Associated Papers
Structural and functional dynamics of human cone cGMP-phosphodiesterase important for photopic vision.
Singh S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
The m6A reader YTHDC2 maintains visual function and retinal photoreceptor survival through modulating translation of PPEF2 and PDE6B.
Yang Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2024
New focus on regulation of the rod photoreceptor phosphodiesterase.
Gulati S et al.
Current Opinion in Structural Biology, 2021
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L et al.
International Journal of Molecular Sciences, 2021
Mechanisms of mutant PDE6 proteins underlying retinal diseases.
Gopalakrishna KN et al.
Cellular Signalling, 2017
Novel mutations in PDE6B causing human retinitis pigmentosa.
Cheng LL et al.
International Journal of Ophthalmology, 2016
Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
Kuniyoshi K et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2015
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Biology and therapy of inherited retinal degenerative disease: insights from mouse models.
Veleri S et al.
Disease Models & Mechanisms, 2015
Variable phenotypic expressivity in inbred retinal degeneration mouse lines: A comparative study of C3H/HeOu and FVB/N rd1 mice.
van Wyk M et al.
Molecular Vision, 2015
A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.
Manes G et al.
Plos One, 2014
Atypical retinal degeneration 3 in mice is caused by defective PDE6B pre-mRNA splicing.
Muradov H et al.
Vision Research, 2012
[Cause of retinitis pigmentosa and new therapeutics under development].
Sakamoto K et al.
Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Naturally occurring animal models with outer retina phenotypes.
Baehr W et al.
Vision Research, 2009
Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N.
Tsui I et al.
Current Eye Research, 2008
Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.
Zeitz C et al.
Investigative Ophthalmology & Visual Science, 2008
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.
Tsang SH et al.
Human Mutation, 2007
Structure of the GAF domain, a ubiquitous signaling motif and a new class of cyclic GMP receptor.
Ho YS et al.
The Embo Journal, 2000
Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa.
Gao YQ et al.
Experimental Eye Research, 1996
Resolution of night blindness in fundus albipunctatus.
Kranias G et al.
Annals of Ophthalmology, 1981