Results 141 to 150 of about 172,015 (263)

Targeting Mitochondrial Redox Signaling Promotes Neuroregeneration and Functional Recovery in a Multiple Sclerosis Model

open access: yesAdvanced Science, EarlyView.
Modulation of mitochondrial redox signaling by furapyrrodole activates CYB5R3 and suppresses Notch signaling, unlocking the regenerative potential of endogenous neural progenitor cells. This approach promotes neurogenesis, oligodendrogenesis, and remyelination, thereby improving neuronal function in a mouse model of multiple sclerosis and identifying ...
Yuki Narushima   +18 more
wiley   +1 more source

DTX3 Suppresses the NPM3–RUVBL1 Axis to Inhibit Homologous Recombination Repair and Abrogate Tumor Radioresistance

open access: yesAdvanced Science, EarlyView.
Deltex 3 (DTX3) catalyzes K27‐linked ubiquitination of nucleophosmin 3 to disrupt homologous recombination repair and reverse tumor radioresistance. Low DTX3 predicts poor survival and radiotherapy recurrence, serving as a radiosensitizing therapeutic target.
Jia‐Hao Xiao   +9 more
wiley   +1 more source

PHGDH‐Mediated Serine Metabolism in Nucleus Pulposus Cells Is a Potential Therapeutic Target for Intervertebral Disc Degeneration

open access: yesAdvanced Science, EarlyView.
When nucleus pulposus cells senesce, PHGDH decreases, reducing serine synthesis and glutathione, impairing antioxidant capacity. The intermediate α‐KG also drops, lowering JMJD3 demethylase activity, increasing H3K27me3 at the Rap1b promoter, and reducing Rap1b expression, whose down‐regulation in turn activates mTORC1 and suppresses autophagy ...
Hao‐Wei Xu   +5 more
wiley   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice   +10 more
wiley   +1 more source

Cytomegalovirus Viremia Is Associated With Mortality Among Children With HIV Starting Antiretroviral Therapy in Sub-Saharan Africa. [PDF]

open access: yesClin Infect Dis
Fisayo T   +14 more
europepmc   +1 more source

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang   +16 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa   +4 more
wiley   +1 more source

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