Identification of the DNA Methylation Signature of Mowat-Wilson Syndrome

Medicine, Pediatrics, Medical Laboratory Science, Neurology, Life Sciences, Biochemistry, Genetics,
Mowat-Wilson Syndrome   ZEB2   DNA Methylation   Neurodevelopmental Disorder   Biomarker   Genetics   Transcription Factor  

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...

Loss of TBC1D2B Causes a Progressive Neurological Disorder with Gingival Overgrowth

Medicine, Oral Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
TBC1D2B gene   neurological disorder   gingival overgrowth   genetic syndrome   autophagy defect   neurodegenerative disease  

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)

Medicine, Pediatrics, Obstetrics and Gynecology, Endocrinology, Life Sciences, Cell Biology, Biochemistry, Genetics,
Copy number variations   Gonadal dysgenesis   NR0B1 gene   DAX1   46,XY disorders of sex development   Chromosomal microarray analysis   Prenatal screening  

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

Medicine, Neurology, Hematology, Medical Imaging, Life Sciences, Cell Biology, Biochemistry,
Senile plaque   Blue autofluorescence   Aβ   Amyloid aggregation   Hemoglobin   Cathepsin D   Microaneurysm   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

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology, Genetics,
MDGA2   CA1 Pyramidal Neurons   Glutamatergic Inputs   Synaptic Plasticity   Memory   Social Behaviors   Autism  

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

Life Sciences, Cell Biology, Biochemistry,
low-intensity pulsed ultrasound   neuromodulation   L-type calcium channel   hippocampal neuron  

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...