The effects of ush2a gene knockout on vesicle transport in photoreceptors.

USH2A (Usher syndrome type 2A) gene mutations are the predominant cause of Usher syndrome type 2, characterized by sensorineural hearing loss and retinitis pigmentosa (RP), and also significant contributors to non-syndromic RP. To date, there is a lack of definitive therapeutic interventions to mitigate the associated disorders caused by USH2A mutations, and the precise pathogenic mechanisms underlying their onset remain unclear. In the present study, we utilized the ush2a knockout zebrafish model to investigate the pathological mechanisms of RP.

Differences in actionable genomic alterations between brain metastases and non‑brain metastases in patients with non‑small cell lung cancer.

Brain metastases (BM) have been closely associated with increased morbidity and poor survival outcomes in patients with non‑small cell lung cancer (NSCLC). Excluding risk factors in histological subtypes, genomic alterations, including epidermal growth factor receptor mutations and anaplastic lymphoma kinase () rearrangements have been also regarded as greater risk factors for BM in the aspect of molecular subtypes. In the present study, 69 tumor tissues and 51 peripheral blood samples from patients with NSCLC were analyzed using a hybridization capture‑based next‑generation sequencing (NGS) panel, including 95 known cancer genes.