BiU-Net: A Biologically Informed U-Net for Genotype Imputation.

Missing genotypes reduce statistical power and hinder genome-wide association studies. While reference-based methods are popular, they struggle in complex regions and under population mismatch. Existing reference-free deep learning models show promise in addressing this issue but often fail to impute rare variants in small datasets.

Biological Characterization of Alternative Oxidase in Cryptosporidium Mitosome.

Cryptosporidium parvum is an important enteric parasite that causes diarrhea in humans and animals. There are currently no effective drugs to treat cryptosporidiosis. C.

Methylation detection in percutaneous lung biopsy preservation fluid: a new strategy to improve lung cancer diagnosis.

Introduction: Lung cancer is a significant global health threat, particularly in China, where it has high incidence and mortality rates. Current diagnostic methods face challenges, especially in obtaining sufficient tissue samples for accurate diagnosis. This study aimed to develop a new strategy using percutaneous lung biopsy preservation fluid for gene methylation detection to improve diagnostic accuracy.

Effect of Interactions Between Endothelial Lipase Gene Polymorphisms and Traditional Cardiovascular Risk Factors on Coronary Heart Disease Susceptibility.

Background: Coronary heart disease (CHD) arises from a complex interplay of genetic and environmental factors. This study examines the influence of gene polymorphisms ( and ) and their interactions with traditional cardiovascular risk factors on CHD susceptibility.

Methods: This retrospective case-control study enrolled 900 CHD patients and 900 control subjects.

Relationship between cognitive functions and serum neurotrophic factor levels in long-term hospitalized male patients with schizophrenia.

Objective: This study explored the changes in serum neurotrophic factor levels, the status of cognitive function, event-related potential P300, and the relationships between serum neurotrophic factor levels and cognitive functions, as well as event-related potential P300 in male schizophrenia patients with long-term hospitalization.

Methods: A total of 82 male schizophrenia patients with long-term hospitalization and 52 healthy controls were recruited. Cognitive functions were evaluated in all participants, including verbal fluency function, attention function, executive function, and spatial function.

Network Pharmacology, Molecular Docking, and In vitro Validation to Explore the Key Phytochemicals of Da-cheng-qi Decoction Treating Intracerebral Hemorrhage.

Background: The development of secondary brain injury following intracerebral hemorrhage (ICH) involves multiple pathophysiological processes. Da-cheng-qi decoction (DCQD) has a long history of effectiveness in treating ICH and exhibits a variety of pharmacological effects. However, the phytochemicals and targets of DCQD targeting the pathophysiological processes of ICH still require further elucidation.

Liver diseases, transaminases, and hepatobiliary-pancreatic cancer risk: a cohort and Mendelian randomisation study using data from UK Biobank.

Objective: Liver diseases are established risk factors for hepatobiliary and pancreatic cancers. This study explores the relationship between liver disease and hepatobiliary-pancreatic cancers, focusing on transaminase levels and genetic susceptibility.

Methods: We conducted a large cohort study using data from 449 815 participants in the UK Biobank.

Role of meningeal lymphatic vessels in brain homeostasis.

Meningeal lymphatic vessels (MLVs) form an important bridging structure between the brain and periphery, which drains cerebral metabolites in cerebrospinal fluid (CSF) and brain antigens to deep cervical lymph nodes (dCLNs), to maintain brain homeostasis. Increasing evidence reveals the importance of MLVs in brain ageing and various central nervous system (CNS) diseases, such as Alzheimer's disease (AD), Parkinson's disease (PD), traumatic brain injury (TBI), and multiple sclerosis (MS). Advances in research techniques have provided detailed insights into the structure and functions of MLVs, highlighting the therapeutic potential of targeting MLVs for related diseases.

Echs1-mediated histone crotonylation facilitates zygotic genome activation and expression of repetitive elements in early mammalian embryos.

