal of ophthalmology · 2022Review
- Liver Transplant for Management of Hepatic Complications of Dyskeratosis Congenita: A Case Report.Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation · 2022Article
- Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.Molecular genetics & genomic medicine · 2022Article
- Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.Genes · 2022Review
- Clonal hematopoiesis and bone marrow failure syndromes.Best practice & research. Clinical haematology · 2021Review
- Dual Inhibition of DKC1 and MEK1/2 Synergistically Restrains the Growth of Colorectal Cancer Cells.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2021Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Since 1998, there have been great advances in our understanding of the pathogenesis of dyskeratosis congenita (DC), a rare inherited bone marrow failure and cancer predisposition syndrome with prominent mucocutaneous abnormalities and features of premature aging. DC is now characterized molecularly by the presence of short age-adjusted telomeres. Mutations in seven genes have been unequivocally associated with DC, each with a role in telomere length maintenance. These observations, combined with knowledge that progressive telomere shortening can impose a proliferative barrier on dividing cells and contribute to chromosome instability, have led to the understanding that extreme telomere shortening drives the clinical features of DC. However, some of the genes implicated in DC encode proteins that are also components of H/ACA-ribonucleoprotein enzymes, which are responsible for the post-translational modification of ribosomal and spliceosomal RNAs, raising the question whether alterations in these activities play a role in the pathogenesis of DC. In addition, recent reports suggest that some cases of DC may not be characterized by short age-adjusted telomeres. This review will highlight our current knowledge of the telomere length defects in DC and the factors involved in its development.
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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.