ReviewBlood2020
Diamond-Blackfan anemia.
Review in Blood, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07476183 (A Phase 1, Open-label, Single-arm Study of APR 2020 in Transfusion Dependent, Steroid Resistant Pediatric and Adolescent Subjects With RPS19 Deficient Diamond Blackfan Anemia by Transplantation of Autologous CD34+ Stem Cells Transduced With CLIN LV EFS coRPS19 PRE*), which is not on this map. Cited by 139 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.
A Phase 1, Open-label, Single-arm Study of APR 2020 in Transfusion Dependent, Steroid Resistant Pediatric and Adolescent Subjects With RPS19 Deficient Diamond Blackfan Anemia by Transplantation of Autologous CD34+ Stem Cells Transduced With CLIN LV EFS coRPS19 PRE* (APR-2020)
Who cites it
139 citing papers in PubMed, 1 synthesis or guideline pooled it, 219 citations in OpenAlex.
- Balancing benefits and burdens: a systematic review on ethical and social dimensions of gene and cell therapies for hereditary blood diseases.BMC medical ethics · 2025Pooled it
- Treatment of refractory/relapsed Diamond-Blackfan anaemia with eltrombopag.British journal of haematology · 2024Trial
- Proton pump inhibition for secondary hemochromatosis in hereditary anemia: a phase III placebo-controlled randomized cross-over clinical trial.American journal of hematology · 2022Trial
- Autophagy Defects and Mitochondrial Retention in Erythroid Diseases.International journal of molecular sciences · 2026Review
- Article
- Management of Iron Overload in Infants and Toddlers With Diamond-Blackfan Anemia Syndrome: A French-Italian Study.American journal of hematology · 2026Article
- Convergent nuclear proteostasis alterations across 40S ribosomal protein deficiencies.Nature communications · 2026Article
- Article
- Diverse stresses differentially regulate rRNA biogenesis and mRNA translation.Nucleic acids research · 2026Article
- DCAF13 Safeguards Hematopoietic Stem Cells via RRS1-Regulated Ribosome Biogenesis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Functional impact of a deep intronic variant in the RPS19 gene detected in a case of Diamond-Blackfan anemia syndrome.Haematologica · 2026Article
- RPS19 and RPL5 haploinsufficient models reveal divergent ribosomal subunit controls of fetal hematopoiesis.Nature communications · 2026Article
- Comprehensive transcriptomic analysis highlights immune and cell-cycle dysregulation in Diamond-Blackfan Anaemia.Molecular genetics and genomics : MGG · 2026Article
- Post-translational Modifications in Proteins: Prediction Methods, Biological Functions, and Diseases.MedComm · 2026Review
- Investigation of the expression and potential mechanistic role of BYSL in acute myeloid leukemia.Clinical and experimental medicine · 2026Article
- TKI-mediated inhibition of NLRP1 inflammasome restores erythropoiesis in DBA syndrome.EMBO molecular medicine · 2026Article
- Multi-omics analysis the effects of Dhx37 deficiency on testis development and nucleolar homeostasis.Cell death discovery · 2026Article
- Pediatric diamond-blackfan anemia after hematopoietic stem cell transplantation complicated by bronchiolitis obliterans and air-leak syndrome leading to lung transplantation: a case report with multimodal follow-up.Frontiers in immunology · 2026Article
- The ribosomal landscape in influenza A virus infection: from molecular mechanisms to clinical relevance.European respiratory review : an official journal of the European Respiratory Society · 2026Review
- A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the Literature.Molecular genetics & genomic medicine · 2026Review
79 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 3 institutions in 2 countries.
Funding
Abstract
Diamond-Blackfan anemia (DBA) was the first ribosomopathy described and is a constitutional inherited bone marrow failure syndrome. Erythroblastopenia is the major characteristic of the disease, which is a model for ribosomal diseases, related to a heterozygous allelic variation in 1 of the 20 ribosomal protein genes of either the small or large ribosomal subunit. The salient feature of classical DBA is a defect in ribosomal RNA maturation that generates nucleolar stress, leading to stabilization of p53 and activation of its targets, resulting in cell-cycle arrest and apoptosis. Although activation of p53 may not explain all aspects of DBA erythroid tropism, involvement of GATA1/HSP70 and globin/heme imbalance, with an excess of the toxic free heme leading to reactive oxygen species production, account for defective erythropoiesis in DBA. Despite significant progress in defining the molecular basis of DBA and increased understanding of the mechanistic basis for DBA pathophysiology, progress in developing new therapeutic options has been limited. However, recent advances in gene therapy, better outcomes with stem cell transplantation, and discoveries of putative new drugs through systematic drug screening using large chemical libraries provide hope for improvement.
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.