Mutations of Gemin5 Associated with Coenzyme Q10 Deficiency: Long-Term Follow-Up After Treatment

Gemin5 Gene Mutation-Related Coenzyme Q10 Deficiency: Long-term Follow-up After Treatment Background Gemin5 is a highly conserved multifunctional protein that mainly functions in assembling small RNA-protein complexes in the cytoplasm and participates in the splicing process of pre-mRNA to generate mature mRNA. Previous studies have reported a seri...

Uncertainties Experienced by Parents of Children Diagnosed with Severe Combined Immunodeficiency Through Newborn Screening

Instant Inclusion: In-depth Analysis of Uncertainties Experienced by Parents of Newborns with Severe Combined Immunodeficiency Research Background Severe Combined Immunodeficiency (SCID) is a rare and potentially fatal genetic disorder. Without timely diagnosis and treatment, patients face life-threatening conditions. In recent years, early identif...

Causative Study of Ehlers-Danlos Syndrome with Prominent Vascular Features

Heterozygous THBS2 Pathogenic Variants Cause Ehlers-Danlos Syndrome with Prominent Vascular Features in Humans and Mice Paper Background Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders caused by mutations in collagen and collagen-related genes. These disorders present in various forms and can be classified into 14 different t...

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...