3821 papers
This study demonstrates that while specific metrics like LOFTEE, pext scores, and NMD analysis can help distinguish pathogenic from benign variants, thousands of known pathogenic ClinVar variants exhibit signs of incomplete loss-of-function, revealing significant limitations in relying solely on automated filtering rules to exclude such variants.
This study demonstrates that activating STAT1 mutations drive CD8 T cell dysfunction through distinct extrinsic and intrinsic mechanisms, where exaggerated type I interferon signaling triggers a pro-apoptotic integrated stress response that overrides classical exhaustion and alters differentiation.
This study integrates bulk RNA-seq, single-cell RNA-seq, and spatial transcriptomics to characterize multicellular dysregulation and spatial heterogeneity in the colorectal cancer microenvironment, identifying a novel eight-gene prognostic signature and elucidating the role of cancer-associated fibroblasts and malignant epithelial cells in shaping an immunosuppressive tumor niche.
This study demonstrates that rapid nasal metabolism of odorants by xenobiotic enzymes fundamentally shapes neural odor representations by generating metabolites that alter response patterns, with inhalation-linked timing serving to distinguish external chemical signals from internally generated ones to support distinct percepts.
The paper introduces PyConv, a novel hybrid Pyramid ViT-ConvFormer architecture with dynamic early stopping that achieves state-of-the-art diagnostic accuracy and significantly faster convergence for Diffuse Large B-Cell Lymphoma subtyping while maintaining clinical interpretability.
TDEP is a deep neural network that leverages protein language model embeddings and graph attention networks to accurately predict transcriptome-wide target perturbation responses from drug-induced profiles, matching the accuracy of structure-based methods while providing detailed gene-level mechanistic insights for target prioritization and drug repurposing.
This study identifies a conserved, continuous lipid–lysosome remodeling axis in microglia that correlates with Alzheimer's disease severity and is spatially localized to plaque-associated niches, establishing a reproducible cross-species framework for understanding microglial metabolic responses in AD.
This study utilizes integrative single-cell RNA sequencing to establish a conserved transcriptional trajectory of acinar-to-ductal metaplasia in both mouse and human pancreatic tumorigenesis, identifying Foxq1 and Onecut2 as key regulators of this early malignant transition.
This study integrates multi-omics analyses and experimental validation to identify CD53 as a microglia-enriched marker of subacute inflammation in spinal cord injury, which is associated with NF-κB signaling but requires further functional investigation to establish causality.
This study utilizes 3D imaging and computational modeling to reveal that physiological wavy arterioles, uniquely present in specific human cortical regions, induce distinct hemodynamic changes that likely serve as adaptive regulators for local brain perfusion and high-order cognitive functions.