The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa
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DOI: 10.1080/13816810.2022.2083181
Abstract: ABSTRACT Clinical phenotypes of a patient with a deletion of the entire RPGR gene have not been described in the literature yet. We hereby report a new mutation in a family of X-linked retinitis pigmentosa… read more here.
Keywords: rpgr; deletion entire; retinitis pigmentosa; rpgr gene ... See more keywords
Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa
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DOI: 10.1080/14728214.2022.2152003
Abstract: ABSTRACT Introduction Mutations in the RPGR gene are responsible for one of the most prevalent and severe types of retinitis pigmentosa. Gene therapy has shown great promise to treat inherited retinal diseases, and currently, four… read more here.
Keywords: rpgr; retinitis pigmentosa; gene therapy; therapy products ... See more keywords
Response: ‘letter to the editor: emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa’
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DOI: 10.1080/14728214.2022.2152212
Abstract: We are grateful for the opportunity to respond to the letter [1] from anonymous employees of MeiraGTx in relation to our ‘Opinion’ article, in which we discuss gene therapy approaches for RPGR-related retinitis pigmentosa (RP)… read more here.
Keywords: full length; rpgr; cone; deletion ... See more keywords
Mutation Analysis of the RPGR Gene in a Chinese Cohort
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DOI: 10.3389/fgene.2022.850122
Abstract: Purpose: The purpose of this study was to investigate the clinical and genetic characteristics of the retinitis pigmentosa GTPase regulatory factor gene (RPGR) in a Chinese cohort. Methods: A retrospective analysis was performed on 80… read more here.
Keywords: rpgr; chinese cohort; analysis; gene ... See more keywords
Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy
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DOI: 10.3389/fgene.2022.999695
Abstract: Background: This study analyzed the phenotypes and genotypes of 41 Chinese families with inherited retinal dystrophy (IRD) and RPGR gene mutations. Methods: This retrospective analysis evaluated a cohort of 41 patients who were subjected to… read more here.
Keywords: rpgr; dystrophy; inherited retinal; analysis ... See more keywords
Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability
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DOI: 10.3390/jpm12030502
Abstract: The RPGR gene encodes Retinitis Pigmentosa GTPase Regulator, a known interactor with ciliary proteins, which is involved in maintaining healthy photoreceptor cells. Variants in RPGR are the main contributor to X-linked rod-cone dystrophy (RCD), and… read more here.
Keywords: rpgr; ipsc; intronic rpgr; therapy ... See more keywords