Histone crotonylation, a conserved post-translational histone modification, plays a crucial role in transcriptional regulation. However, its function in early embryonic development remains largely unexplored. Here, we perform genome-wide mapping of histone crotonylation in mouse and human early embryos.

Decoding Cellular Communication Networks and Signaling Pathways in Bone, Skeletal Muscle, and Bone-Muscle Crosstalk Through Spatial Transcriptomics.

Bone and skeletal muscle are essential components of the musculoskeletal system, enabling movement, load-bearing, and systemic regulation. These tissues communicate through dynamic bone-muscle crosstalk mediated by cytokines, growth factors, and extracellular matrix (ECM) proteins. The spatial organization of these mediators is critical to maintaining tissue integrity, and disruptions contribute to diseases such as osteoporosis, sarcopenia, and metabolic syndrome.

Cataract-causing variant G119R impaired the oligomeric homeostasis of βB2-crystallin with lower structural stability and more sensitivity to the environmental stress.

Congenital cataract is a significant cause of blindness in children, primarily associated with genetic factors. βB2-crystallin, the principal structural protein of the lens, is essential for preserving lens transparency and stabilizing the intracellular environment. Numerous mutations in βB2-crystallin are identified as contributors to cataract; however, the underlying pathogenic mechanisms remain unclear.

Repurposing Acebutolol for Osteoporosis Treatment: Insights From Multi-Omics and Multi-Modal Data Analysis.

Osteoporosis is a common metabolic bone disease with aging, characterized by low bone mineral density (BMD) and higher fragility fracture risk. Although current pharmacological interventions provide therapeutic benefits, long-term use is limited by side effects and comorbidities. In this study, we employed driver signaling network identification (DSNI) and drug functional networks (DFN) to identify repurposable drugs from the Library of Integrated Network-Based Cellular Signatures.

Melatonin and spermidine protect early mouse embryos from ethylparaben toxicity by restoring histone modifications and subcellular structures.

Ethylparaben (EtP), a widely used preservative in food and cosmetics, has raised increasing concerns in the field of reproductive toxicology due to its potential adverse effects on human health. In this study, we show that EtP exposure induces developmental arrest at the 2-cell stage in mouse embryos. This arrest coincides with elevated reactive oxygen species levels, mitochondrial dysfunction, DNA damage, and apoptosis.

Evidential Deep Learning for Open-Set Active Domain Adaptation.

Open-set domain adaptation (OSDA) seeks to transfer knowledge from a labeled source domain to an unlabeled target domain containing novel classes. Traditional OSDA methods rarely account for the uncertainty in predictions and typically require additional training overhead. Evidential deep learning (EDL) transforms the model's predictions from point estimates to distributions over the probability simplex by replacing the standard softmax output of classification neural networks with Dirichlet distributions.

Electroacupuncture exerts antipruritic and anti-inflammatory effects on atopic dermatitis by activating CB2 receptor.

Background: The therapeutic benefits of electroacupuncture (EA) for atopic dermatitis (AD) are recognized, yet the underlying mechanisms remain elusive. Given the side effects associated with clinical CB2 receptor (CB2R) agonists used in AD treatment, our study seeks to elucidate EA's role in modulating CB2R in lesional skin and its impact on antipruritic and anti-inflammatory responses using an AD mouse model.

Methods: The AD model was induced with MC903, and EA was applied to'Qu chi'(LI11) and'He gu'(LI4) acupoints, corresponding to the neck dermatome.

Purification, identification, and synthesis of novel antioxidant peptides from peanut meal and their protective effects against H₂O₂-induced oxidative damage in HepG2 cells.

Peanut meal, a by-product of peanut oil extraction, is rich in protein but remains underutilized. Previous studies have indicated that peanut protein hydrolysate (PPH) exhibits strong antioxidant activity, but the antioxidant mechanisms and functional effects of PPH remain unclear. Therefore, this study aimed to purify, identify, and synthesize novel antioxidant peptides from PPH and evaluate their protective effects against oxidative damage in HepG2 cells.

