Genetics

rs57494551 increases CXCR5 expression and IgM+ CXCR5+ B-cell infiltration in the portal area of primary biliary cholangitis.

BACKGROUND: Primary biliary cholangitis (PBC) is a chronic, progressive, cholestatic liver disease caused by autoimmune reactions. A previous international meta-analysis of a genome-wide association study (GWAS) reported a robust association of the human chr.11q23.3 locus including C-X-C motif chemokine receptor 5 (CXCR5) with susceptibility to PBC. However, the molecular mechanism by which CXCR5 ...

The diagnostic value of the circadian rhythm gene KLF10 in anxiety-depressive disorders and its neuroimmune regulatory mechanisms.

BACKGROUND: Anxiety-depressive disorder (ADD) is one of the important subtypes of depression, which has been shown to be closely related to neuroimmune abnormalities. Currently, specific biomarkers have not been identified as diagnostic, differential, and therapeutic targets. This study aimed to explore the molecular mechanisms and diagnostic biomarkers of ADD and elucidate its association with ne...

EvoSNR-Prom: Predicting promoters at single-nucleotide resolution with label-aware transfer learning of the pretrained EVO model.

The precise identification of promoters is crucial for understanding gene regulation. Deep learning methods have achieved considerable success in prom...

SIMLINK Enables Accurate Variant Pathogenicity Prediction through Modeling the Gene-Variant-Feature Association Structure.

MOTIVATION: Predicting variant pathogenicity is crucial for clinical genetics. Existing approaches face two primary limitations. First, biologically, ...

DUSP9 Regulates Hepatoblastoma Progression With Implications for Diagnosis and Targeted Therapy.

This study investigated the mechanistic role of DUSP9 in hepatoblastoma (HB) development and progression to provide new insights into the diagnosis an...

A blood-based test for detection of advanced adenomas and colorectal cancer (DENEB): a multicentre diagnostic accuracy study.

BACKGROUND: Colorectal cancer is the third most common and second deadliest cancer in the USA, but cases and deaths are preventable through appropriat...

Prevalence and chronology of colibactin-associated mutational processes and their microbiome spectra in Japanese colorectal cancer.

The incidence of colorectal cancer (CRC) has risen in recent decades, with a disproportionate increase observed among younger individuals in Japan and...

[Advance in the application of molecular ruler-based RNA 3D dynamic analysis for the interpretation of variants of uncertain significance].

Functional interpretation of genetic variants is a core issue in precision medicine. A large number of "variants of uncertain significance" (VUS) have...

Adaptive Electrochemical Aptamer Sensing across Biofluid-Relevant pH Ranges via a Dual-Stage Machine Learning Framework.

Reliable electrochemical sensing can be hindered by environmental variability such as pH fluctuations, ionic strength, and nonspecific adsorption, whi...

Apolipoprotein M: A liver-derived lipid-binding protein protects against heart failure with preserved ejection fraction by inhibiting TGF-β signaling.

BACKGROUND: Visceral and hepatic adiposity and associated inflammation are recognized as prominent features of heart failure (HF) with preserved eject...

Transforming Cancer Treatment: Integrative Strategies Targeting the Tumor Microenvironment through Biological Innovation and Artificial Intelligence.

Cancer is no longer viewed solely as a consequence of tumor-intrinsic genetic alterations but rather as a disease sustained by a complex and evolving ...

Precision periodontology in clinical practice: bridging omics and clinical decision-making.

BACKGROUND: Precision periodontology integrates molecular diagnostics, genomics, and advanced imaging into clinical decision-making. Despite major adv...

DNAJC12 p.Asp44Gly associated with mild hyperphenylalaninemia and migraine-like headaches: Structural and deep learning analyses.

OBJECTIVE: DNAJC12 encodes a J-domain co-chaperone involved in the function of aromatic amino acid hydroxylases, and its deficiency is associated with...

From linear models to deep learning: statistical advances in genomic selection for animal breeding.

Genomic selection (GS) has revolutionized animal breeding by accelerating genetic gain through genome-wide marker data. As genotyping technologies adv...

Rational Molecular Design to Improve Digital Polymer Readout in Aerolysin-Based Nanopore Sequencing.

Nanopore sequencing is a promising method for decoding synthetic digital polymers, but translocation signals are often complex. This study examines th...

Surface-enhanced Raman scattering for the diagnosis of respiratory viruses.

Surface-enhanced Raman scattering (SERS) has become a promising tool for rapid and sensitive respiratory pathogen detection. However, relevant reviews...

Accurate and noninvasive prostate cancer detection using plasma-derived extracellular vesicle RNA.

Prostate cancer (PCa) is the most commonly diagnosed noncutaneous malignancy in men and a leading cause of cancer-related death worldwide. Its clinica...

PlantCAD2: A DNA foundation model for interpreting genomes across flowering plants.

Flowering plants (angiosperms) exhibit extraordinary species diversity, ∼200-fold variation in genome size, and relatively compact coding regions, pre...

scXpand: Pan-cancer detection of T cell clonal expansion from single-cell RNA sequencing without paired single-cell TCR sequencing.

Advances in single-cell sequencing have enabled detailed characterization of T cell clonal dynamics in cancer. However, analyses aiming to link the tr...

Genome-Wide Association, Polygenic Risk Scores, and Machine Learning for Chronic Post-Surgical Pain Risk Stratification: A UK Biobank Study.

Chronic post-surgical pain is a prevalent and debilitating complication following surgery, representing a clinical challenge. Despite the established ...