Hemophilia

Role of Ambler Position 104 in Defining Substrate Specificity in the KPC Family of β-Lactamases.

Carbapenem-resistant Gram-negative bacteria pose a critical clinical challenge, largely due to the dissemination of class A Klebsiella pneumoniae carbapenemases (KPCs). Residue 104 in the α3-α4 loop of KPC enzymes forms part of a hydrophobic node influencing active-site architecture and substrate specificity. We systematically evaluated 19 amino acid substitutions at position 104 in KPC-3 to deter...

Machine Learning in HIV Care and Antiretroviral Therapy: Systematic Review.

BACKGROUND: Artificial intelligence (AI) is expanding across various medical fields, with machine learning (ML) being increasingly used to enhance patient management in diagnosis, prevention, and therapeutic care. OBJECTIVE: This study aims to provide an overview of ML applications in HIV care, focusing on real clinical data to improve health care for people living with HIV and on antiretroviral t...

Pleiotropic germline PTEN mutations influence gastrulation through dysregulated AKT activation.

PTEN hamartoma tumor syndrome (PHTS), caused by germline PTEN mutations, exhibits pleiotropic manifestations, including hamartomas, cancers, and neuro...

A Novel Triose Phosphate Isomerase Inhibitor With Dual Trypanosomicidal Activity was Identified Using Artificial Intelligence-Based Virtual Screening.

Chagas disease and leishmaniasis are neglected protozoan diseases recognized by the World Health Organization as major public health problems. These d...

Increasing value in the Veterans Affairs Healthcare System (VA) with precision health: a continuing landmark collaboration with the Department of Energy.

OBJECTIVE: Phase II of MVP-CHAMPION, a federal collaboration between the Veterans Affairs Healthcare System (VA) and the Department of Energy (DoE), l...

Single-Cell Profiling Identifies CLEC5A+ Macrophages as Key Drivers of Thoracic Aortic Aneurysm Via CCL5-Mediated M1 Polarization.

BACKGROUND: Thoracic aortic aneurysm (TAA) is a life-threatening disease with limited therapeutic options, largely due to an incomplete understanding ...

A novel hybrid CCD-ML approach for predicting permeability alterations in carbonate reservoir rocks during waterflooding under scale inhibitor treatment.

ChemScreener: an active learning enabled hit discovery workflow with WDR5 inhibitor case study.

Active deep learning offers a promising approach for hit discovery starting from limited data by iteratively updating and improving models during scre...

Combining cutting edge computational and experimental methods for targeting kras mutations in non-small cell lung cancer.

INTRODUCTION: Historically, KRAS mutations have been notoriously difficult to target despite their status as the most commonly mutated oncogene in the...

Deciphering the molecular network of Trichostatin A in regulating Alzheimer's disease screening of core genes and mechanistic investigation based on multidimensional bioinformatics and molecular simulation.

BACKGROUND: Histone deacetylases (HDACs) regulate neuroprotection; however, Trichostatin A (TSA), an HDAC inhibitor, lacks clear molecular mechanisms ...

ZFP36-ferroptosis axis as a key renal protective pathway in diabetic kidney disease.

Diabetic Kidney Disease (DKD) is strongly related to ferroptosis, an iron-dependent form of programmed cell death characterized by the accumulation of...

NeuroBACE-ML: A reliability-aware screening framework for high-throughput prioritization of potent BACE1 inhibitors.

Beta-site amyloid precursor protein cleaving enzyme 1 (BACE1) is a key enzyme in amyloid-β generation and remains an important target in Alzheimer's d...

Explainable Machine Learning Guided Enhanced Sampling of Protein Conformational Transition in HSP90.

Elucidating the thermodynamics, kinetics, and mechanisms of protein conformational transitions remains a longstanding challenge in molecular dynamics ...

Artificial Intelligence in Haemophilia Care: A Narrative Review of Current Evidence and Future Opportunities.

Artificial intelligence (AI) is increasingly explored in healthcare for its capacity to analyse complex data, support clinical decision-making and ena...

MAISNet: A Multi-Species Integrated Graph Neural Network for Acetylcholinesterase Inhibitor Screening.

MOTIVATION: Global population aging has led to a rapid increase in neurodegenerative disorders such as alzheimer's disease (AD). Although existing dru...

Explainability Methods from Machine Learning Detect Important Drugs' Atoms in Drug-Target Interactions.

Predicting drug-target interactions (DTI) with graph neural networks (GNNs) is hindered by their lack of interpretability. To address this, we benchma...

Deep learning for pediatric synovial recess distension detection in hemophilia: synthetic image augmentation with styleGAN2-ADA.

PURPOSE: Pediatric musculoskeletal ultrasound (MSKUS) datasets are scarce, especially for rare, sex-linked conditions such as hemophilia. Models train...

Structure- and Ligand-Based Discovery of Novel 3-Chymotrypsin-Like Protease Nonpeptidomimetic Hits.

The SARS-CoV-2 3-chymotrypsin-like (3CLpro) protease is a key target for the development of COVID-19 therapeutics. While ensitrelvir and nirmatrelvir ...

AI-assisted transformation of PD-L1 inhibitory peptides into small molecules using amino acid mapping descriptor and activity improvement through structure-based drug design.

We present a novel strategy for the conversion of macrocyclic peptides into small molecules to identify potent and membrane-permeable protein-protein ...

Digital Monitoring of Pre-Exposure Prophylaxis Users Through Electronic Patient-Reported Outcome Measures and Electronic Patient-Reported Experience Measures: Multicenter Prospective Study on Feasibility, Safety, and Predictive Modeling of Digital Engagement.

BACKGROUND: Digital health tools integrating electronic patient-reported outcome and experience measures (ePROMs/ePREMs) enable longitudinal monitorin...