Results 211 to 220 of about 14,411 (293)

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy

open access: yesClinical Genetics, EarlyView.
Opticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Katrine M. Johannesen   +9 more
wiley   +1 more source

A 3D Bioprinted Platform That Maintains the Functional Integrity of Primary AML Cells

open access: yesCell Proliferation, EarlyView.
This study presents a 3D bioprinted platform using gelatin‐hyaluronic acid hydrogels to enhance primary AML cell survival and proliferation while preserving stem‐like properties in vitro. By recapitulating in vivo‐like metabolic activity and drug resistance, this system offers a robust tool for preclinical drug screening and personalised therapy ...
Wanling Huang   +10 more
wiley   +1 more source

Mitochondrial respiration and characteristics of skeletal muscles in children with cerebral palsy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Skeletal muscles utilize numerous mitochondria for energy production needed during muscle contraction. Mitochondria produce this energy through the electron transport chain. After an injury such as ACL‐injury in typically developing children, there is a reduction in muscle mitochondrial respiration and content.
Sudarshan Dayanidhi   +10 more
wiley   +1 more source

Opposing roles of DGAT‐mediated lipid droplet biogenesis in the regulation of ferroptosis sensitivity

open access: yesThe FEBS Journal, EarlyView.
Ferroptosis is driven by unrestricted peroxidation of polyunsaturated fatty acyl (PUFA) chains in membrane phospholipids. In triple‐negative breast cancer cells, lipid droplets (LDs) sequester dietary PUFAs, limiting their incorporation into membrane phospholipids, preventing mitochondrial damage, and reducing lipid peroxidation and ferroptosis.
Ana Kump   +10 more
wiley   +1 more source

A new branch of mammalian vitamin B6 metabolism: AKR1C‐mediated conversion of pyridoxal to pyridoxine and 4‐pyridoxolactone

open access: yesThe FEBS Journal, EarlyView.
Pyridoxal 5′‐phosphate (PLP) homeostasis relies on salvage enzymes, yet key metabolic branches remain undefined. We identify AKR1C isozymes as previously undescribed contributors that convert pyridoxal into pyridoxine or 4‐pyridoxolactone through reductase and dehydrogenase activities.
Nayu Kito   +8 more
wiley   +1 more source

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