Investigating the Role of GABA in Neural Development and Disease Using Mice Lacking GAD67 or VGAT Genes.

Normal development and function of the central nervous system involves a balance between excitatory and inhibitory neurotransmission. Activity of both excitatory and inhibitory neurons is modulated by inhibitory signalling of the GABAergic and glycinergic systems. Mechanisms that regulate formation, maturation, refinement, and maintenance of inhibitory synapses are established in early life.

Functional divergence of the two Elongator subcomplexes during neurodevelopment.

The highly conserved Elongator complex is a translational regulator that plays a critical role in neurodevelopment, neurological diseases, and brain tumors. Numerous clinically relevant variants have been reported in the catalytic Elp123 subcomplex, while no missense mutations in the accessory subcomplex Elp456 have been described. Here, we identify ELP4 and ELP6 variants in patients with developmental delay, epilepsy, intellectual disability, and motor dysfunction.

Measuring the quality of life of the families of children with eczema in Hong Kong.

Background: Eczema is the most common skin problem among children in Hong Kong. Previous studies have highlighted that the quality of life of the families of children with eczema influences the effects of eczema interventions. However, the Chinese version of the Family Dermatology Life Quality Index (C-FDLQI), a tool for measuring the quality of life of the families of children with eczema, has not yet been validated.

Hypermethylation of the p16 gene promoter in pterygia and its association with the expression of DNA methyltransferase 3b.

Purpose: A pterygium has long been considered as a degenerative condition. After p53 protein was found to be abnormally expressed in the epithelium, researchers suggested that a pterygium may be a tumor, but additional evidence is required to support this hypothesis. Aberrant methylation of the p16 gene (CDKN2A) promoter and resultant gene silencing play important roles in the pathogenesis of many types of human cancers.

Effect of p53 codon 72 polymorphism on p53 protein expression in pterygium.

Background: The p53 protein is expressed in pterygial epithelium, but the reported prevalence of its expression varies widely. Although the cause of this variation is unknown, several factors that may play a role have been investigated, but without conclusive findings. In the present study, the role of p53 codon 72 polymorphism, and that of both age and gender, on p53 expression in pterygium was investigated.