Therapy in Rhodopsin-Mediated Autosomal Dominant Retinitis …
2020年10月7日 · Rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP) is a hereditary degenerative disorder in which mutations in the gene encoding RHO, the light …
Therapy in Rhodopsin-Mediated Autosomal Dominant
2020年10月7日 · Rhodopsin-mediated autosomal dominant retinitis pigmentosa (RHO-adRP) is a hereditary degenerative disorder in which mutations in the gene encoding RHO, the light …
In vivo adenine base editing ameliorates Rho-associated …
2024年12月24日 · Mutations in the Rhodopsin (RHO) gene are the main cause of autosomal dominant retinitis pigmentosa (adRP), 84% of which are pathogenic gain-of-function point …
Gene Augmentation for adRP Mutations in RHO - PMC
Experiments in autosomal dominant retinitis pigmentosa (adRP) mouse models suggest that both RHO augmentation and supplementation plus suppression preserve the survival of rod cells. …
Allele-specific gene-editing approach for vision loss ... - eLife
2023年6月5日 · Mutant RHO is the most frequent genetic cause of autosomal dominant retinitis pigmentosa (adRP). Here, we developed an allele-specific gene-editing therapeutic drug to …
Mutation-independent gene knock-in therapy targeting 5′UTR for ...
2023年3月8日 · RHO mutations are responsible for 20–30% of adRP, with the RhoP23H (p.Pro23His, c.68 C > A) mutation being the most common mutation in adRP patients. 2, 3 …
细数RHO：视网膜色素变性研究下的热门基因（内含小鼠模型推 …
rho突变分为两类：a类突变导致早期丧失夜间视力和整个视网膜的视杆功能异常；b类突变会导致更缓慢的疾病进展，患者至少在视网膜的某些部分将正常的视杆感光细胞保留到成年期。从临 …
Disease modeling and pharmacological rescue of autosomal …
2024年4月25日 · Mutations in the rhodopsin gene (RHO) account for ~25% cases of autosomal dominant RP (adRP). In this study, we describe the disease characteristics of the first-ever …
Treatment of autosomal dominant retinitis pigmentosa caused by RHO …
2023年9月12日 · Mutations in Rhodopsin (RHO) gene commonly cause autosomal dominant retinitis pigmentosa (adRP) without effective therapeutic treatment so far. Compared with …
In vivo adenine base editing ameliorates Rho-associated …
Mutations in the Rhodopsin (RHO) gene are the main cause of autosomal dominant retinitis pigmentosa (adRP), 84% of which are pathogenic gain-of-function point mutations. Treatment …