ReviewBlood2014
Bone marrow failure and the telomeropathies.
Review in Blood, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 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
134 citing papers in PubMed, 1 synthesis or guideline pooled it, 278 citations in OpenAlex.
- Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2017Guideline
- Stanozolol improves the progression-free survival of patients with high-risk myelodysplastic syndrome after decitabine treatment.International journal of hematology · 2021Trial
- Eltrombopag Added to Standard Immunosuppression for Aplastic Anemia.The New England journal of medicine · 2017Trial
- Danazol Treatment for Telomere Diseases.The New England journal of medicine · 2016Trial
- 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
- Telomere length analysis using qPCR in aplastic anemia: prevalence and predictive value for germline mutation status.Blood research · 2026Article
- Evidence- and opinion-based consensus from Delphi round 1 of the Asian aplastic anemia recommendation development.International journal of hematology · 2026Article
- A Military Veteran with Pulmonary Fibrosis, Hepatic Cirrhosis, Bone Marrow Dysfunction and Shortened Telomeres Found to Have GAVE, a Potential Unsuspected Consequence of Telomere Spectrum Disorder.Journal of clinical medicine · 2026Article
- Cyclosporine in hematological disorders: mechanisms, clinical practice and emerging advances.Annals of hematology · 2026Review
- Monoallelic PARN mutation presenting as pancytopenia, hepatic fibrosis and idiopathic pulmonary fibrosis.BMJ case reports · 2026Article
- Dyskeratosis Congenita: Clinical Phenotype and Genetic Features in a Sibling Pair.Clinical, cosmetic and investigational dermatology · 2026Article
- Incidence trends of aplastic anaemia in Kazakhstan: a nationwide study (2014-2024).Frontiers in medicine · 2026Article
- Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk.Nature communications · 2025Article
- Hereditary Hematopoietic Malignancies: Considerations for Optimizing Diagnosis and Management.Current oncology reports · 2025Review
- Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.Blood advances · 2025Article
- Association Between Telomere Shortening and Erythropoietin Resistance in Patients with Chronic Kidney Disease Undergoing Hemodialysis.International journal of molecular sciences · 2025Observational
- Telomeropathies in Interstitial Lung Disease and Lung Transplant Recipients.Journal of clinical medicine · 2025Review
- 37 kDa LRP::FLAG enhances telomerase activity and reduces ageing markers in vivo.Cellular and molecular life sciences : CMLS · 2025Article
- Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.International journal of molecular sciences · 2025Article
- Telomere biology disorder presented with de novo pneumocystis jirovecii pneumonia: A case report.Respiratory medicine case reports · 2025Article
74 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
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Our understanding of the pathophysiology of aplastic anemia is undergoing significant revision, with implications for diagnosis and treatment. Constitutional and acquired disease is poorly delineated, as lesions in some genetic pathways cause stereotypical childhood syndromes and also act as risk factors for clinical manifestations in adult life. Telomere diseases are a prominent example of this relationship. Accelerated telomere attrition is the result of mutations in telomere repair genes and genes encoding components of the shelterin complex and related proteins. Genotype-phenotype correlations show genes responsible for X-linked (DKC1) and severe recessive childhood dyskeratosis congenita, typically with associated mucocutaneous features, and others (TERC and TERT) for more subtle presentation as telomeropathy in adults, in which multiorgan failure may be prominent. Telomerase mutations also are etiologic in familial pulmonary fibrosis and cryptic liver disease. Detection of a telomere disease requires awareness in the clinic, appropriate laboratory testing of telomere content, and genetic sequencing. In treatment decisions, genetic screening of related donors for hematopoietic stem cell transplantation is critical, and androgen therapy may be helpful. Telomeres shorten normally with aging, as well as under environmental circumstances, with regenerative stress and oxidative damage. Telomere biology is complexly related to oncogenesis: telomere attrition is protective by enforcing senescence or apoptosis in cells with a long mitotic history, but telomere loss also can destabilize the genome by chromosome rearrangement and aneuploidy.
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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.