Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy-Reference-Cited by-同舟云学术

Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy

Published:2019-10-03 Issue:2 Volume:140 Page:147-157
ISSN:0012-4486
Container-title:Documenta Ophthalmologica
language:en
Short-container-title:Doc Ophthalmol

Author:

Hayashi Takaaki^ORCID,Hosono Katsuhiro,Kurata Kentaro,Katagiri Satoshi^ORCID,Mizobuchi Kei^ORCID,Ueno Shinji,Kondo Mineo,Nakano Tadashi,Hotta Yoshihiro

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Sensory Systems,Ophthalmology

Link

http://link.springer.com/content/pdf/10.1007/s10633-019-09727-1.pdf

Reference31 articles.

1. François J, Verriest G, de Rouck A, Dejean C (1956) Les fonctions visuelles dans l’héméralopie essentielle nougarienne. Ophthalmologica 132:244–257

2. Dryja TP, Hahn LB, Reboul T, Arnaud B (1996) Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet 13:358–360. https://doi.org/10.1038/ng0796-358

3. Dryja TP, Berson EL, Rao VR, Oprian DD (1993) Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet 4:280–283. https://doi.org/10.1038/ng0793-280

4. Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T (1994) Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet 7:64–68. https://doi.org/10.1038/ng0594-64

5. Manes G, Cheguru P, Majumder A, Bocquet B, Senechal A, Artemyev NO, Hamel CP, Brabet P (2014) A truncated form of rod photoreceptor PDE6 beta-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the gamma-subunit. PLoS ONE 9:e95768. https://doi.org/10.1371/journal.pone.0095768

Cited by 16 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. Ocular genetics in the Japanese population;Japanese Journal of Ophthalmology;2024-09-14

2. Prohibitin 2 deficiency in photoreceptors leads to progressive retinal degeneration and facilitated Müller glia engulfing microglia debris;Experimental Eye Research;2024-07

3. Enhancing Electroretinogram Classification with Multi-Wavelet Analysis and Visual Transformer;Sensors;2023-10-26

4. Optimal Combination of Mother Wavelet and AI Model for Precise Classification of Pediatric Electroretinogram Signals;Sensors;2023-06-22

5. Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19);Documenta Ophthalmologica;2023-05-10