GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss.

Abstract excerpt

Non-syndromic hereditary deafness is a congenital condition that severely impairs the lives of affected children. GJB2 mutations are a common cause of this condition, but their underlying mechanism remains unclear. This study investigates the effects of GJB2 mutations on ear structure and function, as well as the underlying cellular mechanisms, and provides directions for potential therapies. We generated...

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