Trial reportPediatric blood & cancer2014
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.
Trial report in Pediatric blood & cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
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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
43 citing papers in PubMed, 82 citations in OpenAlex.
- Novel germline GATA1s-generating variant associates with somatic STAG2 variants in hypoplastic myelodysplastic neoplasm.British journal of haematology · 2026Article
- Review
- DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome.American journal of hematology · 2026Article
- miR-1202 acts as anti-oncomiR in myeloid leukaemia by down-modulating GATA-1Open biology · 2024Article
- GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.Advances in experimental medicine and biology · 2024Review
- Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.Annals of hematology · 2023Article
- Gata1s mutant mice display persistent defects in the erythroid lineage.Blood advances · 2023Article
- Article
- Leukemogenesis in infants and young children with trisomy 21.Hematology. American Society of Hematology. Education Program · 2022Article
- Article
- Genetics of inherited thrombocytopenias.Blood · 2022Review
- Article
- Article
- A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease.The Journal of molecular diagnostics : JMD · 2021Article
- Molecular Mechanisms of the Genetic Predisposition to Acute Megakaryoblastic Leukemia in Infants With Down Syndrome.Frontiers in oncology · 2021Review
- Diamond-Blackfan anemia.Blood · 2020Review
- Article
- GATA1 mutations in red cell disorders.IUBMB life · 2020Review
- Functional profiling of single CRISPR/Cas9-edited human long-term hematopoietic stem cells.Nature communications · 2019Article
- Single-cell analyses demonstrate that a heme-GATA1 feedback loop regulates red cell differentiation.Blood · 2019Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
Abstract
Mutations in the hematopoietic transcription factor GATA-1 alter the proliferation/differentiation of hemopoietic progenitors. Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s. These mutations have been found in patients with Diamond-Blackfan anemia (DBA), a congenital erythroid aplasia typically caused by mutations in genes encoding ribosomal proteins. We sequenced GATA-1 in 23 patients that were negative for mutations in the most frequently mutated DBA genes. One patient showed a c.2T > C mutation in the initiation codon leading to the loss of the full-length GATA-1 isoform.
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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.