1498 papers
This study retrospectively analyzed nine Nemaline Myopathy patients using whole-exome sequencing and bioinformatics to identify pathogenic variants in *TPM3*, *NEB*, and *ACTA1* genes, demonstrating how thermodynamic stability analysis of *NEB* missense variants can enhance diagnosis, prognosis, and genetic counseling for this genetically heterogeneous disorder.
By leveraging long-read sequencing and the human pangenome, this study demonstrates that Z-DNA-forming sequences are highly constrained, enriched in previously unresolved repetitive regions, and act as significant drivers of genomic instability through an excess of small insertions, deletions, and complex structural variants.
By utilizing cryofixation to preserve overwintering honey bee colonies in a near-native state, this study reveals that the multi-scale distribution of *Varroa destructor* is structured by nested spatial filters ranging from colony-level zones and frame positions to specific abdominal attachment sites on individual bees.
This study demonstrates that classical machine learning models trained on matched gene sets consistently match or outperform scGPT-based pipelines in both accuracy and statistical calibration for cell-type annotation across six large-scale single-cell atlases, challenging the assumed superiority of single-cell large language models without rigorous matched baselines.
This longitudinal study of kindergarten beginners reveals that the transition to school is associated with increased infection burden and a delayed restructuring of the gut microbiome, characterized by a shift toward Proteobacteria dominance and the depletion of *Bacteroides fragilis*, which correlates with higher symptom severity.
This study reveals that DHCR24 deficiency accelerates endothelial senescence by disrupting the SPHK2/SPNS2-S1P axis, which reduces intracellular sphingosine-1-phosphate levels and impairs nitric oxide production, thereby establishing a critical metabolic link between DHCR24 and vascular aging.
A 12-week French Contrast Training program was found to be more effective than traditional resistance training in enhancing lower-limb explosive performance metrics, including jump height, reactive strength, sprint speed, and peak force, among male collegiate basketball players.
This study utilizes synchronized proteomic and phosphoproteomic profiling of APP/PS1/MAPT mice to demonstrate that the retina exhibits earlier and broader Alzheimer's-related molecular alterations than the hippocampus, revealing distinct tissue-specific pathways and shared dysregulated molecules that support the retina as a noninvasive window into early brain pathology.
This study reveals that the periodic formation of the vaginal closure membrane in guinea pigs is a hormone-regulated tissue remodeling process driven by a unique population of pluripotent stem cells residing in a hairless epidermal transition zone at the vaginal orifice.
This study characterizes a novel de novo DNM1L mutation (p.Arg365Gly) in a pediatric patient with epileptic encephalopathy, demonstrating that the variant disrupts DRP1 oligomerization, leading to defective mitochondrial fission, widespread neurodegeneration, and refractory seizures.