MYB represses ζ-globin expression through upregulating ETO2.

Reactivating the embryonic ζ-globin gene represents a potential therapeutic approach to ameliorate the severe clinical phenotype of α-thalassemia and sickle cell disease. The transcription factor MYB has been extensively proven to be a master regulator of the γ-globin gene, but its role in the regulation of ζ-globin remains incompletely understood. Here, we report a mechanistic study on the derepression of ζ-globin both and .

Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Despite the well-documented mutation spectra of β-thalassemia, the genetic variants and haplotypes of globin gene clusters modulating its clinical heterogeneity remain incompletely illustrated. Here, a targeted long-read sequencing (T-LRS) is demonstrated to capture 20 genes/loci in 1,020 β-thalassemia patients. This panel permits not only identification of thalassemia mutations at 100% of sensitivity and specificity, but also detection of rare structural variants (SVs) and single nucleotide variants (SNVs) in modifier genes/loci.

Identification of 3-hydroxy-3-methylglutaryl monoacyl-coenzyme A reductase (HMGR) associated with the synthesis of terpenoids in Santalum album L.

Santalum album is an economically important plant in the craft, spices and medicine industries. The main chemical constituents found in sandalwood essential oils are sesquiterpenes. 3-Hydroxy-3-methylglutaryl monoacyl-coenzyme A reductase (HMGR) is one of the rate-limiting enzymes required for the synthesis of sandal sesquiterpenes, but there are no studies on the HMGR gene in S.

Mutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globin.

Accumulation of free α-globin is a critical factor in the pathogenesis of β-thalassemia. Autophagy plays a crucial role in clearing toxic free α-globin, thereby reducing disease severity. However, the impact of natural mutations in autophagy-related genes (ATGs) on the phenotypic variability of β-thalassemia remains unclear.

Machine learning-driven image synthesis and analysis applications for inertial confinement fusion (invited).

Recent fusion breakeven [Abu-Shawareb et al., Phys. Rev.

RRM2 Is a Putative Biomarker and Promotes Bladder Cancer Progression via PI3K/AKT/mTOR Pathway.

Bladder cancer (BLCA) is the tenth most common cancer worldwide, characterized by its high recurrence and progression rates. Thus, identifying prognostic biomarkers and understanding its underlying mechanisms are imperative to enhance patient outcomes. In this study, we aimed to investigate the prognostic significance, expression, functional activity, and underlying mechanisms of RRM2 in BLCA.

POU3F4 up-regulates Gli1 expression and promotes neuronal differentiation and synaptic development of hippocampal neural stem cells.

Background: Neural stem cells (NSCs) are considered to be the most promising cell type for cell replacement therapy in neurodegenerative diseases. However, their low neuronal differentiation ratio impedes their application in such conditions. Elucidating the molecular mechanism of NSC differentiation may provide the necessary experimental basis for expanding their application.

Comparative transcriptomic and hormonal analyses reveal potential regulation networks of adventitious root formation in Metasequoia glyptostroboides Hu et Cheng.

Background: The extract from Metasequoia glyptostroboides Hu et Cheng, a rare and endangered species native to China, exhibits numerous biological and pharmacological activities. The species is recalcitrant to rooting during micropropagation, a challenge that has yet to be resolved. In this study, transcriptomic and hormonal analyses were conducted to appreciate the molecular mechanism of adventitious root (AR) formation in optimized rooting conditions.

Activation of γ-globin expression by a common variant disrupting IKAROS-binding motif in β-thalassemia.

Programmed silencing of γ-globin genes in adult erythropoiesis is mediated by several chromatin remodeling complexes, which determine the stage-specific genome architecture in this region. Identification of cis- or trans-acting mutations contributing to the diverse extent of Hb F might illustrate the underlying mechanism of γ-β globin switching. Here, we recruit a cohort of 1142 β-thalassemia patients and dissect the natural variants in the whole β-globin gene cluster through a targeted next-generation sequencing panel.

Health-related quality of life and associated factors among children with Transfusion-dependent β-thalassaemia: a cross-sectional study in Guangxi Province.

Background: Transfusion-dependent β-thalassemia (TDT) is a severe inherited disorder. Without regular treatment, patients with TDT experience complications that can significantly shorten life expectancy and severely impact both their quality of life and that of their families. The condition has attracted significant attention in global health discussions.

Collaborative Filtering for the Imputation of Patient Reported Outcomes.

This study addresses the prevalent issue of missing data in patient-reported outcome datasets, particularly focusing on head and neck cancer patient symptom ratings sourced from the MD Anderson Symptom Inventory. Given that many data mining and machine learning algorithms necessitate complete datasets, the accurate imputation of missing data as an initial step becomes crucial. In this study we propose, for the first time, the use of collaborative filtering for imputing missing head and neck cancer patient symptom ratings.

Y-27632 targeting ROCK1&2 modulates cell growth, fibrosis and epithelial-mesenchymal transition in hyperplastic prostate by inhibiting β-catenin pathway.

