Loss of TBC1D2B Causes a Progressive Neurological Disorder with Gingival Overgrowth

Progressive neurological disease with gingival hyperplasia due to TBC1D2B gene deficiency Background Introduction In recent years, with the rapid development of genomic technologies, scientists have gained deeper insights into the relationship between genetic variations and human diseases. Increasingly, research has revealed the important role thes...

Expanding the Phenotype of Copy Number Variations Involving NR0B1 (DAX1)

This study aims to explore the relationship between copy number variations (CNVs) involving the NR0B1 (DAX1) gene and 46,XY gonadal dysgenesis. 46,XY gonadal dysgenesis (GD) is a disorder of sex development caused by the failure of gonads to fully differentiate into testes. This condition can lead to individuals presenting with female or ambiguous ...

Aβ-Aggregation-Generated Blue Autofluorescence Illuminates Senile Plaques as Well as Complex Blood and Vascular Pathologies in Alzheimer’s Disease

Blue Autofluorescence Generated by Aβ Aggregation Illuminates Senile Plaques and Complex Blood and Vascular Pathologies in Alzheimer’s Disease Research Background Alzheimer’s disease (AD) is a widespread neurodegenerative disorder globally, with senile plaques being the main pathological hallmark of AD, primarily composed of β-amyloid protein (Aβ)....

MDGA2 Constrains Glutamatergic Inputs Selectively onto CA1 Pyramidal Neurons to Optimize Neural Circuits for Plasticity, Memory, and Social Behavior

In the field of neuroscience, synaptic organization and plasticity are crucial for cognitive functions such as memory and social behavior. As rare synaptic inhibitory factors, members of the family known as MAM domain-containing glycosylphosphatidylinositol anchor proteins (MDGA) play an important regulatory role in synapse formation by inhibiting ...

L-Type Calcium Channel Modulates Low-Intensity Pulsed Ultrasound-Induced Excitation in Cultured Hippocampal Neurons

Regulation of L-type Calcium Channels in Low-Intensity Pulsed Ultrasound (LIPUS) Excitation of Cultured Hippocampal Neurons Background In recent years, ultrasound stimulation has been widely used as a non-invasive technique to regulate neuronal activity both in vivo and in vitro. However, the potential mechanism of neural modulation effects induced...

Comparative Molecular Taxonomics of Neurons in the Cingulate Cortex of Rhesus Monkey and Mouse via Single-Nucleus RNA Sequencing

Comparative Study of Molecular Taxonomy in Cortical Regions of Primates and Rodents The brain structure is complex, showing high complexity in both molecular and cellular composition. Current research on brain molecular taxonomy is mainly based on rodents. However, although primates and rodents have common ancestors, they diverged through different...

High Magnesium Promotes the Recovery of Binocular Vision from Amblyopia via TRPM7

Mechanism Study of High Magnesium Promoting Binocular Vision Recovery in Amblyopia Patients: The Role of TRPM7 Abnormal visual experiences during critical periods of brain development can lead to visual function deficits, such as amblyopia. Current research suggests that high magnesium (Mg^2+) supplementation can restore synaptic plasticity in the ...

Microglial EPOR Contribute to Sevoflurane-Induced Developmental Fine Motor Deficits Through Synaptic Pruning in Mice

Contemporary Anesthesia Safety Research: New Pathological Mechanism of Fine Motor Deficits in Mice With the advancement of modern anesthesia techniques, millions of lives rely on successful surgeries each year. However, various clinical studies, including those by the Mayo Anesthesia Safety in Kids (MASK) group, suggest that children who undergo mu...

Fluoxetine Rescues Excessive Myelin Formation and Psychological Behaviors in a Murine PTSD Model

Fluoxetine Rescues Excessive Myelin Formation and Psychological Behaviors in a Murine PTSD Model Background Post-traumatic stress disorder (PTSD) is a complex mental disorder characterized by spontaneous intrusions of traumatic memories, avoidance of trauma-related stimuli, negative emotions and cognitions, and hyperarousal. Although existing first...

Serum LDL Promotes Microglial Activation and Exacerbates Demyelinating Injury in Neuromyelitis Optica Spectrum Disorder

Study on Serum LDL Promoting Microglial Activation and Exacerbating Demyelination in Neuromyelitis Optica Spectrum Disorder Neuromyelitis Optica Spectrum Disorder (NMOSD) is an autoimmune inflammatory demyelinating disease of the central nervous system (CNS), often accompanied by disruption of the blood-brain barrier (BBB). Dysfunction of lipid met...