ArticleThe Journal of clinical investigation2014
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
Article in The Journal of clinical investigation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
79 citing papers in PubMed, 1 synthesis or guideline pooled it, 201 citations in OpenAlex.
- Exome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation.Platelets · 2019Pooled it
- Eltrombopag use in surgical procedures in inherited thrombocytopenia: expanding the role of thrombopoietin-receptor agonists.Research and practice in thrombosis and haemostasis · 2026Article
- Article
- Limited availability of variant-specific germ line data creates challenges in the interpretation of myeloid NGS panels.Blood vessels, thrombosis & hemostasis · 2026Article
- Moving Beyond Somatic Alterations: Uncovering the Germline Basis of Myeloid Malignancies.Cancers · 2026Review
- The Complex Role of MAPK/ERK Signaling Pathway in Different Types of Thrombocytopenia.Current issues in molecular biology · 2025Review
- An unconquered challenge in MDS: review of pathophysiology, clinical manifestations, and management options of MDS with thrombocytopenia.Annals of hematology · 2025Review
- Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.International journal of molecular sciences · 2025Article
- Article
- FLI1 and GATA1 governHaematologica · 2025Article
- Modeling ANKRD26 5'-UTR mutation-related thrombocytopenia.Disease models & mechanisms · 2025Article
- Inherited Predispositions to Myeloid Neoplasms: Pathogenesis and Clinical Implications.Annual review of pathology · 2025Review
- Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.Cells · 2024Article
- Review
- GATA binding protein 2 mediated ankyrin repeat domain containing 26 high expression in myeloid-derived cell lines.World journal of stem cells · 2024Article
- ANKRD26 is a new regulator of type I cytokine receptor signaling in normal and pathological hematopoiesis.Haematologica · 2023Article
- Thrombopoietin receptor agonist antibody for treating chemotherapy-induced thrombocytopenia.BMC cancer · 2023Article
- Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.Blood · 2023Article
- An Updated Overview of the Role of CYP450 during Xenobiotic Metabolization in Regulating the Acute Myeloid Leukemia Microenvironment.International journal of molecular sciences · 2023Review
- ANKRD26 Gene Variant of Uncertain Significance in a Patient With Acute Myeloid Leukemia.Cureus · 2023Article
19 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 3 countries.
Funding
Abstract
Point mutations in the 5' UTR of ankyrin repeat domain 26 (ANKRD26) are associated with familial thrombocytopenia 2 (THC2) and a predisposition to leukemia. Here, we identified underlying mechanisms of ANKRD26-associated thrombocytopenia. Using megakaryocytes (MK) isolated from THC2 patients and healthy subjects, we demonstrated that THC2-associated mutations in the 5' UTR of ANKRD26 resulted in loss of runt-related transcription factor 1 (RUNX1) and friend leukemia integration 1 transcription factor (FLI1) binding. RUNX1 and FLI1 binding at the 5' UTR from healthy subjects led to ANKRD26 silencing during the late stages of megakaryopoiesis and blood platelet development. We showed that persistent ANKRD26 expression in isolated MKs increased signaling via the thrombopoietin/myeloproliferative leukemia virus oncogene (MPL) pathway and impaired proplatelet formation by MKs. Importantly, we demonstrated that ERK inhibition completely rescued the in vitro proplatelet formation defect. Our data identify a mechanism for development of the familial thrombocytopenia THC2 that is related to abnormal MAPK signaling.
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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.