Benign prostatic hyperplasia (BPH) is a prevalent condition affecting the male urinary system, with its molecular mechanisms of pathogenesis remaining unclear. Y-27632, a non-isoform-selective Rho kinase inhibitor, has shown therapeutic potential in various diseases but its effects on static factors and fibrosis in BPH remain unexplored. This study investigated human prostate tissues, human prostate cell lines, and BPH rat model using immunofluorescence, flow cytometry, quantitative reverse transcription polymerase chain reaction, western blotting, and cell counting kit-8.

The combined application of electromagnetic navigation and porcine fibrin sealant in microwave ablation of lung tumors.

Purpose: This retrospective study aims to assess the efficacy of the combined application of electromagnetic navigation (EMN) and porcine fibrin sealant (PFS) in the microwave ablation (MWA) treatment of lung tumors.

Material And Methods: In our department from January 2022 to August 2023, 73 patients underwent MWA under standard computed tomography (CT) guidance (CT group) or CT guidance with additional application of EMN and PFS (CT-EMN-PFS group), respectively. The basic data of patients were recorded and analyzed using the Student's -test and Chi-square test between the two groups, and single factor and multi-factors binary logistic regression analyses were conducted to determine the risk factors of pneumothorax; meanwhile the incidence of complications, the number of CT scans and dose length product (DLP) were calculated and compared between the two guidance modes.

Lipid emulsion attenuates vasodilation by decreasing intracellular calcium and nitric oxide in vascular endothelial cells.

Lipid emulsion (LE), a widely used parenteral nutrition, exhibits a well-documented ability to reverse the vasodilatory effects induced by acetylcholine in blood vessels. However, the specific mechanisms underlying this action are not yet fully understood. This study aimed to elucidate the mechanism by which LE reverses vasodilation in vitro through dose-response curve experiments, calcium imaging, and fluorescence assays.

SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.

Objective: Thalassemia is a Mendelian-inherited blood disorder with severe consequences, including disability and mortality, making it a significant public health concern. Therefore, there is an urgent need for precise diagnostic technologies. We introduce two innovative diagnostic techniques for thalassemia, SNPscan and CNVplex, designed to enhance molecular diagnostics of thalassemia.

DITTO: A Visual Digital Twin for Interventions and Temporal Treatment Outcomes in Head and Neck Cancer.

Digital twin models are of high interest to Head and Neck Cancer (HNC) oncologists, who have to navigate a series of complex treatment decisions that weigh the efficacy of tumor control against toxicity and mortality risks. Evaluating individual risk profiles necessitates a deeper understanding of the interplay between different factors such as patient health, spatial tumor location and spread, and risk of subsequent toxicities that can not be adequately captured through simple heuristics. To support clinicians in better understanding tradeoffs when deciding on treatment courses, we developed DITTO, a digital-twin and visual computing system that allows clinicians to analyze detailed risk profiles for each patient, and decide on a treatment plan.

Corrigendum to "Cloning and functional analysis of 1-deoxy-D-xylulose-5-phosphate synthase (DXS) in Santalum album L" [Gene 851 (2023) 146762].

There are typographical errors with the pictures and tables in the original text, and these should be corrected in this corrigendum. The authors state that these corrections do not affect the methods, results, or conclusions of the original text.

Predictive performance of [F]F-fibroblast activation protein inhibitor (FAPI)-42 positron emission tomography/computed tomography (PET/CT) in evaluating response of recurrent or metastatic gastrointestinal stromal tumors: complementary or alternative to [F]fluorodeoxyglucose (FDG) PET/CT?

Background: Accurately and promptly predicting the response of gastrointestinal stromal tumors (GISTs) to targeted therapy is essential for optimizing treatment strategies. However, some fractions of recurrent or metastatic GISTs present as non-FDG-avid lesions, limiting the value of [F]fluorodeoxyglucose positron emission tomography/computed tomography ([F]FDG PET/CT) in treatment evaluation. This study evaluated the efficacy of [F]F-fibroblast activation protein inhibitor (FAPI)-42 [F]FAPI-42) PET/CT for assessing the treatment response in recurrent or metastatic GISTs, in comparison to [F]FDG PET/CT and explores a model integrating PET/CT imaging and clinical parameters to optimize the clinical use of these diagnostic tools.

Clinical value of prognostic nutritional index combined with C-reactive protein and albumin in early prediction of anastomotic leakage after radical gastric cancer surgery.

Objective: To evaluate the predictive value of the Prognostic Nutritional Index (PNI) combined with C-reactive protein (CRP) and albumin (ALB) for anastomotic leakage following radical gastric cancer surgery.

Methods: A retrospective case-control study was conducted with 275 gastric cancer patients at the Second People's Hospital of Lanzhou City from September 2019 to October 2022. Patients were categorized into an anastomotic leakage group (n=31) or a non-leakage group.

Quaternization-based graft modification of straw fibers for conditioning the sludge dewatering performance.

Extracellular polymeric substances (EPS) are a critical influencing factor in sludge dewatering. Disrupting such EPS contributes to the release of bound water in sludge, enhancing the sludge dewatering performance. In This study, quaternized straw fibers that are destructive to the EPS structure and components in active sludge were prepared useing heterogeneous free radical graft polymerization.