Novel pathogenic variants in Tubulin Tyrosine Like 5 ( associated with cone-dominant retinal dystrophies and an abnormal optical coherence tomography phenotype.

Purpose: Autosomal recessive cone and cone-rod dystrophies (CD/CRD) are inherited forms of vison loss. Here, we report on and correlate the clinical phenotypes with the underlying genetic mutations.

Methods: Clinical information was collected from subjects, including a family history with a chart review.

RNA modifications in brain tumorigenesis.

RNA modifications are emerging as critical regulators in cancer biology, thanks to their ability to influence gene expression and the predominant protein isoforms expressed during cell proliferation, migration, and other pro-oncogenic properties. The reversibility and dynamic nature of post-transcriptional RNA modifications allow cells to quickly adapt to microenvironmental changes. Recent literature has revealed that the deregulation of RNA modifications can promote a plethora of developmental diseases, including tumorigenesis.