Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family-Reference-Cited by-同舟云学术

Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family

Published:2020-10-13 Issue:1 Volume:42 Page:62-70
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Pappalardo Juanita¹,Heath Jeffery Rachael C.¹^ORCID,Thompson Jennifer A.²,Charng Jason¹,Chelva Enid S.²,Constable Ian J.¹,McLaren Terri L.¹²,Lamey Tina M.¹²,De Roach John N.¹²,Chen Fred K.¹²³⁴

Affiliation:

1. Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Australia

2. Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Australia

3. Department of Ophthalmology, Royal Perth Hospital, Perth, Australia

4. Department of Ophthalmology, Perth Children’s Hospital, Nedlands, Australia

Funder

Australian National Health and Medical Research Council

McCusker Foundation

Miocevich Retina Fellowship

Retina Australia

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1832533

Reference31 articles.

1. Johns Hopkins University: omim.org [Internet].;c.2019. Baltimore (MD): United States; c.2019. MIM Number: 181031; 2017 Apr 27 [cited 2019 Dec 5]. Available from: http://omim.org/entry/181031.

2. SAG

3. Light-induced binding of 48-kDa protein to photoreceptor membranes is highly enhanced by phosphorylation of rhodopsin

4. Phosphodiesterase activation by photoexcited rhodopsin is quenched when rhodopsin is phosphorylated and binds the intrinsic 48-kDa protein of rod outer segments.

5. Oguchi disease: suggestion of linkage to markers on chromosome 2q.

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy;International Journal of Molecular Sciences;2023-02-14

2. EYS-Associated Sector Retinitis Pigmentosa;Graefe's Archive for Clinical and Experimental Ophthalmology;2021-09-27