Genetics

Integrating Molecular Pathology, Tumor Microenvironment, and Novel Therapies to Overcome Resistance in Glioblastoma.

Glioblastoma multiforme (GBM) represents the most aggressive primary brain tumor in adults, characterized by significant heterogeneity, rapid progression, and resistance to existing therapies. Conventional therapies provide minimal survival advantages due to recurrence influenced by glioma stem-like cells (GSCs), adaptive signaling pathways, and a highly immunosuppressive tumor microenvironment (T...

An MRI-based radiomics model for precision subtyping of hereditary spastic paraplegia: discriminating SPG4 from SPG5.

BACKGROUND: Differentiating spastic paraplegia type 4 (SPG4) from type 5 (SPG5) is clinically relevant with differing therapeutic strategies, yet genetic testing remains limited necessitate alternative approaches. This study aimed to develop and validate an interpretable radiomics model based on spinal cord MRI for distinguishing SPG4 from SPG5. METHODS: In this prospective study, SPG4 (N = 40) an...

Exploring the gut-lung axis in post-liver transplant acute lung injury: A multi-omics approach.

Acute lung injury (ALI) is a significant post-operative complication of liver transplant (LT), with mounting evidence suggesting a role for the gut-lu...

Machine learning-driven optimization of specific, compact, and efficient base editors via single-round diversification.

Base editing shows great potential in research and clinical applications. Current iterations of the deaminases used to create precise single-nucleotid...

Deep Learning Predicts Mutations and Outcomes in Gastrointestinal Stromal Tumors from Whole-Slide Images.

Gastrointestinal stromal tumor (GIST) is the most common gastrointestinal mesenchymal tumor, driven by tyrosine-protein kinase (KIT) and platelet-deri...

Predicting 5-Year Mortality in Non-Small-Cell Lung Cancer Using the Korean Central Cancer Registry: Model Development and Validation Study.

BACKGROUND: Non-small-cell lung cancer (NSCLC) is one of the most common cancers and a leading cause of cancer-related mortality, making prognostic pr...

A quarter-century of progress: innovations in lipid medicine that transformed cardiovascular prevention.

This TimeCapsule reviews the major transformations in lipid metabolism and cardiovascular disease prevention during the first quarter of the 21st cent...

Digital Hydrogel Fluorescent-Enhancing Microspheres via CRISPR/Cas12a for Amplification-Free Relative Quantification of Nucleic Acids.

CRISPR/Cas systems hold great promise for molecular diagnostics, but their amplification-free applications are hampered by weak signals and poor quant...

Navigating polymorph generation and distilled-potential development via entropy-symmetry landscapes for metal plasticity mechanisms.

Artificial intelligence has advanced crystal design, yet unifying crystal structure prediction with thermodynamics-driven structure-property modelling...

Integrative machine learning and multi-omics analysis reveals ATIC as a promoter of hepatocellular carcinoma progression.

Autophagy plays a non-negligible role in the progression and immune regulation of hepatocellular carcinoma (HCC). An integrated analysis of the autoph...

[Role and limitations of genome-wide DNA methylation profiling in the diagnosis of brain tumors].

Genome-wide DNA methylation profiling, a high-throughput epigenomic technology, systematically examines the methylation status of CpG sites across the...

Integrative machine learning and gene regulatory network analysis identifies novel genes for leafy head formation in Brassica rapa and B. oleracea.

Leafy head formation is a crucial developmental process in Brassica crops. Here, an integrative approach combining machine learning and gene regulator...

Integrative single-cell and spatial transcriptomics analysis reveals a baicalein-responsive 10-gene signature for non-small cell lung cancer.

BACKGROUND: Non‑small cell lung cancer (NSCLC) remains a leading cause of cancer‑related mortality worldwide. Baicalein, a natural flavonoid, has show...

First-trimester multi-modal cell-free DNA analysis for prediction of preterm and term preeclampsia.

BACKGROUND: Preeclampsia, which is a leading cause of maternal and perinatal mortality and morbidity, represents a biologically heterogeneous syndrome...

Machine learning models predict the immunotherapy response in tumors on the basis of DNA methylation.

BACKGROUND: The epigenetic control of immune responses plays a crucial role in the development and progression of cancer. The need to identify biomark...

Integrated CT-PET radiogenomics and graph-based multi-task learning for preoperative prediction of key glioma molecular markers.

BACKGROUND: The clinical management of glioma is increasingly dependent on the tumor's molecular profile, particularly the mutation status of Isocitra...

Machine learning methods identified cellular senescence-related hub molecules in sepsis-induced acute respiratory distress syndrome (ARDS) and their upstream regulatory network.

BACKGROUND: Sepsis-induced ARDS demonstrated greater severity and higher mortality compared to ARDS triggered by other factors. In this article, we co...

Development and validation of pathomics signature for predicting prognosis of advanced high-grade serous ovarian carcinoma patients after platinum-based chemotherapy.

In patients with advanced high-grade serous ovarian carcinoma (HGSOC), the standard treatment typically involves platinum-based chemotherapy after deb...

G.AI: an AI-driven platform for phenotype standardization, variant interpretation and structured clinical reporting in rare disease genomic diagnosis.

BACKGROUND: The diagnosis of rare diseases increasingly relies on the interpretation of high-throughput next-generation sequencing (NGS) data. As sequ...

Integrated multi-omics and experimental validation reveal CSK and FBLN1 as key targets of stanozolol in accelerating atherosclerosis.

BACKGROUND: Stanozolol, a synthetic anabolic androgenic steroid (AAS) widely abused to enhance performance, has poorly defined toxicological mechanism...