Potential Association between Somatic CAG Repeat Instability in HTT Intermediate Alleles and Clinical Phenotype Research Background Huntington’s disease (HD) is a neurodegenerative disorder caused by the expansion of CAG trinucleotide repeats (≥36 CAG repeats) in the HTT gene. Intermediate alleles (IAs) with 27-35 CAG repeats are generally not cons...
Unique Yin Yang Haplotypes Widely Present in the Human Genome Research Background In genomic studies, yin yang haplotypes refer to pairs of haplotypes that differ at every site. While previous independent reports have indicated the existence of unique yin yang haplotypes, no systematic search had been conducted. Therefore, to better understand the ...
Based on the research of Helsmoortel-Van der Aa syndrome (HVDAS) caused by ADNP gene mutations, D’Incal et al. published an in-depth research paper in the European Journal of Human Genetics. Through a case study of a five-year-old girl, the team discovered a three-base pair deletion at the splice acceptor site of the first coding exon of ADNP. This...
Genetic Diversity in Hereditary Hearing Loss: The Potential Role of KINOCILIARY Protein TOGARAM2 Background Hearing Loss (HL) is a feature with multiple causes, and currently, research has identified pathogenic variants in over 200 genes associated with HL. Despite extensive research, the causative factor remains unidentified in more than one-third...
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...
Comparative Study of Molecular Taxonomy in Cortical Regions of Primates and Rodents The brain structure is complex, showing high complexity in both molecular and cellular composition. Current research on brain molecular taxonomy is mainly based on rodents. However, although primates and rodents have common ancestors, they diverged through different...