Results 161 to 170 of about 594,163 (347)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Pathogenicity of Mediator Complex Subunit 27 (MED27) in a Neurodevelopmental Disorder with Cerebellar Atrophy

open access: yesAdvanced Science, EarlyView.
MED27 is one of the 26 subunits in the human Mediator complex (MED). Neurodevelopmental disorder‐causing MED27 genetic variants induce instability of MED, leading to disrupted DNA occupancy, altered chromatin interaction, and subsequent transcriptional dysregulation of critical downstream genes, including master regulatory transcription factors ...
Nuermila Yiliyaer   +18 more
wiley   +1 more source

Elevated Apolipoprotein E Expression in Hippocampal Microglia Drives Temporal Lobe Epilepsy Progression

open access: yesAdvanced Science, EarlyView.
In temporal lobe epilepsy, hippocampal APOE is markedly upregulated predominantly in microglia. APOE overexpression in microglia drives TLR4 and cGAS/STING‐dependent neuroinflammation, engages bidirectional crosstalk with neurons and astrocytes, increases neuronal excitability, and perturbs hippocampal lipid metabolism. These findings suggest that APOE‐
Jianwei Shi   +10 more
wiley   +1 more source

Identifying Tipping Points during Healthy Brain Aging through Single‐Nucleus Transcriptomic Analysis

open access: yesAdvanced Science, EarlyView.
This study applies single‐nucleus transcriptomics and systems dynamics to uncover nonlinear aging patterns in healthy human brains. By introducing dynamic network biomarker theory, the authors identify a critical tipping point at ages 56–60 during aging, and highlight glial instability as a key mediator.
Peiru Wu   +9 more
wiley   +1 more source

Nanocatalytic Neuroprotection and Neurological Recovery Post‐Traumatic Brain Injury

open access: yesAdvanced Science, EarlyView.
This study demonstrates that combining Ce0.7Zr0.3O2 nanozymes with nimodipine enhances neuroprotection after traumatic brain injury. The therapy reduces oxidative stress, neuronal apoptosis, and improves blood–brain barrier integrity, with nanozymes effective at low doses.
Xinjie Hong   +10 more
wiley   +1 more source

Chronically Stable, High‐Resolution Micro‐Electrocorticographic Brain‐Computer Interfaces for Real‐Time Motor Decoding

open access: yesAdvanced Science, EarlyView.
A high‐resolution micro‐electrocorticographic (µECoG) brain‐computer interface (BCI) for real‐time motor decoding is reported. The application of flexible, scalable µECoG electrode arrays overcomes the insufficient spatial resolution in conventional ECoG BCIs.
Erda Zhou   +15 more
wiley   +1 more source

Home - About - Disclaimer - Privacy