Results 221 to 230 of about 305,611 (291)
This study demonstrates significantly reduced Lkb1 expression in CD11c+ cells in chronic pancreatitis (CP) patients and animal models. Lkb1 deletion enhances CD11c+CD206+ macrophage infiltration and reprograms pancreatic stellate cells (PSCs) via OSM signaling.
Wenqing Zhang +10 more
wiley +1 more source
A Single-Center Genotype-Phenotype Correlation Cohort Study of Hyperphenylalaninemia Patients: Genetic Analysis as a Deterministic Tool for Treatment Consistency. [PDF]
Peker A +6 more
europepmc +1 more source
SETD1A is a key epigenetic regulator in NPCs during IDD. In normal NPCs, it sustains H3K4me3–HELZ2/PPARα–HIF1α signaling to maintain glycolytic energy metabolism and proliferation. In degenerated NPCs, reduced SETD1A disrupts this axis, impairing glycolysis and accelerating senescence, highlighting a promising therapeutic target for IDD.
Jiawei Fu +11 more
wiley +1 more source
Dysregulated TCA cycle contributes to Alzheimer's disease (AD) pathogenesis. Here, we show that microglial isocitrate dehydrogenase 1 (IDH1) is a critical driver. Elevated IDH1 disrupts citrate metabolism and mitochondrial function, exacerbating AD pathology.
Qianqian Li +13 more
wiley +1 more source
Expanding the <i>COL4A4</i> variant spectrum: genotype-phenotype correlation in 19 Chinese children using updated Alport kidney disease classification. [PDF]
Huang Y +6 more
europepmc +1 more source
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
Genotype-Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Using Next Generation Sequencing. [PDF]
Atas N, Karaoglan M, Nacarkahya G.
europepmc +1 more source
After spinal cord injury, adult microglia remain persistently activated with chronic PRMT6 (protein arginine methyltransferase 6) upregulation. Prmt6 deficiency or inhibition reestablishes microglial homeostasis and promotes a scar‐limited repairment, enhancing axonal regrowth.
Weilin Peng +9 more
wiley +1 more source
Clinical Variability and Genotype-Phenotype Correlation in Spanish Patients with Type 1 Gaucher Disease: A Focus on Non-c.[1226A>G]; [1448T>C] Genotypes. [PDF]
Serrano-Gonzalo I +9 more
europepmc +1 more source
Schematic representation of the role of lipophagy in bone mesenchymal stem cells(MSCs). In healthy MSCs, functional lipophagy efficiently degrades lipid droplets to support oxidative phosphorylation and cellular energy production, thereby facilitating osteogenic differentiation and matrix mineralization.
Chaoqiang Chen +8 more
wiley +1 more source

