Germline mutations in gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation of W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from acute lymphoblastic leukemia (ALL) or essential thrombocythemia (ET). analysis predicted impaired DNA binding due to W380R mutation. Functional analysis showed that this mutation prevents the ETV6 protein from localizing into the cell nucleus and impairs the transcriptional repression activity of ETV6. Based on the germline mutation, ET probably started with somatic V617F mutation, whereas ALL could be caused by diverse mechanisms: high-hyperdiploidity; somatic deletion of exon 1 gene; or somatic mutations of other genes found by exome sequencing of the ALL sample taken at the diagnosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/09537104.2020.1802416 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Near-infrared spectroscopy combined with vascular occlusion test to predict acute kidney injury in patients undergoing cardiac surgery: a prospective observational study.
J Cardiothorac Surg
January 2025
Department of Anesthesiology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, 610041, China.
Background: Near-infrared spectroscopy (NIRS) enables a non-invasive measurement of tissue oxygen saturation (StO) in regions illuminated by near-infrared lights. Vascular occlusion test (VOT) serves as a model to artificially induce forearm ischemia-reperfusion. The combination of StO monitoring and VOT allows for dynamic evaluation of the balance between oxygen delivery and consumption in tissue, as well as the functional reserve of microcirculation.
View Article and Find Full Text PDFSynthesis of α,β-Unsaturated Carbonyl Compounds via Cu/TEMPO/O2 Aerobic Catalytic System.
Chemistry
January 2025
Shihezi University, School of Chemistry and Chemical Engineering/State Key Laboratory Incubation Base for Green Processing of Chemical Engineering, North 4th Road, 832003, Shihezi, CHINA.
An N,N,N-type Cu(Ⅱ) complex-catalyzed desaturation method for converting alcohols, ketones, lactones, and lactams to their α,β-unsaturated carbonyl compounds is reported. The dehydrogenation reaction can be conducted with a green terminal oxidant O2 without requiring strong acid/base or stoichiometric oxidants. The Cu(Ⅱ) complex/TEMPO/O2 system uses a non-noble catalyst, and a green terminal oxidant as well as demonstrates high activity and functional group tolerance.
View Article and Find Full Text PDFDynamic EIT technology for real-time non-invasive monitoring of acute pulmonary embolism: a porcine model experiment.
Respir Res
January 2025
Shaanxi Provincial Key Laboratory of Bioelectromagnetic Detection and Intelligent Perception, Department of Biomedical Engineering, Air Force Medical University, Xi'an, 710032, China.
Background: Acute pulmonary embolism represents the third most prevalent cardiovascular pathology, following coronary heart disease and hypertension. Its untreated mortality rate is as high as 20-30%, which represents a significant threat to patient survival. In view of the current lack of real-time monitoring techniques for acute pulmonary embolism, this study primarily investigates the potential of the pulsatility electrical impedance tomography (EIT) technique for the detection and real-time monitoring of acute pulmonary embolism through the collection and imaging of the pulsatile signal of pulmonary blood flow.
View Article and Find Full Text PDFComparative assessment of a virtual performance measure with self-report and performance-based outcomes in patients with hip osteoarthritis.
BMC Musculoskelet Disord
January 2025
Sunnybrook Research Institute, Sunnybrook Health Sciences Centre, Toronto, Canada.
Background: The purposes of this study were to examine the reliability and factorial and convergent validity of a virtual performance measure (VPM) in patients with osteoarthritis (OA) of the hip joint and to compare the known-group validity of the VPM with traditional self-report and performance-based outcomes.
Methods: The VPM score was based on the results of 10 videos showing increasing difficulty in performing specific functional tasks. Patients were requested to choose the video that best reflected their own level of function.
Elevated miR-221-3p inhibits epithelial-mesenchymal transition and biochemical recurrence of prostate cancer via targeting KPNA2: an evidence-based and knowledge-guided strategy.
BMC Cancer
January 2025
Department of Urology, The First Affiliated Hospital of Soochow University, Suzhou, 215006, China.
Background: Prostate cancer (PCa) is commonly occurred among males worldwide and its prognosis could be influenced by biochemical recurrence (BCR). MicroRNAs (miRNAs) are functional regulators in carcinogenesis, and miR-221-3p was reported as one of the significant candidates deregulated in PCa. However, its regulatory pattern in PCa BCR across literature reports was not consistent, and the targets and mechanisms in PCa malignant transition and BCR are less explored.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!