Genetics

Techniques to Detect and Quantify the Bacterial Metalloprotease AprX in Bovine Milk: A Review.

The heat-stable metalloprotease AprX, secreted by psychrotrophic Pseudomonas spp., is a major cause of quality deterioration in dairy products, particularly ultrahigh temperature (UHT) milk. This review synthesizes the evolution and current state of detection and quantification techniques for AprX in bovine milk, covering traditional immunological assays, enzymatic activity measurements, and zymog...

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases.

The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal of the French Ministry of Health and Prevention (Rare ...

Regulatory roles of microRNAs in epigenetic and immune gene networks in psoriasis.

Psoriasis is a chronic, immune-mediated skin disorder characterized by keratinocyte hyperproliferation, impaired differentiation, and sustained inflam...

Multidimensional cfRNA response modeling identifies a 5-gene pair signature for high-robust pulmonary tuberculosis diagnosis.

Lack of non-invasive biomarkers hinders pulmonary tuberculosis (PTB) management. We developed a multidimensional machine learning framework to systema...

Integrating DNA barcoding and machine learning for species identification: Comparative genomics and codon usage bias of chloroplasts in Gentiana sect. Cruciata.

This study integrates chloroplast genome comparison, codon usage analysis, machine learning, and DNA barcoding to elucidate the phylogeny, genetic div...

Gene Specific Pathogenicity Predictor for Chromatin Remodeling BAF Complex-Associated Neurodevelopmental Disorders.

Advancements in whole genome sequencing have increased the number of variants of uncertain significance (VUS) identified in human genomes. This has cr...

Image-based epigenetic profiling with deep learning and high-speed super-resolution microscopy.

Predicting Macrophage Spatial Localization from Single-Cell Transcriptomes to Uncover Disease Mechanisms.

When cells are isolated for single-cell RNA sequencing (scRNA-seq), their positional information is inevitably lost. Here, an algorithm termed MERLIN ...

Integrated Single-Cell and Bulk Transcriptome Analysis Reveals the Prognostic Significance and Immune Regulatory Mechanisms of Sialylation in Hepatocellular Carcinoma.

Liver Hepatocellular Carcinoma (LIHC) is a high-mortality primary liver cancer. Its treatment and prognosis are highly dependent on disease stage and ...

Genetic basis of immune-mediated necrotizing myopathy: A genomic structural equation modeling and AI-driven structural analysis.

BACKGROUND: Immune-mediated necrotizing myopathy (IMNM) constitutes an autoimmune myopathy precipitated by autoantibodies, marked by rapid progression...

Single-nucleus multi-omics dissection of dysregulated trophoblast development and disrupted immune microenvironment in complete hydatidiform moles.

Hydatidiform mole (HM) is driven by aberrant trophoblast proliferation, disrupting embryonic development and leading to pregnancy loss with increased ...

AI-driven forecasting of Vibrio vulnificus in the Southern Baltic Sea using high-resolution data.

Vibrio vulnificus poses a growing public health risk in the brackish Baltic Sea, where rising summer sea temperatures can create optimal conditions fo...

Polysaccharide-functionalized gold, silver, and iron oxide nanoparticles for siRNA delivery: The role of artificial intelligence in design and optimization.

Polysaccharide-functionalized metallic nanoparticles (MFNPs), including gold (Au), silver (Ag), and iron oxide (Fe3O4), have emerged as promising nano...

Exploring the role of phage resistance by using label-free SERS for biochemical profiling of gram-negative pathogen Pseudomonas aeruginosa strains with machine learning approach.

Pseudomonas aeruginosa (P. aeruginosa) is an emerging gram-negative pathogen, accountable for diverse and chronic nosocomial infections, particularly ...

DNAwhisper: An Integrated Deep Learning Pyramidal Framework for Multi-Trait Genomic Prediction and Adaptive Marker Prioritisation.

Genomic selection (GS) is critical for accelerating genetic gain in modern plant breeding. Deep learning approaches offer powerful non-linear represen...

The regional landscape of the human colon culturome in health and cystic fibrosis.

UNLABELLED: Cystic fibrosis (CF) alters gut physiology, yet its impact on microbial communities across colonic regions (ascending, transverse, descend...

Advances in the construction and biological applications of DNA condensates.

Intracellular biomolecular condensates are membraneless liquid droplets formed by liquid-liquid phase separation (LLPS), which play essential roles in...

When AI joins the table: evaluating large language model performance in soft tissue sarcoma tumor board decisions.

OBJECTIVES: Multidisciplinary tumor boards (MDTs) are critical for the personalized management of soft tissue sarcomas (STS), but they are limited by ...

Genetic insights into migraine pathophysiology: COX-2 1195 A>G (rs689466) and COX-2 765 G>C (rs20417) polymorphisms and their clinical implications.

OBJECTIVES: This study aimed to investigate the association of COX-2 gene polymorphisms with key clinical features of migraine, including headache ons...

Machine learning estimation of FVIII pharmacokinetic parameters in Chinese children with severe Hemophilia A.

Hemophilia A is a rare inherited bleeding disorder typically managed with coagulation factor VIII (FVIII) replacement therapy. Designing personalized ...