Genetics

Perspectives from machine learning and multi-omics to decoding the effects of VDAC2 malignant subsets on tumor evolution.

VDAC2's known role in cancer and immune regulation via enhancing the CD8+ T cell-mediated killing, and it is worth systematically digging out the role of VDAC2 in pan-cancer based on this research. Bulk RNA sequencing, single-cell RNA sequencing, and spatial transcriptomic analyses were utilized to explore the role of VDAC2 from multiple perspectives in pan-cancers. RT-PCR, cell co-culture, CCK-8 ...

Rapid and noninvasive artificial intelligence-assisted diagnostic method for oral squamous cell carcinoma.

Oral squamous cell carcinoma (OSCC) remains the most common head and neck malignancy, for which early detection is critical yet challenging with current invasive methods. This study aimed to establish a comprehensive diagnostic framework for OSCC by integrating proton transfer reaction-time-of-flight mass spectrometry (PTR-TOF-MS) breath analysis and metagenomic sequencing with artificial intellig...

Single-Cell Sequencing and Transcriptomic Sequencing Exploration of the Mechanisms Governing Lactylation in Mitochondrial Diseases.

Mitochondrial diseases (MDs) consist of a heterogeneous spectrum of disorders resulting from mutations in either nuclear or mitochondrial DNA, disrupt...

Multi-Omics Analysis for Identifying Glial Dysfunction-Associated Genes as Therapeutic Targets and Drug Candidates in Alzheimer's Disease.

Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline, amyloid-β plaques, and neurofibrillary tangle...

Closing the Gap in Autism Genetics: Population-Specific Variants and the Imperative for Global Inclusion.

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental condition with an exceptionally complex and heterogeneous genetic architecture...

Emerging frontiers in cervical cancer diagnostics: Recent innovations in biosensors for HPV detection.

Cervical cancer (CC) is recognized as a significant health concern impacting females worldwide. The pathogenicity of CC is associated with human papil...

Deep learning model for predicting mRNA half-life based on 3'UTR sequences.

mRNA stability, quantified by half-life, is central to gene expression homeostasis and post-transcriptional regulation. Predicting mRNA half-life from...

Artificial Intelligence in Phenylketonuria: Bridging Conventional Gaps in Diagnosis and Treatment- A Systematic Review.

INTRODUCTION: Phenylketonuria (PKU) is an autosomal recessive condition of phenylalanine metabolism, characterized by abnormally high phenylalanine co...

Revisiting the NETs-CYBB-p38 MAPK axis in bronchiectasis: The underlying oxidative injury mechanism.

BACKGROUND: Bronchiectasis is a chronic neutrophilic respiratory disease frequently complicated by Pseudomonas aeruginosa (P. aeruginosa) infection. N...

AI-Guided 4D Printing of Carnivorous Plants-Inspired Microneedles for Accelerated Wound Healing.

Artificial intelligence (AI) integrated with bioinspired design enables the development of materials that adapt and dynamically respond to biological ...

Characterising oral microbial signatures for periodontal disease in the NHANES population.

OBJECTIVE: This study aims to characterise the relationship between the oral microbiota and periodontal disease (PD) by leveraging the latest and larg...

Polygenic and polysocial risk scores in post-type 2 diabetes dementia: Risk stratification and predictive modeling in the UK Biobank cohort.

BackgroundDementia is a common complication of type 2 diabetes mellitus (T2DM), influenced by both genetic susceptibility and social disadvantages. Wh...

Neoantigen Targeting as a Novel Approach for Therapy-Resistant Tumors.

Neoantigens have emerged as central targets in the development of individualized cancer vaccines, as they are recognized by the immune system as forei...

Identification of rheumatoid arthritis manganese metabolism-related diagnostic biomarkers through bulk and single-cell RNA sequencing analysis.

BACKGROUND: Rheumatoid arthritis (RA) is a chronic autoimmune disorder characterized primarily by synovial inflammation, often resulting in progressiv...

Identification of biomarkers associated with endoplasmic reticulum stress-related cell death in osteoporosis based on bulk and single-cell transcriptomic analyses and experimental validation.

Osteoporosis (OP) is a metabolic bone disease characterized by low bone mineral density (BMD), and its pathogenesis involves endoplasmic reticulum (ER...

Rewiring the cardiovascular epigenome: the multi-target strategy of traditional Chinese medicine.

Epigenetic mechanisms, including DNA methylation, histone modifications, and non-coding RNAs (ncRNAs), are fundamentally involved in the initiation an...

IGSF9 drives malignant transformation and predicts early-stage lung adenocarcinoma in integrated transcriptomic analyses.

PURPOSE: Lung adenocarcinoma (LUAD), the most common subtype of non-small cell lung cancer (NSCLC), often presents with mild or absent symptoms in its...

Ultrasensitive electrochemical detection of clinically relevant genetic mutations via nanoparticle surface localized amplification and machine learning.

Genetic mutation detection is crucial for early disease diagnosis, prognosis assessment, and the implementation of precision medicine, as it enables t...

HOX code-based stratification reveals RUNX1T1-HDAC reprogramming as a targetable driver of lineage plasticity across cancers.

Cancer remains a leading cause of death worldwide, with lineage plasticity emerging as a hallmark that drives therapy resistance and tumor progression...

Bridging the Scales via Personalized Cellular Modeling and Deep Phenotyping in Schizophrenia.

IMPORTANCE: While growing evidence implicates synaptic dysfunction as a key pathophysiological mechanism in cognitive impairments in schizophrenia (SC...