Association of Variants in GJA8 with Familial Acorea-Microphthalmia-Cataract Syndrome

New Discovery: Study on the Association between GJA8 Gene Mutations and Familial Aniridia-Microphthalmia-Cataract Syndrome Research Background Normal eye development is a process that requires the coordinated action of multiple genes and factors. Abnormal eye development can lead to congenital eye malformations such as anophthalmia, microphthalmia,...

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 ...

Face-Specific Activity in the Ventral Stream Visual Cortex Linked to Conscious Face Perception

Face-Specific Activity in the Ventral Stream Visual Cortex Linked to Conscious Face Perception

Exploring the Relationship between Face-Specific Activity and Conscious Face Perception Introduction Face perception is a fundamental cognitive process that enables humans to effectively identify faces in the environment, thus facilitating better social interactions. Extensive research has identified a specific region in the ventral visual cortex o...

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)....

Smart (Splitting‑Merging Assisted Reliable) Independent Component Analysis for Extracting Accurate Brain Functional Networks

Smart Independent Component Analysis (SMART ICA): An Innovative Method for Extracting Accurate Brain Functional Networks Background Introduction In brain science research, Functional Networks (FNs) show great potential for understanding human brain function by exploring the integration and interaction relationships between different brain regions. ...

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 ...

Application of Gene Therapy in Focal Cortical Dysplasia

New Gene Therapy Approach May Control Epileptic Seizures Caused by Focal Cortical Dysplasia Focal Cortical Dysplasia (FCD) is a type of disorder caused by abnormal cortical development, often accompanied by drug-resistant epilepsy and cognitive and behavioral disorders. According to the classification criteria proposed by Najm et al. in 2022 for th...

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...

MERTK Reduces Blood-Spinal Cord Barrier Permeability Through the RhoA/ROCK1/P-MLC Pathway After Spinal Cord Injury

Study on MERTK Reducing Blood-Spinal Cord Barrier Permeability after Spinal Cord Injury via RhoA/ROCK1/p-MLC Pathway Spinal Cord Injury (SCI) is a central nervous system disease caused by trauma, inflammation, tumors, or other pathological reasons, resulting in sensory, motor, and autonomic nervous system dysfunction in patients, imposing a heavy b...