Embryonic development is an exceptionally dynamic process, requiring a provisional
extracellular matrix that is amenable to rapid remodeling, and proteolytic or non-proteolytic …

Primary open-angle glaucoma (POAG) is a genetically, physiologically, and phenotypically
complex neurodegenerative disorder. This study addressed the expanding collection of …

Assessing the impact of variants of unknown significance (VUS) on splicing is a key issue in
molecular diagnosis. This impact can be predicted by in silico tools, but proper evaluation …

Corneal hysteresis and corneal resistance factor are parameters that reflect the dynamic
biomechanical properties of the cornea and have been shown to be biomarkers of corneal …

The effects of inflammation may not always benefit the individual. Its amplifying nature
represents a highly regulated biological program, and the inflammatory microenvironment is …

Wagner syndrome (WS) is an autosomal dominant vitreoretinopathy affecting various ocular
features and is caused by mutations in the canonical splice sites of the VCAN gene, which …

Background Circular RNAs (circRNAs) are closely associated with the occurrences and
progress of gastric cancer (GC). We aimed to delve into the function and pathological …

Purpose: To gain insight into the pathophysiology of vitreoretinal degeneration, the clinical
course of three family members with Versican Vitreoretinopathy (VVR) is described, and a …

Splicing of transcripts is catalyzed by the spliceosome, a mega-complex consisting of
hundreds of proteins and five snRNAs, which employs direct interactions. When U1 snRNA …

Purpose To report the clinical (anatomic and functional) and genetic findings of Wagner
Syndrome (WS) in a Portuguese family. Methods Nine members of the family agreed to be …