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Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curationNARA Subscribed
Gene-based therapies are being developed for retinal diseases, including RS1- related X-linked retinoschisis. Therefore it is essential to determine which variants are pathogenic and which are benign when enrolling patients. The Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Diseases (XLRD) Variant Curation Expert Panel (VCEP) brings together clinician scientists, molecular biologists, and geneticists to apply t...
Molecular and toxicogenetic safety profile of short-term nitrous oxide anesthesia in surgical patientsNARA Subscribed
Background Nitrous oxide (N2O) is a widely used anesthetic; however, its potential to compromise genomic stability by disrupting vitamin B12 and folate metabolism remains a critical concern in clinical molecular biology. Since N2O can oxidize cobalamin, it may theoretically impair the methionine synthase pathway, leading to DNA damage. Thus, this study aimed to evaluate the toxicogenetic impact—DNA damage and gene expression—a...
The Snell’s waltzer mouse ( Myo6 sv/sv ) serves as a model for human deafness and vestibular behavioral impairment, caused by a spontaneous 130 bp recessive deletion in the Myo6 gene. In this study, we characterized the auditory and vestibular phenotypes of Myo6 sv/sv mice. These mice exhibit profound hearing loss, with cochlear hair cell stereocilia beginning to fuse soon after birth, ultimately leading to disorganization of...