Multi-ancestry whole genome sequencing analysis of lean body mass.

Background: Lean body mass is a crucial physiological component of body composition. Although lean body mass has a high heritability, studies evaluating the genetic determinants of lean mass (LM) have to date been limited largely to genome-wide association studies (GWAS) and common variants. Using whole genome sequencing (WGS)-based studies, we aimed to discover novel genetic variants associated with LM in population-based cohorts with multiple ancestries.

LC-MS/MS-based metabolomic of pink Auricularia cornea grown on Lycium barbarum sawdust substrate.

Driven by the need for sustainable agriculture, using Lycium barbarum (goji) sawdust as a substrate for mushroom cultivation increases productivity while reducing environmental impact. This study evaluates the effects of different proportions of goji sawdust on the growth, yield, and metabolic profiles of pink A. cornea.

Anlotinib for the treatment of recurrent and refractory hemangioblastomas: a case report and review of literature.

Hemangioblastomas (HBs) are rare, highly vascular tumors that present significant treatment challenges, especially in cases of multiple recurrences. Here we present our experience treating one patient with recurrent and refractory HBs, aiming to provide preliminary data on the use of anlotinib in treating this disease. An 18-year-old woman with recurrent and refractory HBs, treated at the Henan Provincial Hospital of Traditional Chinese Medicine, achieved disease remission through oral anlotinib treatment after recurrence.

Cancer-Associated Fibroblasts Foster a High-Lactate Microenvironment to Drive Perineural Invasion in Pancreatic Cancer.

Unlabelled: Perineural invasion (PNI) is a pivotal prognostic factor in pancreatic cancer, associated with aggressive tumor behavior and adverse patient outcomes. The recognized clinical impact of PNI highlights the need to better understand the molecular mechanisms underlying PNI-induced phenotypes. In this study, we isolated PNI-associated cancer-associated fibroblasts (pCAF), which demonstrated a markedly enhanced capacity to promote neural invasion in pancreatic cancer compared with non-PNI-associated CAFs.

Oxygen Vacancy Formation Energy Determines the Phase-Activity Relationship of MnO Laccase Nanozymes.

Although manganese dioxide (MnO) has been explored as a powerful laccase nanozyme for pollutant oxidation in wastewater treatment, the phase-activity relationship of multiphase MnO remains ambiguous and controversial. Herein, the experimental studies show that the laccase-like activities and aerobic catalytic oxidation toward tetracycline antibiotics of the six types of MnO are in the following order: β- > λ- > γ- > α- > ε- > δ-MnO. Density functional theory (DFT) calculations revealed that the catalytic activities are inversely proportional to the oxygen vacancy formation energies of the different MnO materials.

Effects of oxidative stress and GDNF on patients with bipolar disorder: a prospective study.

Background: Bipolar disorder (BD) is a common mental disorder characterized by significant cognitive dysfunction, the mechanisms of which remain unclear. Oxidative stress and glial cell line-derived neurotrophic factor (GDNF) influence the pathophysiology of BD. Their specific roles, particularly concerning cognitive function during manic episodes, are unclear.

Electrochemical alkylation of C(sp)-H bonds halogen-atom transfer (XAT) from alkyl iodides.

Here, we present an electrochemical C(sp)-H bond alkylation of unactivated alkyl iodides a halogen-atom transfer (XAT) process under mild conditions. This strategy avoids the drawbacks associated with sacrificing reactive metal anodes in electrochemical direct reduction and demonstrates excellent functional group tolerance.

Mitofusin 1 Drives Preimplantation Development by Enhancing Chromatin Incorporation of Histone H3.3.

Mitofusin 1 (MFN1) plays a crucial role in mitochondrial fusion and oocyte development. However, its function in preimplantation embryonic development and its potential involvement in epigenetic regulation remain poorly understood. In this study, it is shown that MFN1 interacts with PADI6, a key component of the cytoplasmic lattice in oocytes and early embryos.