Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have
various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial …

The Musashi proteins, MSI1 and MSI2, are conserved RNA binding proteins with a role in
the maintenance and renewal of stem cells. Contrasting with this role, terminally …

Pre‐mRNA splicing factors are crucial in regulating transcript diversity, by removing introns
from eukaryotic transcripts, an essential step in gene expression. Splicing of pre‐mRNA is …

Bladder cancer (BCa) is an increasingly severe clinical and public health issue. Therefore,
we aim to investigate BCa susceptibility loci in the Chinese population. In this study, 487 …

The gateway reflex is a mechanism by which neural inputs regulate chemokine expression
at endothelial cell barriers, thereby establishing gateways for the invasion of autoreactive T …

Previous reports have demonstrated that defects in the spliceosome-associated protein
CWC27 can lead to the degeneration of retinal cells in Cwc27 mutant mouse models …

The retina, a component of the central nervous system, is composed of six distinct neuronal
types and various types of glial cells. A technique for single-cell transcriptome analysis …

Background CWC27-related spliceosomeopathy is a rare autosomal recessive disorder with
only 14 patients have been reported. It is characterized by retinal degeneration, short …

FRA10AC1, the causative gene for the manifestation of the FRA10A fragile site, encodes a
well-conserved nuclear protein characterized as a non-core spliceosomal component. Pre …

Retinitis pigmentosa is a genetic disorder affecting the retina. The progression of the
disease leads to vision loss. This thesis concentrates on the causation of autosomal …