ReviewInternational journal of hematology2001
Point mutations of the RUNx1/AML1 gene in sporadic and familial myeloid leukemias.
Review in International journal of hematology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed, 49 citations in OpenAlex.
- Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care.European journal of human genetics : EJHG · 2026Review
- Review
- Beyond PathogenicCancers · 2022Review
- Thermodynamic investigation of DNA-binding affinity of wild-type and mutant transcription factor RUNX1.PloS one · 2019Article
- Familial Acute Myeloid Leukemia and Myelodysplasia in Hungary.Pathology oncology research : POR · 2018Article
- Overexpression of MYCT1 Inhibits Proliferation and Induces Apoptosis in Human Acute Myeloid Leukemia HL-60 and KG-1a CellsFrontiers in pharmacology · 2018Article
- RUNX1 contributes to higher-order chromatin organization and gene regulation in breast cancer cells.Biochimica et biophysica acta · 2016Article
- Addiction to Runx1 is partially attenuated by loss of p53 in the Eµ-Myc lymphoma model.Oncotarget · 2016Article
- Detection of an Abnormal Myeloid Clone by Flow Cytometry in Familial Platelet Disorder With Propensity to Myeloid Malignancy.American journal of clinical pathology · 2016Article
- Article
- Novel Implications of DNA Damage Response in Drug Resistance of Malignant Cancers Obtained from the Functional Interaction between p53 Family and RUNX2.Biomolecules · 2015Review
- Review
- RUNX Family Participates in the Regulation of p53-Dependent DNA Damage Response.International journal of genomics · 2013Review
- Reverse engineering of TLX oncogenic transcriptional networks identifies RUNX1 as tumor suppressor in T-ALL.Nature medicine · 2012Article
- Article
- A novel mutation in the GATA1 gene associated with acute megakaryoblastic leukemia in a Korean Down syndrome patient.Journal of Korean medical science · 2008Article
- AML1/RUNX1 works as a negative regulator of c-Mpl in hematopoietic stem cells.The Journal of biological chemistry · 2008Article
- Psoriasis: genetic associations and immune system changes.Genes and immunity · 2007Review
- Understanding the pathogenesis of psoriasis, psoriatic arthritis, and autoimmunity via a fusion of molecular genetics and immunology.Immunologic research · 2005Review
- Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The RUNX1/AML1 gene is known to be the most frequent target for chromosomal translocation in leukemia. In addition, recent studies have demonstrated point mutations in the RUNX1 gene as an another mode of genetic lesion resulting in leukemia. Of particular interest, sporadic point mutations of biallelic type are found in a tight association with either the acute myelogenous leukemia (AML) MO subtype or trisomy 21. Germline mutations give rise to a familial platelet disorder that results in a predisposition to acute myelogenous leukemia (FPD/AML). Most of the RUNX1 mutants were defective in DNA binding but still active in beta binding, a characteristic that is consistent with the 3-dimensional structural findings and may explain the dominant inhibitory effects. Although genuine haploinsufficiency of RUNX1 was observed in some cases, a greater majority of mutant RUNX1 proteins may also act in a dominant-negative manner, possibly creating a higher propensity for leukemia development. The stronger dominant-negative effect was also deduced to be the major mechanism of the chimeric genes created by chromosomal translocations. The decrement of RUNXI activity may be a common underlying cause for RUNX1-related leukemias. However, because these RUNX1 abnormalities per se are insufficient for leukemogenesis, cooperating genetic alteration(s) should be intensively sought for further mechanistic insights and future clinical applications.
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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.