DNA Methylation Characteristics for Recognizing Mowat-Wilson Syndrome Background Mowat-Wilson syndrome (MOWS) is a rare neurodevelopmental disorder caused by heterozygous deletions or loss-of-function mutations in the ZEB2 gene. This gene encodes a transcription factor involved in neural development. Individuals with MOWS often present with moderat...
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...
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 ...
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)....
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 ...
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...
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 ...
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...
Nucleus Accumbens Corticotropin-Releasing Hormone Neurons Project to Bed Nucleus of the Stria Terminalis to Regulate Wakefulness and Positive Emotional States Background The nucleus accumbens (NAc) plays a crucial role in regulating motivation, reward, and many behaviors that depend on high levels of arousal. However, research on the neural mechani...
In the latest research paper “Chemokine CCL2 Promotes Excitatory Synaptic Transmission in Hippocampal Neurons via GluA1 Subunit Trafficking” published in “Neurosci. Bull.”, researchers from multiple institutions, including the Shanghai Institute of Neuroscience, Chinese Academy of Sciences, and the School of Life Sciences, Peking University, have d...