Exploring XIST Silencing and Repressor Factors on the X Chromosome in Early Human and Bovine Embryos Research Background X chromosome inactivation is a dosage compensation mechanism in mammals, aimed at balancing the expression of X-linked genes between females and males. The XIST gene locus can trigger transcriptional silencing of the additional X...
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...
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...
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...