ArticleNature genetics2015
Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 131 citations in OpenAlex.
- The multiplex crosstalk between non-coding RNAs, programmed cell death and related mechanisms: a dynamic duo in hematological malignancies.Cancer cell international · 2025Review
- Evolution of myeloproliferative neoplasms from normal blood stem cells.Haematologica · 2025Review
- VPS13 and bridge-like lipid transporters, mechanisms, and mysteries.Frontiers in neuroscience · 2025Review
- Evaluation of theHaematologica · 2024Article
- Driver mutation zygosity is a critical factor in predicting clonal hematopoiesis transformation risk.Blood cancer journal · 2024Article
- Editorial: Biological and clinical implications of the mutational landscape in myeloproliferative neoplasms.Frontiers in oncology · 2024Article
- GSKIP modulates cell aggregation through EMT/MET signaling rather than differentiation in SH-SY5Y human neuroblastoma cells.Journal of cell communication and signaling · 2023Article
- Characterization of myeloproliferative neoplasms in the paediatric and young adult population.British journal of haematology · 2023Article
- MicroRNAs as the critical regulators of autophagy-mediated cisplatin response in tumor cells.Cancer cell international · 2023Review
- Review
- Recurrent germline variant in ATM associated with familial myeloproliferative neoplasms.Leukemia · 2023Article
- Mutations, inflammation and phenotype of myeloproliferative neoplasms.Frontiers in oncology · 2023Review
- Autophagy in Hematological Malignancies.Cancers · 2022Review
- The prognostic value of autophagy related genes with potential protective function in Ewing sarcoma.BMC bioinformatics · 2022Article
- CHST15 gene germline mutation is associated with the development of familial myeloproliferative neoplasms and higher transformation risk.Cell death & disease · 2022Article
- How I diagnose and treat chronic myelomonocytic leukemia.Haematologica · 2022Article
- The dual role of autophagy in acute myeloid leukemia.Journal of hematology & oncology · 2022Review
- Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development.BMC cancer · 2022Article
- Loss ofMolecular and cellular biology · 2022Article
- Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms.Leukemia · 2022Article
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Authors and funding
31 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
No major predisposition gene for familial myeloproliferative neoplasms (MPN) has been identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb duplication in four genetically related families predisposes to myeloid malignancies, including MPN, frequently progressing to leukemia. Using induced pluripotent stem cells and primary cells, we demonstrate that overexpression of ATG2B and GSKIP enhances hematopoietic progenitor differentiation, including of megakaryocytes, by increasing progenitor sensitivity to thrombopoietin (TPO). ATG2B and GSKIP cooperate with acquired JAK2, MPL and CALR mutations during MPN development. Thus, the germline duplication may change the fitness of cells harboring signaling pathway mutations and increases the probability of disease development.
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