Results 201 to 210 of about 143,230 (264)
Endothelial miR‐15a/16‐1 deletion promotes long‐term recovery after traumatic brain injury by restoring SYNE1 expression. Enhanced endothelial SYNE1 preserves vascular integrity, protects white and gray matter, and improves neurological function. The endothelial miR‐15a/16‐1–SYNE1 axis emerges as a key regulator of neurovascular repair and a potential ...
Shun Li +17 more
wiley +1 more source
Understanding Genotype-Phenotype Correlations of Desmoplakin Splice Site Variants. [PDF]
Bolling MC, Vermeer MCSC.
europepmc +1 more source
Dual‐line Genome‐scale CRISPR Screening Enables Robust Target Gene Discovery
A species‐optimized CRISPR platform integrates efficient piggyBac delivery, genome‐scale sgRNA libraries, and parallel screening in two independently engineered Bactrocera dorsalis Cas9 cell lines. Cross‐line consensus analysis filters line‐specific effects, enriches candidates with reproducible in vivo phenotypes, and reveals conserved, species ...
Ziniu Li +9 more
wiley +1 more source
Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients. [PDF]
Abdelfattah AS, Saleh MA.
europepmc +1 more source
This bioinspired acinus‐on‐a‐chip recapitulates VILI pathology, revealing that volutrauma drives P53/NF‐κB pathways while barotrauma triggers mitochondrial‐Wnt dysregulation. A fibrotic transitional cell cluster was identified. Pharmacological interventions targeting these pathways significantly ameliorated injury, establishing a mechanobiological ...
Heng Lu +10 more
wiley +1 more source
Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPK. [PDF]
Doss RM +5 more
europepmc +1 more source
ABSTRACT In the agricultural landscape of most developing countries, the last decade has witnessed the expansion of outsourced agricultural extension services. Private firms and nongovernmental organizations focused on delivering agricultural extension and advisory services to farmers have emerged.
Boris D. Soh Wenda +3 more
wiley +1 more source
UniSplicer: A deep-learning framework for accurate splice-site prediction and splice-altering mutation detection across diverse taxa. [PDF]
Hong C +6 more
europepmc +1 more source
When Biology Meets Medicine: A Perspective on Foundation Models
Artificial intelligence, and foundation models in particular, are transforming life sciences and medicine. This perspective reviews biological and medical foundation models across scales, highlighting key challenges in data availability, model evaluation, and architectural design.
Kunying Niu +3 more
wiley +1 more source
Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study. [PDF]
Liu L, Du H, Wang N, Lv S, Yu C, Deng L.
europepmc +1 more source

