Many studies have identified disease-causing variants of PIKFYVE in ocular tissues;
however, a comprehensive review of these variants and their ocular phenotypes is lacking …

Ubiquitylation is a post-translational modification that modulates protein function and
stability. It is orchestrated by the concerted action of three types of enzymes, with substrate …

Cannabis sativa L., a plant originating from Central Asia, is a versatile crop with applications
spanning textiles, construction, pharmaceuticals, and food products. This study aimed to …

While it is well-established that UV radiation threatens genomic integrity, the precise
mechanisms by which cells orchestrate DNA damage response and repair within the context …

Mammalian genomes replicate in a cell-type-specific order during the S phase, correlated to
transcriptional activity, histone modifications, and chromatin structure. The causal …

RNAs in circulation carry sequence-specific regulatory information between cells in plant,
animal, and host-pathogen systems. Such RNA can cross generational boundaries, as …

Achieving cell-specific gene expression is crucial in the design of safe and efficacious gene
therapies for the treatment of sensorineural hearing loss. Although a variety of adeno …

Background/Objectives: The purpose of the current study was to compare the methylation of
five regions of the CpG island of MLH1 with the presence of microsatellite instability (MSI) in …

Background Hereditary haemorrhagic telangiectasia (HHT) is an inherited disorder of
vascular malformations. It is caused by inherited loss-of-function mutations in one of three …

Background/Objectives: In heme degradation, biliverdin reductase catalyzes the conversion
of biliverdin to bilirubin. Defects in the biliverdin reductase A gene (BLVRA) causing …