Is RPGR-related retinal dystrophy associated with systemic disease? A case series-Reference-Cited by-同舟云学术

Is RPGR-related retinal dystrophy associated with systemic disease? A case series

Published:2023-01-05 Issue:6 Volume:44 Page:577-584
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Han Ruofan Connie¹²^ORCID,Taylor Laura J¹²^ORCID,Martinez-Fernandez de la Camara Cristina¹²,Henderson Robert H³,Thompson Dorothy A³⁴,Cehajic-Kapetanovic Jasmina¹²,MacLaren Robert E¹²

Affiliation:

1. Oxford Eye Hospital, John Radcliffe Hospital, Oxford, UK

2. Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK

3. Department of Ophthalmology, Great Ormond Street Children’s Hospital, London, UK

4. Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK

Funder

no funding associated with the work featured in this article

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2163405

Reference56 articles.

1. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

2. The Role of RPGR and Its Interacting Proteins in Ciliopathies

3. A retinitis pigmentosa GTPase regulator (RPGR)- deficient mouse model for X-linked retinitis pigmentosa (RP3)

4. Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

5. Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration

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