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Overcoming the Challenges to Clinical Development of X-Linked Retinitis Pigmentosa Therapies: Proceedings of an Expert Panel
Formulate recommendations for designing XLRP gene therapy clinical studies to provide the best chance of successful treatment development.
Jun 9, 2023
A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration
Our results . . . augment the evidence that the ARL3 gene is another cause of non-syndromic retinal degeneration.
Dec 31, 2021
New gene therapy technique
Shows promise in stem cell model of retinitis pigmentosa Although the 2017 FDA approval of Spark Therapeutics’ gene therapy Luxturna was...
Jun 10, 2020
Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa
Zhimeng Zhang, Hehua Dai, Lei Wang, Tianchang Tao, Jing Xu, Xiaowei Sun, Liping Yang, Genlin Li | BMC Ophthalmology | Vol. 19, Article #...
Nov 28, 2019
Dominant ARL3-related retinitis pigmentosa
Study confirms that the ARL3 missense variant p.(Tyr90Cys) causes retinitis pigmentosa.
Apr 1, 2019
Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .
May 16, 2017
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa
Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.
Apr 22, 2016
X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15
RPGR mutations were assessed in families with XLRP and a strategy for analyzing highly repetitive mutational hot spots in exon ORF15.
Apr 3, 2003
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