ReviewThe Journal of clinical investigation2019
Transcription factor mutations as a cause of familial myeloid neoplasms.
Review in The Journal of clinical investigation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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.
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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
34 citing papers in PubMed, 70 citations in OpenAlex.
- GATA2 decommissioning of enhancers: A mechanism to constrain inflammatory signaling.Cell reports · 2025Article
- E2 ubiquitin-conjugating enzyme Ubc11 regulates Rst2 protein stability in the fission yeast Schizosaccharomyces pombe.Archives of microbiology · 2025Article
- Dual mechanism of inflammation sensing by the hematopoietic progenitor genome.Science advances · 2025Article
- Specifying cellular context of transcription factor regulons for exploring context-specific gene regulation programs.NAR genomics and bioinformatics · 2025Article
- Diagnosis and typing of leukemia using a single peripheral blood cell through deep learning.Cancer science · 2025Article
- Specifying cellular context of transcription factor regulons for exploring context-specific gene regulation programs.bioRxiv : the preprint server for biology · 2024Article
- A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins.Blood advances · 2023Article
- Cellular and metabolic characteristics of pre-leukemic hematopoietic progenitors with GATA2 haploinsufficiency.Haematologica · 2023Article
- Human VDAC pseudogenes: an emerging role for VDAC1P8 pseudogene in acute myeloid leukemia.Biological research · 2023Article
- Glycosphingolipid-Glycan Signatures of Acute Myeloid Leukemia Cell Lines Reflect Hematopoietic Differentiation.Journal of proteome research · 2022Article
- Single-cell analysis of transcription factor regulatory networks reveals molecular basis for subtype-specific dysregulation in acute myeloid leukemia.Blood science (Baltimore, Md.) · 2022Article
- GATA2 deficiency elevates interferon regulatory factor-8 to subvert a progenitor cell differentiation program.Blood advances · 2022Article
- Epigenomic analysis of KLF1 haploinsufficiency in primary human erythroblasts.Scientific reports · 2022Article
- Conditionally pathogenic genetic variants of a hematopoietic disease-suppressing enhancer.Science advances · 2021Article
- Genetics of Myelodysplastic Syndromes.Cancers · 2021Review
- RUNX-1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells.Blood · 2021Article
- The functional interplay of transcription factors and cell adhesion molecules in experimental myelodysplasia including hematopoietic stem progenitor compartment.Molecular and cellular biochemistry · 2021Article
- Therapeutic Vulnerabilities of Transcription Factors in AML.Molecular cancer therapeutics · 2021Review
- Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report.Clinical case reports · 2020Article
- Constructing and deconstructing GATA2-regulated cell fate programs to establish developmental trajectories.The Journal of experimental medicine · 2020Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
The initiation and evolution of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) are driven by genomic events that disrupt multiple genes controlling hematopoiesis. Human genetic studies have discovered germline mutations in single genes that instigate familial MDS/AML. The best understood of these genes encode transcription factors, such as GATA-2, RUNX1, ETV6, and C/EBPα, which establish and maintain genetic networks governing the genesis and function of blood stem and progenitor cells. Many questions remain unanswered regarding how genes and circuits within these networks function in physiology and disease and whether network integrity is exquisitely sensitive to or efficiently buffered from perturbations. In familial MDS/AML, mutations change the coding sequence of a gene to generate a mutant protein with altered activity or introduce frameshifts or stop codons or disrupt regulatory elements to alter protein expression. Each mutation has the potential to exert quantitatively and qualitatively distinct influences on networks. Consistent with this mechanistic diversity, disease onset is unpredictable and phenotypic variability can be considerable. Efforts to elucidate mechanisms and forge prognostic and therapeutic strategies must therefore contend with a spectrum of patient-specific leukemogenic scenarios. Here we illustrate mechanistic advances in our understanding of familial MDS/AML syndromes caused by germline mutations of hematopoietic transcription factors.
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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 Socratic graph.