ArticleHaematologica2017
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors.
Article in Haematologica, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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Who cites it
45 citing papers in PubMed, 83 citations in OpenAlex.
- Article
- Altered cytoskeletal integrity underlies impaired platelet shape change and defective thrombus formation in ETV6-related thrombocytopenia.British journal of haematology · 2026Article
- Genome-Wide Association Studies for 24 Hematological Traits in Production Pigs Before and After Weaning.Animal genetics · 2026Article
- Molecular diagnosis of inherited platelet disorder via a targeted whole-exome virtual gene panel: a 5-year institutional experience.Research and practice in thrombosis and haemostasis · 2026Article
- Role of Macrophage-Related Genes GAS7 and ZEB2 in Acute Myocardial Infarction Pathogenesis.Human mutation · 2026Article
- Review
- Rare germline ETV6 variant associated with thrombocytopenia and acute leukemia.Annals of hematology · 2025Article
- Impact of ETV6 mutations on clinical outcomes in acute myeloid leukemia: a real-world retrospective cohort study.Annals of hematology · 2025Article
- Article
- Germline predisposition to myeloid neoplasms: Characteristics and management of high versus variable penetrance disorders.Best practice & research. Clinical haematology · 2024Review
- The Diverse Roles of ETV6 Alterations in B-Lymphoblastic Leukemia and Other Hematopoietic Cancers.Advances in experimental medicine and biology · 2024Review
- ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice.Blood advances · 2023Article
- More than just mild thrombocytopenia: Clinical clues in the diagnosis of germline predisposition to malignancy from a rareClinical case reports · 2023Article
- Germline and somatic drivers in inherited hematologic malignancies.Frontiers in oncology · 2023Review
- Combined heterozygosity of FLT3 ITD, TET2, and DNMT3A results in aggressive leukemia.JCI insight · 2022Article
- ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism.Haematologica · 2022Article
- The genetics of myelodysplastic syndromes and the opportunities for tailored treatments.Frontiers in oncology · 2022Review
- Article
- Megakaryopoiesis and Platelet Biology: Roles of Transcription Factors and Emerging Clinical Implications.International journal of molecular sciences · 2021Review
- ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor.International journal of hematology · 2021Article
Corrections and comments
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Authors and funding
27 authors at 12 institutions in 4 countries.
Funding
Abstract
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia and hematologic malignancy. We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6, of which five are novel. We observed low repressive activity of all tested ETV6 variants, and variants located in the E26 transformation-specific binding domain (encoding p.A377T, p.Y401N) led to reduced binding to corepressors. We also observed a large expansion of megakaryocyte colony-forming units derived from variant carriers and reduced proplatelet formation with abnormal cytoskeletal organization. The defect in proplatelet formation was also observed in control CD34
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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.