Results 71 to 80 of about 113,820 (337)
This study investigates hypoglycemia‐induced diabetic macrovascular endothelial dysfunction. It reveals that hypoglycemia triggers ZBP1‐dependent PANoptosis of endothelial cells, proinflammatory polarization of macrophages, and fibrosis of vascular smooth muscle cells (VSMCs) in diabetic mice.
Deyu Zuo+10 more
wiley +1 more source
Basic Concepts of Inborn Errors and Defects of Steroid Biosynthesis [PDF]
John F. Crigler
openalex +3 more sources
Gentle Label‐Free Nonlinear Optical Imaging Relaxes Linear‐Absorption‐Mediated Triplet
The phototoxicity in nonlinear optical microscopy arises mainly from linear absorption of intrinsic biomolecules rather than nonlinear absorption. This mechanism is supported by a reproducible phototoxicity assay based on widely available chicken breast.
Geng Wang+4 more
wiley +1 more source
Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert
Background Gaucher Disease (GD) is a lysosomal storage disorder. Mutations in the GBA1 gene cause glucocerebrosidase enzyme deficiency that leads to the accumulation of its substrates.
Ayşe Akyüz+4 more
doaj +1 more source
PKU and COVID19: How the pandemic changed metabolic control
Background: COVID19 pandemic urged the need to take severe measures for reducing the epidemic spread. Lockdowns were imposed throughout countries and even Inborn errors of metabolism (IEMs) affected patients had to face it and adapt, with management ...
Valentina Rovelli+9 more
doaj
The incidence of portal vein thrombosis at liver transplantation [PDF]
The incidence of portal vein thrombosis was examined in 885 patients who received orthotopic liver transplantations for various end‐stage liver diseases between 1989 and 1990. The thrombosis was classified into four grades.
Iwatsuki, S+3 more
core +1 more source
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
openaire +4 more sources
Post‐Translational Modifications in Cilia and Ciliopathies
This review synthesizes current understanding of post‐translational modifications (PTMs) in ciliary proteins and emphasizes their roles in ciliary formation, homeostasis, and signaling. This review also discusses the implication of PTM dysregulation in ciliopathies and explores therapeutic strategies targeting PTM‐modifying enzymes.
Jie Ran, Jun Zhou
wiley +1 more source
LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]
A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper+15 more
core +1 more source
Through a comprehensive multi‐omics analysis, this study identifies a marked reduction in Nephronectin (NPNT) expression within fibrotic lung tissue. This reduction impairs the binding capability to the ITGA3 receptor, consequently causing YAP1 to persist in the cytoplasm, where it undergoes degradation.
Jiayu Guo+20 more
wiley +1 more source