Results 51 to 60 of about 133,969 (268)
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source
Identification and analyses of exonic and copy number variants in spastic paraplegia
Scientific ReportsHereditary spastic paraplegias are a diverse group of degenerative disorders that are clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic, where spastic paraplegia is complicated by further neurological features.
Anum Shafique +8 more
doaj +1 more source
Advanced Science, EarlyView.This study reveals a citrate–ACLY–H3K27ac metabolic–epigenetic axis driving inflammatory gene activation and kidney fibrosis, highlighting ACLY inhibition as a potential therapeutic strategy for chronic kidney disease (CKD). ABSTRACT The mechanisms by which metabolic stress drives epigenetic dysregulation and fibrosis in chronic kidney disease (CKD ...
Chunxiu Du +15 more
wiley +1 more source
Transposase‐Assisted Donor Tethering Boosts Large‐Fragment HDR in Plants
Advanced Science, EarlyView.A transposase‐assisted donor tethering strategy is developed to enhance homology‐directed repair in plants. By recruiting donor DNA to double‐strand breaks and synergizing with repair pathway reprogramming and transcription‐coupled donor design, this system markedly improves large‐fragment targeted insertion efficiency, providing a robust platform for ...
Sha Wei +8 more
wiley +1 more source
Advanced Science, EarlyView.This study reveals that Alzheimer's disease–linked APP expression in bone‐forming cells drives skull bone marrow remodeling and alters its vascular connections to the brain. These changes disrupt immune cell trafficking, cerebral blood flow, and cognition. Targeting bone marrow macrophages restores brain function, highlighting a previously unrecognized
Lei Xiong +6 more
wiley +1 more source
Advanced Science, EarlyView.In the pathological state of PD induced by MPP+, the upregulated PRMT9 in dopaminergic neurons translocates into mitochondrion and interacts with DUSP26 and catalyzes its arginine methylation, leading to the ubiquitin‐proteasomal degradation of DUSP26 mediated by Trim32.
Tengfei Liu +13 more
wiley +1 more source
A Conserved DT2‐bZIP66‐NF‐YC4 Regulatory Module Confers Drought Tolerance in Rice and Arabidopsis
Advanced Science, EarlyView.This study identifies a conserved tripartiteDT2–bZIP66–NF‐YC4 transcriptional module that enhances rice drought tolerance by activating stress‐responsive genes. This regulatory complex is functionally conserved across cereals and Arabidopsis, providing promising targets for engineering drought‐resilient crops. ABSTRACT Drought stress severely restricts
Jun Shen +18 more
wiley +1 more source