ArticleBlood2010
RUNX1/core binding factor A2 regulates platelet 12-lipoxygenase gene (ALOX12): studies in human RUNX1 haplodeficiency.
Article in Blood, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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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
32 citing papers in PubMed, 69 citations in OpenAlex.
- Harnessing machine learning and multi-scale modeling to discover novel ALOX15 inhibitors from marine natural products.Molecular diversity · 2026Article
- Article
- A Comparative Analysis of Effectiveness of Recombinant Interleukin-11 Versus Papaya Leaf Extract for Treatment of Thrombocytopenia: A Review.Indian journal of clinical biochemistry : IJCB · 2023Review
- An Updated Overview of the Role of CYP450 during Xenobiotic Metabolization in Regulating the Acute Myeloid Leukemia Microenvironment.International journal of molecular sciences · 2023Review
- Antiviral & platelet-protective properties ofThe Indian journal of medical research · 2022Article
- Interplay between platelets and coagulation.Blood reviews · 2021Review
- Bleeding risks for uncharacterized platelet function disorders.Research and practice in thrombosis and haemostasis · 2020Article
- Development of a Bioinformatics Framework for Identification and Validation of Genomic Biomarkers and Key Immunopathology Processes and Controllers in Infectious and Non-infectious Severe Inflammatory Response Syndrome.Frontiers in immunology · 2020Article
- Probing the Electrostatic and Steric Requirements for Substrate Binding in Human Platelet-Type 12-Lipoxygenase.Biochemistry · 2019Article
- Transcription factor mutations as a cause of familial myeloid neoplasms.The Journal of clinical investigation · 2019Review
- An open-label, randomized prospective study to evaluate the efficacy and safety ofPediatric health, medicine and therapeutics · 2019Article
- Defective RAB1B-related megakaryocytic ER-to-Golgi transport in RUNX1 haplodeficiency: impact on von Willebrand factor.Blood advances · 2018Article
- Transcription Factor RUNX1 Regulates PlateletCirculation · 2017Article
- Defective acid hydrolase secretion in RUNX1 haplodeficiency: Evidence for a global platelet secretory defect.Haemophilia : the official journal of the World Federation of Hemophilia · 2017Article
- Article
- Hematopoietic transcription factor mutations: important players in inherited platelet defects.Blood · 2017Review
- Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.Journal of thrombosis and haemostasis : JTH · 2017Article
- Review
- Systems Pharmacogenomics Finds RUNX1 Is an Aspirin-Responsive Transcription Factor Linked to Cardiovascular Disease and Colon Cancer.EBioMedicine · 2016Article
- The role of lipoxygenases in pathophysiology; new insights and future perspectives.Redox biology · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 2 countries.
Funding
Abstract
Haploinsufficiency of RUNX1 (also known as CBFA2/AML1) is associated with familial thrombocytopenia, platelet dysfunction, and predisposition to acute leukemia. We have reported on a patient with thrombocytopenia and impaired agonist-induced aggregation, secretion, and protein phosphorylation associated with a RUNX1 mutation. Expression profiling of platelets revealed approximately 5-fold decreased expression of 12-lipoxygenase (12-LO, gene ALOX12), which catalyzes 12-hydroxyeicosatetraenoic acid production from arachidonic acid. We hypothesized that ALOX12 is a direct transcriptional target gene of RUNX1. In present studies, agonist-induced platelet 12-HETE production was decreased in the patient. Four RUNX1 consensus sites were identified in the 2-kb promoter region of ALOX12 (at -1498, -1491, -708, -526 from ATG). In luciferase reporter studies in human erythroleukemia cells, mutation of each site decreased activity; overexpression of RUNX1 up-regulated promoter activity, which was abolished by mutation of RUNX1 sites. Gel shift studies, including with recombinant protein, revealed RUNX1 binding to each site. Chromatin immunoprecipitation revealed in vivo RUNX1 binding in the region of interest. siRNA knockdown of RUNX1 decreased RUNX1 and 12-LO proteins. ALOX12 is a direct transcriptional target of RUNX1. Our studies provide further proof of principle that platelet expression profiling can elucidate novel alterations in platelets with inherited dysfunction.
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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.