Intron retention (IR) has been implicated in the pathogenesis of complex diseases such as
cancers; its association with Alzheimer's disease (AD) remains unexplored. We performed …

Psoriasis is a chronic inflammatory disease that affects the skin, nails, and joints. For
understanding the mechanism of psoriasis, though, alternative splicing analysis has …

Spinocerebellar ataxia type 1 is caused by an expansion of the polyglutamine tract in
ATAXIN-1. Ataxin-1 is broadly expressed throughout the brain and is involved in regulating …

While exponential growth in public genomic data can afford great insights into biological
processes underlying diseases, a lack of structured metadata often impedes its timely …

A large volume of biological data is being generated for studying mechanisms of various
biological processes. These precious data enable large-scale computational analyses to …

Metadata curation has become increasingly important for biological discovery and
biomedical research because a large amount of heterogeneous biological data is currently …

A vast amount of public RNA-sequencing datasets have been generated and used widely to
study transcriptome mechanisms. These data offer precious opportunity for advancing …

Abstract Spinocerebellar ataxia type 1 (SCA1) is a rare, dominantly inherited monogenic
neurodegenerative disease that primarily affects the Purkinje cells (PCs) of the cerebellum …

This book is a revised version of the Ph. D. dissertation written and successfully defended by
the author to receive her Ph. D. from the School of Information Technology, Politecnico di …

Post-transcriptional RNA modifications including N6-methyladenosine (m6A) regulate
mRNA stability, splicing, and translation. My research examined m6A in two disease models …