Results 151 to 160 of about 206,338 (244)

Adaptive Cellular Responsiveness to Electrical Stimulation at the Skin‐Electrode Interface

open access: yesAdvanced Science, EarlyView.
This study presents an adaptive bioelectronic response in which sustained electrical stimulation (ES) upregulates voltage‐gated calcium channels (VGCCs) and enhances cellular sensitivity to subsequent ES at the skin‐device interface. VGCC‐associated adaptive sensitization promotes regenerative wound‐healing responses in vivo, including accelerated ...
Yeon Jae Chang   +11 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

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 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

Congenital cytomegalovirus screening by dried blood spot: a systematic review. [PDF]

open access: yesEur J Pediatr
Machado RA   +8 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

Consented Universal Newborn Screening for Congenital Cytomegalovirus Infection Using Dried Blood Spot and Dried Saliva Spot Specimens: Implementation and Relative Programmatic Accuracy. [PDF]

open access: yesInt J Neonatal Screen
Santander E   +15 more
europepmc   +1 more source

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