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ETV6 encodes an ETS family transcription factor.
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Study reveals a previously unrecognized synergism between ETV6/RUNX1 (show RUNX1 Proteins) and BCL2 (show BCL2 Proteins) impacting on malignant disease and autoimmunity.
Together with similar observations made in human PAX5 (show PAX5 Proteins)-ETV6(+) B-ALLs, these data identified PAX5 (show PAX5 Proteins)-ETV6 fusion as a potent oncoprotein that drives B-cell leukemia development.
ETV6 DNA binding inhibition is established by the stability of its inhibitory helix
Studied the combination of Etv6-RUNX1 (show RUNX1 Proteins) and Pax5 (show PAX5 Proteins)(+/-) alleles, they generated a transplantable B220 (show PTPRC Proteins) + CD19 (show CD19 Proteins)+ B-ALL with a significant disease incidence; RNA-seq analysis showed a gene expression pattern consistent with arrest at the pre-B stage.
In murine models of B-cell progenitors, evidence found that ETV6- RUNX1 (show RUNX1 Proteins) alters the expression of cytoskeletal regulatory genes, resulting in a block of the CDC42 (show CDC42 Proteins) signaling pathway, and compromises the chemotactic response to CXCL12 (show CXCL12 Proteins).
ETV6-SAM (show TTN Proteins) domain interface mutations block ETV6-NTRK3 (show NTRK3 Proteins)-induced cellular transformation
the autoinhibition of ETV6 DNA binding by sequences C-terminal to its ETS (show ETS1 Proteins) domain
find that both IRS1 (show IRS1 Proteins) and kinase active IGF1R (show IGF1R Proteins) are required for ETV6-NTRK3 (show NTRK3 Proteins) transformation, that tyrosine phosphorylated IRS1 (show IRS1 Proteins) is present in high molecular weight complexes with EN and IGF1R (show IGF1R Proteins), and that EN colocalizes with IGF1R (show IGF1R Proteins) at the plasma membrane
Cytogenetic study of 33 children with ETV6-RUNX1 (show RUNX1 Proteins) positive acute lymphoblastic leukemia predict long term survival.
TEL binding to IRF-8 (show IRF8 Proteins) for recruitment of HDAC3 (show HDAC3 Proteins) is regulated by gamma-interferon (show IFNG Proteins)
Dominant-negative truncated ETV6 with deletions of the ETS (show ETS1 Proteins) domain or the PNT (show ETS2 Proteins) domain interfered with repression by full-length ETV6 and affected expression of early hematopoietic and erythroid markers in embryos.
the transcriptional repressor Tel plays an evolutionarily conserved role in angiogenesis: it is indispensable for the sprouting of human endothelial cells and for normal development of the Danio rerio blood circulatory system
Nasopharyngeal carcinoma (NPC (show NPC1 Proteins)) super-enhancers with extraordinarily broad and high H3K27ac signals were identified, and they were linked to genes important for oncogenesis including ETV6. ETV6 was also highly expressed in NPC (show NPC1 Proteins) biopsies by immunohistochemistry
ETV6-RUNX1 (show RUNX1 Proteins) mutation is associated with childhood acute B-lymphoblastic leukemia.
Several studies addressed the mechanism by which ETV6/RUNX1 (show RUNX1 Proteins) (E/R) contributes to leukemogenesis, including the necessary secondary genetic lesions, the cellular framework in which E/R initially arises and the maintenance of a pre-leukemic condition. [review]
Patients with t(12;22)/MN1 (show MN1 Proteins)-EVT6 oncogene (show RAB1A Proteins), are frequently associated with myeloid neoplasms, poor response to chemotherapy, and inferior outcome.
Presence of fusion the genes BCR/ABL1, ETV6/RUNX1, and MLL/AF4 does not have any impact on the clinical and laboratory features of ALL at presentation.
ETV6/RUNX1 (show RUNX1 Proteins) (+) ALL may be heterogeneous in terms of prognosis, and variables such as MRD at end ofremission induction or additional structural abnormalities of 12p could define a subset of patients who are likely to have poor outcome.
Case Reports: mammary analog secretory carcinoma of the thyroid gland with ETV6 rearrangement and ETV6-NTRK3 (show NTRK3 Proteins) gene fusion.
The prevalence of ETV6-NTRK3 (show NTRK3 Proteins) kinase fusions were determined in papillary thyroid cancer ofan adult population
We report the case of a patient with an initial diagnosis of salivary acinic cell carcinoma later reclassified as Mammary analogue secretory carcinoma after next-generation sequencing revealed an ETV6-NTRK3 fusion (show NTRK3 Proteins).
Letter/Case Report: ETV6/MECOM (show MECOM Proteins) gene fusion in therapy-related acute myeloid leukemia (show BCL11A Proteins) with t(3;12) and monosomy 7.
This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma.
, ets variant gene 6 (TEL oncogene)
, ETS translocation variant 6
, ETS-related protein Tel1
, transcription factor ETV6
, ets domain protein
, TEL1 oncogene
, ets variant 6