ReviewCancer genetics2011
The genetics of dyskeratosis congenita.
Review in Cancer genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers, 2 of them syntheses 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
74 citing papers in PubMed, 2 syntheses or guidelines pooled it, 156 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
- Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.Bone marrow transplantation · 2015Guideline
- A Reduced-Intensity Conditioning Regimen for Patients with Dyskeratosis Congenita Undergoing Hematopoietic Stem Cell Transplantation.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2016Trial
- Differential Expression of Non-Shelterin Genes Associated with High Telomerase Levels and Telomere Shortening in Plasma Cell Disorders.PloS one · 2015Trial
- DKC1 promotes colorectal cancer progression and therapy resistance by dysregulating sphingolipid biosynthesis.Nature communications · 2026Article
- Late-onset dyskeratosis congenita due to a TERC (n.269G > C) variant-first reported case from Indonesia: a case report.Journal of medical case reports · 2026Article
- The Converging Roles of Nucleases and Helicases in Genome Maintenance and the Aging Process.Life (Basel, Switzerland) · 2025Review
- Review
- Targeting DKC1/NF-κB axis suppresses tumorigenesis and enhances 5-FU sensitivity in gastric cancer.Cancer cell international · 2025Article
- Telomeres: an organized string linking plants and mammals.Biology direct · 2024Review
- Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.Hepatology communications · 2024Article
- Fyn-mediated phosphorylation of Menin disrupts telomere maintenance in stem cells.bioRxiv : the preprint server for biology · 2024Article
- Telomere length is an epigenetic trait - Implications for the use of telomerase-deficient organisms to model human disease.Disease models & mechanisms · 2024Article
- Telomerase-Mediated Anti-Ageing Interventions.Sub-cellular biochemistry · 2024Review
- CRISPR screen identifies CEBPB as contributor to dyskeratosis congenita fibroblast senescence via augmented inflammatory gene response.G3 (Bethesda, Md.) · 2023Article
- Hematopoietic stem cell transplantation of aplastic anemia by relative with mutations and normal telomere length: A case report.World journal of clinical cases · 2023Article
- Telomerase RNA-based aptamers restore defective myelopoiesis in congenital neutropenic syndromes.Nature communications · 2023Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Overview of familial syndromes with increased skin malignancies.Archives of dermatological research · 2023Review
- Comprehensive identification of diverse ribosomal RNA modifications by targeted nanopore direct RNA sequencing and JACUSA2.RNA biology · 2023Article
14 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
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome associated with characteristic mucocutaneous features and a variable series of other somatic abnormalities. The disease is heterogeneous at the genetic and clinical levels. Determination of the genetic basis of DC has established that the disease is caused by a number of genes, all of which encode products involved in telomere maintenance, either as part of telomerase or as part of the shelterin complex that caps and protects telomeres. There is overlap at the genetic and clinical levels with other, more common conditions, including aplastic anemia (AA), pulmonary fibrosis (PF), and liver cirrhosis. Although part of the spectrum of disorders known to be associated with DC, it has emerged that mutations in telomere maintenance genes can lead to the development of AA and PF in the absence of other DC features. Here we discuss the genetics of DC and its relationship to disease presentation.
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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.