ArticleThe Journal of experimental medicine2019
Impaired human hematopoiesis due to a cryptic intronic
Article in The Journal of experimental medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 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.
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Who cites it
28 citing papers in PubMed.
- Quantitative analysis of DNA-GATA1 binding alterations linked to hematopoietic disorders.The FEBS journal · 2026Article
- Article
- Genetic variation reveals a homeotic long noncoding RNA that modulates human hematopoietic stem cells.bioRxiv : the preprint server for biology · 2025Article
- Splicing of erythroid transcription factor is associated with therapeutic response in myelodysplastic syndromes.The Journal of clinical investigation · 2025Article
- Orphan Nuclear Receptors TR2 and TR4 in Erythropoiesis: From Mechanisms to Therapies.Biomolecules · 2025Review
- Splicing the Difference: Harnessing the Complexity of the Transcriptome in Hematopoiesis.Experimental hematology · 2024Review
- Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia.JCI insight · 2024Article
- GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.Advances in experimental medicine and biology · 2024Review
- RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.Developmental cell · 2023Article
- Single-cell multi-omics defines the cell-type-specific impact of splicing aberrations in human hematopoietic clonal outgrowths.Cell stem cell · 2023Article
- Review
- RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation.medRxiv : the preprint server for health sciences · 2023Article
- Article
- NovelCells · 2022Article
- Genetics of inherited thrombocytopenias.Blood · 2022Review
- Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1.Blood · 2022Article
- Article
- Dyserythropoietic anaemia with an intronicEJHaem · 2022Article
- Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing.PLoS genetics · 2021Article
- Deciphering transcriptional and functional heterogeneity in hematopoiesis with single-cell genomics.Current opinion in hematology · 2021Review
Corrections and comments
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Authors and funding
20 authors.
Funding
Abstract
Studies of allelic variation underlying genetic blood disorders have provided important insights into human hematopoiesis. Most often, the identified pathogenic mutations result in loss-of-function or missense changes. However, assessing the pathogenicity of noncoding variants can be challenging. Here, we characterize two unrelated patients with a distinct presentation of dyserythropoietic anemia and other impairments in hematopoiesis associated with an intronic mutation in
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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.