Results 221 to 230 of about 1,943,814 (363)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero   +15 more
wiley   +1 more source

IPANEMAP Suite: a pipeline for probing-informed RNA structure modeling. [PDF]

open access: yesNAR Genom Bioinform
Hardouin P   +6 more
europepmc   +1 more source

Activation of SIRT1 Reduces Renal Tubular Epithelial Cells Fibrosis in Hypoxia Through SIRT1‐FoxO1‐FoxO3‐Autophagy Pathway

open access: yesAdvanced Biology, EarlyView.
Hypoxia promotes the epithelial‐mesenchymal transition (EMT) of renal tubular epithelial cells via the SIRT1‐FoxO1‐FoxO3‐autophagy pathway, thereby resulting in the fibrosis of renal tubular epithelial cells. Activation of SIRT1 or induction of autophagy inhibits this process, alleviating hypoxia‐induced fibrosis.
Guangyu Wang   +6 more
wiley   +1 more source

Bioorthogonal Cyclopropenones for Investigating RNA Structure. [PDF]

open access: yesACS Chem Biol
Chen S   +7 more
europepmc   +1 more source

The Potential for Extracellular Vesicles in Nanomedicine: A Review of Recent Advancements and Challenges Ahead

open access: yesAdvanced Biology, EarlyView.
Extracellular vesicles (EVs) play a dual role in diagnostics and therapeutics, offering innovative solutions for treating cancer, cardiovascular, neurodegenerative, and orthopedic diseases. This review highlights EVs’ potential to revolutionize personalized medicine through specific applications in disease detection and treatment.
Farbod Ebrahimi   +4 more
wiley   +1 more source

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