Apr 22, 2016USH2APanel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaTargeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.
Mar 3, 2009CA4Pathogenesis of RP associated with apoptosis-inducing mutations in CA4Apoptosis induced by the CA4 mutants could be prevented, at least partially, by treating the cells with dorzolamide, a CA inhibitor.
Jan 14, 2005CA4Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degenerationAbstract Retina and retinal pigment epithelium (RPE) belong to the metabolically most active tissues in the human body. Efficient removal...