ReviewBritish journal of haematology2009
Advances in the understanding of dyskeratosis congenita.
Review in British journal of haematology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers.
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
72 citing papers in PubMed, 171 citations in OpenAlex.
- Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.International journal of hematology · 2015Trial
- Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita.Bone marrow transplantation · 2011Trial
- Mathematical modelling of premature haematopoietic ageing in dyskeratosis congenita.Scientific reports · 2026Article
- Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita.Frontiers in genetics · 2026Article
- Review
- Dyskeratosis congenita: a rare case report.Oxford medical case reports · 2024Article
- Infection and telomere length: a systematic review protocol.BMJ open · 2024Article
- Adaptive and Maladaptive Clonal Hematopoiesis in Telomere Biology Disorders.Current hematologic malignancy reports · 2024Review
- 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
- Assessment of Telomerase Reverse Transcriptase Single Nucleotide Polymorphism in Sleep Bruxism.Journal of clinical medicine · 2022Article
- Dyskerin: an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance.RNA (New York, N.Y.) · 2021Review
- Article
- Telomere Dysfunction Activates p53 and Represses HNF4α Expression Leading to Impaired Human Hepatocyte Development and Function.Hepatology (Baltimore, Md.) · 2020Article
- Chromosomal Breakage in Fanconi Anemia and Consanguineous Marriages: A Social Dilemma for Developing Countries.Cureus · 2020Article
- CD8Journal of clinical laboratory analysis · 2020Article
- PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation.Clinical epigenetics · 2020Article
- Chemical inhibition of PAPD5/7 rescues telomerase function and hematopoiesis in dyskeratosis congenita.Blood advances · 2020Article
- Fatal Acute Exacerbation of Familial Interstitial Pneumonia Complicated with Dyskeratosis Congenita after Influenza Virus B Infection.Internal medicine (Tokyo, Japan) · 2019Article
- Hereditary myeloid malignancies.Best practice & research. Clinical haematology · 2019Review
- Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report.Journal of medical case reports · 2019Article
12 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 a rare inherited syndrome exhibiting marked clinical and genetic heterogeneity. It is characterised by mucocutaneous abnormalities, bone marrow failure and a predisposition to cancer. Bone marrow failure is the principal cause of premature mortality. Studies over the last 10 years have demonstrated that DC is principally a disease of defective telomere maintenance. All DC patients have very short telomeres and the genetically characterised cases of DC have mutations in six genes which either encode components of the telomerase complex (DKC1, TERC, TERT, NOP10, NHP2) or shelterin (TINF2); these are important in the elongation and protection of the telomeric end, respectively. These advances have led to the recognition of cryptic forms of DC, such as presentations with aplastic anaemia and myelodysplasia. They have also increased our understanding of normal haematopoiesis and provided new insights to the aetiology of some cases of aplastic anaemia and related haematological disorders.
Indexed as
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.