Genetics

Vaginal drug delivery for precision therapy in polyendocrine metabolic ovarian syndrome: emerging technologies, translational challenges and future perspectives.

INTRODUCTION: Polyendocrine Metabolic Ovarian Syndrome (PMOS) is an endocrine disorder characterized by metabolic dysfunction, hormonal imbalance, inflammation, and clinical manifestations. Current treatments, systemic drugs, may provide limited benefits because of adverse effects, variable efficacy, and poor adherence, highlighting the need for personalized therapeutic strategies. Vaginal adminis...

Advances in the emerging field of epi-informatics in drug discovery: roads taken and future prospects.

INTRODUCTION: Epigenetic drug discovery remains a promising drug discovery strategy that has long been driven by advances in computational approaches. The subfield of epi-informatics, established more than a decade ago, continues to evolve rapidly as emerging machine learning methodologies reshape and expand its applications. AREAS COVERED: The authors provide an updated overview of bioinformatics...

Spatial synaptic pruning mechanism of NAC microglia in differential regulation of PTSD- and depression-like behaviors.

BACKGROUND AND AIMS: Post-traumatic stress disorder (PTSD) comorbid with depression is a prevalent, treatment-refractory clinical syndrome. Emerging e...

Prognostic Models and Predictors of Recurrence in Resectable Colorectal Liver Metastases: A Systematic Review and Meta-analysis.

We systematically reviewed prognostic models for recurrence after curative-intent locoregional treatment of colorectal liver metastases (CRLM) and qua...

Integrative Analysis of Nucleotide Metabolism-Related Genes Reveals a Diagnostic Signature and In Silico Functional Disruption in Hypertrophic Scarring.

Hypertrophic scar (HTS) is a fibrotic skin disease characterized by excessive extracellular matrix accumulation and chronic inflammation. This study a...

Deep mutational scanning of CYP2C9, CYP2C19, and NUDT15 shows that pharmacogene variant interpretation requires assay-specific functional data.

Pharmacogene missense variants can disrupt protein stability, catalytic competence, or substrate handling through distinct mechanisms. General-purpose...

Integrative single-cell and spatial transcriptomic analysis reveals 4-HNE-related stromal remodeling in lung adenocarcinoma.

BACKGROUND: 4-HNE is a lipid peroxidation product involved in oxidative stress, tumor microenvironment remodeling, and tumor progression. This study a...

aiDIVA - hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models.

Genome sequencing enables accurate detection of genetic variants and is transforming rare disease diagnostics. While data generation is scalable, prio...

Sodium Danshensu Attenuates Renal Ischemia-Reperfusion Injury by Suppressing STAT3-Driven Cytokine Signaling and Apoptosis.

OBJECTIVE: To evaluate the renoprotective effects and underlying molecular mechanisms of sodium danshensu (SDSS) in renal ischemia-reperfusion (RIR) i...

A Molecular Perceptron Based on DNA Circuit.

Activation functions are critical to artificial neural networks; however, their implementation in DNA circuitry has remained a long-standing challenge...

ASPIRE: Accurate alternative splicing prediction from limited RNA sequencing data and a minimal gene set.

Alternative splicing is a fundamental biological mechanism that increases protein diversity and regulates critical cellular processes across eukaryote...

Lactylation-related immune-metabolic dysregulation defines prognostic and therapeutic stratification in lung adenocarcinoma.

BACKGROUND: Lactylation links lactate metabolism with inflammatory signaling and immune regulation in tumors. However, its cellular distribution and t...

Antibiotic Resistance in Helicobacter pylori: Pathogenic Mechanisms and Eradication Barriers.

Antibiotic resistance in Helicobacter pylori is an important factor in the ineffectiveness of eradication regimens. The rate of resistance is not cons...

Machine learning-driven drug repurposing and computational validation for Nipah virus.

The recurring Nipah virus outbreaks and the lack of effective antiviral therapies, emphasize the urgent need for effective therapeutic interventions. ...

Machine Learning approaches for the detection of disease-causing variants in whole-genome data need to address the expression of functional genes.

Gene-dosage combinations have been recognised as leading factors of disease. Given that those combinations may include dozens of genes, it is hypothes...

Exploration of acetylation-related biomarkers in osteoarthritis through bioinformatics analysis.

Osteoarthritis (OA) is characterized as a chronic degenerative disorder affecting the joints. A growing body of evidence indicates that acetylation ma...

Virtual single-cell perturbation and genetic causal inference reveal CSF1R-dependent immunometabolic communication in iron metabolism-associated osteoarthritis.

Iron dysregulation has emerged as a contributor to osteoarthritis (OA), yet the cell-communication mechanisms connecting iron-related genetic signals ...

Beyond predictive performance: Interpretability challenges and feature importance bias in XGBoost-based readmission models.

Song et al. report a machine-learning framework based on the eXtreme Gradient Boosting (XGBoost) algorithm for predicting 1-year unplanned readmission...

Recent trends in nucleic acid research in plants for future food security.

The agricultural production system is facing unprecedented pressure of climate change, human population, pressure on renewable and non-renewable resou...

Data-driven interpretation of mixed-culture polyhydroxyalkanoate accumulation using dual-target machine learning framework.

Polyhydroxyalkanoate (PHA) accumulation in mixed-culture feast-famine systems reflects nonlinear interactions among nutrient availability, biomass ret...