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Synthesis, Biological Activity, and Molecular Dynamics Simulations of LNA-Charge Neutral Linkages for Enhanced Splice-Switching Antisense Oligonucleotides
Mapping chromatin structure at base-pair resolution unveils a unified model of cis-regulatory element interactions
CRISPR targeting of SNPs associated with age-related macular degeneration in ARPE-19 cells: a potential model for manipulating the complement system
This study explores a novel CRISPR targeting approach to manipulate the complement cascade in AMD using the reliable ARPE19 cell line as an in vitro model. Our results demonstrate efficient DNA editing with CRISPR in ARPE-19 cells, with notable allele specificity in the editing of various AMD-related SNPs in the complement system. The key factor influencing allele specificity is the distance of the target SNP from the PAM site.
Central Retinal Sensitivity Decline in RPGR-related Retinal Phenotypes
Purpose: To characterize the natural history of central retinal sensitivity decline in RPGR-associated retinopathy, and to evaluate and quantify phenotypic differences in disease progression using microperimetry-derived metrics.
Design: A retrospective cohort study SUBJECTS: 50 patients with genetically confirmed RPGR mutations (36 rod-cone, 14 cone-rod dystrophy [CORD]), contributing 357 microperimetry assessments.