Toward an animal model of cystic fibrosis: targeted interruption of exon 10 of the cystic fibrosis transmembrane regulator gene in embryonic stem cells. [PDF]
Beverly H. Koller+7 more
openalex +3 more sources
Microglial MS4A4A Protects against Epileptic Seizures in Alzheimer's Disease
This study has unveiled significant new insights into the role of MS4A4A in Alzheimer's disease‐related epilepsy, highlighting its impact on microglial phagocytosis, mitochondrial metabolism, and cytoskeleton, and demonstrating its therapeutic potential in epilepsy management.
Meng Jiang+10 more
wiley +1 more source
Apoptosis Inhibitor of Macrophages in Cats: A Potential Link Between an Exon 3 Variant Allele and Progression of Naturally Occurring Chronic Kidney Disease. [PDF]
Evangelista GCL+6 more
europepmc +1 more source
A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A [PDF]
Vivian Chan, TK Chan, TM Tong, D. Todd
openalex +1 more source
A Phase‐Separated SR Protein Reprograms Host Pre‐mRNA Splicing to Enhance Disease Susceptibility
This study identifies SR30, a splicing factor, as a negative regulator of tomato immunity. During Phytophthora infestans infection, the elevated SR30 forms nuclear condensates to suppress the alternative splicing (AS) of defense‐related genes in a phase separation manner.
Dong Yan+11 more
wiley +1 more source
Cracking rare disorders: a new minimally invasive RNA-seq protocol. [PDF]
De Cock L+20 more
europepmc +1 more source
This study uncovers that CD38high monocytes discriminate sepsis and sterile inflammation and are associated with 28‐day mortality in bacterial sepsis. Targeting CD38 therapy reduces inflammatory response in monocytes and in sepsis mice model. Mechanistically, CD38‐HIF‐1α/glycolysis/MGO loop exacerbates sepsis‐induced immune dysregulation.
Ning Hua+19 more
wiley +1 more source
Survival Outcomes Associated with the Location of BRCA Mutations in Ovarian Cancer: A Systematic Review and Meta-Analysis. [PDF]
Kim JH+7 more
europepmc +1 more source