Results 251 to 260 of about 66,057 (350)

CDG due to Defective Membrane Transporters: Update

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

Aldehyde Dehydrogenase 2 Gene Polymorphism and Alcohol Consumption Are Associated With Nephrolithiasis in a Chinese Population

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
ALDH2 polymorphisms are associated with increased risk of nephrolithiasis in humans, and Aldh2 deficiency promotes kidney stone formation in mice, especially under alcohol exposure. ABSTRACT Background Nephrolithiasis is a common urological disorder and has become a significant global public health issue.
Tao Liu   +11 more
wiley   +1 more source

Apoptosis Inhibitor of Macrophage (AIM) Modulates Calcium Oxalate-Induced Ureteral Fibrosis in AIM-Felinized Mice. [PDF]

open access: yesInt J Mol Sci
Machida Y   +11 more
europepmc   +1 more source

Corneal Nerve Regeneration via MSC‐Derived EVs: Tissue Source and Culture Dimensionality Dictate miRNA Cargo and Therapeutic Efficacy

open access: yesSmall, Volume 22, Issue 6, 27 January 2026.
Mesenchymal stem cell‐derived extracellular vesicles (EVs) from human cornea and bone marrow, cultured in 2D and 3D conditions, are characterized and tested for corneal nerve repair. 3D‐derived EVs show superior therapeutic efficacy and in vivo reinnervation.
Hamed Massoumi   +17 more
wiley   +1 more source

Reference values for urinary oxalate, calcium, citrate, uric acid, phosphate, magnesium, sulphate and sodium in biochemistry students at Universidad Nacional del Litoral, Argentina

open access: green, 2017
Verónica Fernández   +7 more
openalex   +1 more source

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