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

Medicine, Cardiovascular System, Life Sciences, Genetics,
Gemin5 mutations   Coenzyme Q10 deficiency   Neurological improvement   MRI abnormalities   Whole exome sequencing   Biosynthesis decrease   Oral CoQ10 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

Medicine, Pediatrics, Rheumatology and Immunology, Life Sciences, Immunology, Genetics,
Severe Combined Immunodeficiency   Newborn Screening   Uncertainty   Parental Experience   Healthcare   Emotional Support  

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

Medicine, Cardiovascular System, Life Sciences, Genetics,
Genetics   Connective Tissue Disorder   Vascular Fragility   THBS2 Gene Mutation   CRISPR/Cas9 Mouse Model  

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

Medicine, Ophthalmology, Life Sciences, Genetics,
Acorea disease   Familial syndrome   GJA8 gene   Genetic variants   Microphthalmia   Cataract   Gap junction protein  

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)

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)....

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

Information Science, Computer Science, Artificial Intelligence, Medicine, Neurology, Medical Imaging,
independent component analysis   functional magnetic resonance imaging   brain functional networks   clustering   multi-model-order  

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

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 ...

Application of Gene Therapy in Focal Cortical Dysplasia

Medicine, Neurology, Neurosurgery, Life Sciences, Genetics,
gene therapy   focal cortical dysplasia   epilepsy   neuroscience   behavioral disorder  

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...

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

Medicine, Neurosurgery,
spinal cord injury   MERTK   blood-spinal cord barrier   RhoA/ROCK1/P-MLC pathway   apoptosis   inflammation  

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...