ReviewJournal of blood medicine2014
The diagnosis and treatment of dyskeratosis congenita: a review.
Review in Journal of blood medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 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
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 142 citations in OpenAlex.
- Guideline
- Genomic, phenomic and geographic associations of leukocyte telomere length in the United States.Nature genetics · 2026Article
- Cirrhosis of Liver in Patients With Dyskeratosis Congenita: A Report of Two Cases.Clinical case reports · 2026Article
- Germline variants in acquired aplastic anemia: current knowledge and future perspectives.Haematologica · 2024Review
- Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists.Archives of dermatological research · 2024Review
- Dyskeratosis congenita: a rare case report.Oxford medical case reports · 2024Article
- Potentials of ribosomopathy gene as pharmaceutical targets for cancer treatment.Journal of pharmaceutical analysis · 2024Review
- Linking Gene Fusions to Bone Marrow Failure and Malignant Transformation in Dyskeratosis Congenita.International journal of molecular sciences · 2024Article
- Inborn Errors of Immunity and Cytokine Storm Syndromes.Advances in experimental medicine and biology · 2024Review
- Boosting NAD ameliorates hematopoietic impairment linked to short telomeres in vivo.GeroScience · 2023Article
- Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Overview of familial syndromes with increased skin malignancies.Archives of dermatological research · 2023Review
- Dyskeratosis congenita with heterozygousRespiratory medicine case reports · 2023Article
- Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood.Frontiers in pediatrics · 2023Article
- Late Presentation of Dyskeratosis Congenita: Germline Predisposition to Adult-Onset Secondary Acute Myeloid Leukemia.Hematology reports · 2022Article
- Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.Genes · 2022Review
- Molecular insight of dyskeratosis congenita: Defects in telomere length homeostasis.Journal of clinical and translational research · 2022Review
- Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.Journal of clinical immunology · 2022Article
- Age-specific oncogenic pathways in head and neck squamous cell carcinoma - are elderly a different subcategory?Cellular oncology (Dordrecht, Netherlands) · 2022Review
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 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dyskeratosis congenita (DC) is an inherited bone marrow failure (BMF) syndrome characterized by the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. However, patients usually develop BMF and are predisposed to cancer, with increased risk for squamous cell carcinoma and hematolymphoid neoplasms. DC is a disease of defective telomere maintenance and is heterogeneous at the genetic level. It can be inherited in X-linked, autosomal dominant, or autosomal recessive patterns. Mutations in at least ten telomere- and telomerase-associated genes have been described in DC. There are no targeted therapies for DC and patients usually die of BMF due to a deficient renewing capability of hematopoietic stem cells. Allogeneic hematopoietic stem cell transplantation is the only curative treatment for BMF.
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.