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...
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,...
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 ...
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 ...
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...
Mitochondrial Targeting Application of Genetically Encoded Voltage Indicators (GEVIs) Background and Research Motivation Mitochondria, as the energy factories of eukaryotic cells, play crucial roles in various cellular processes, including bioenergetic conversion, metabolite synthesis, cell survival, calcium storage, and heat production. In organs ...
A Novel Autosomal Dominant Parkinsonism/Cerebellar Ataxia Syndrome Caused by Cysteinyl-tRNA Synthetase Mutation Background Recently, a Chinese research team discovered a new pathogenic gene for a rare neurodegenerative disease that presents as a combination of Parkinson’s disease and cerebellar ataxia symptoms, which does not fit the description of...
Prediction of Invasiveness and Treatment Resistance Behavior of Pituitary Neuroendocrine Tumors Based on Genome-Wide Loss of Heterozygosity Background: Pituitary neuroendocrine tumors (PitNETs) are mostly benign, but a small portion exhibit invasive and treatment-resistant behaviors, continuing to grow or metastasize even after surgery, conventiona...
Changes in Gene Expression and Protein Insolubility in Alzheimer’s Disease Progression Background Introduction As the most common type of dementia, Alzheimer’s Disease (AD) is well-known for its two main neuropathological features: amyloid plaques and neurofibrillary tangles (NFTs). Amyloid plaques consist of β-amyloid (Aβ) peptide segments generat...
Research Background In the field of neuroscience, amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two highly heterogeneous neurodegenerative diseases. Studies indicate that non-coding hexanucleotide repeat expansions in the c9orf72 gene are the most common genetic causes of these diseases. However, the specific ...