Associated Papers
Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids.
Leung A et al.
Molecular Therapy. Nucleic Acids, 2025
In vivo prime editing rescues photoreceptor degeneration in nonsense mutant retinitis pigmentosa.
Fu Y et al.
Nature Communications, 2025
Identification of coexisting Mfrprd6 and Pde6brd10 mutations causing spontaneous retinal detachment in commercially available rd6 mice.
Shiozawa AL et al.
Plos One, 2025
dCasMINI-mediated therapy rescues photoreceptors degeneration in a mouse model of retinitis pigmentosa.
Wang Q et al.
Science Advances, 2024
Proteomics identifies multiple retinitis pigmentosa associated proteins involved in retinal degeneration in a mouse model bearing a Pde6b mutation.
Yang M et al.
Scientific Reports, 2024
Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy.
Hashem SA et al.
American Journal of Ophthalmology, 2024
Prominin 1 is crucial for the early development of photoreceptor outer segments.
Yanardag S et al.
Scientific Reports, 2024
Germline knockout of Nr2e3 protects photoreceptors in three distinct mouse models of retinal degeneration.
Kolesnikov AV et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
The p.C759F Variant in USH2A Is a Pathogenic Mutation: Systematic Literature Review and Meta-Analysis of 667 Genotypes.
Han JH et al.
Ophthalmic Research, 2024
Does Background Matter? A Comparative Characterization of Mouse Models of Autosomal Retinitis Pigmentosa rd1 and Pde6b-KO.
Chirinskaite AV et al.
International Journal of Molecular Sciences, 2023
A New Preclinical Model of Retinitis Pigmentosa Due to Pde6g Deficiency.
Jentzsch MC et al.
Ophthalmology Science, 2023
Identification and Characterization of Retinitis Pigmentosa in a Novel Mouse Model Caused by PDE6B-T592I.
Xia CH et al.
Biomedicines, 2023
AAV-mediated base-editing therapy ameliorates the disease phenotypes in a mouse model of retinitis pigmentosa.
Wu Y et al.
Nature Communications, 2023
cGMP Signaling in Photoreceptor Degeneration.
Li S et al.
International Journal of Molecular Sciences, 2023
In vivo base editing rescues photoreceptors in a mouse model of retinitis pigmentosa.
Su J et al.
Molecular Therapy. Nucleic Acids, 2023
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Reurink J et al.
Npj Genomic Medicine, 2022
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Kuehlewein L et al.
International Journal of Molecular Sciences, 2021
A novel mutation in PDE6B in Spanish Water Dogs with early-onset progressive retinal atrophy.
Winkler PA et al.
Veterinary Ophthalmology, 2020
Rhodopsin signaling mediates light-induced photoreceptor cell death in rd10 mice through a transducin-independent mechanism.
Sundar JC et al.
Human Molecular Genetics, 2020
PRCD is concentrated at the base of photoreceptor outer segments and is involved in outer segment disc formation.
Allon G et al.
Human Molecular Genetics, 2019
Broad spectrum metabolomics for detection of abnormal metabolic pathways in a mouse model for retinitis pigmentosa.
Weiss ER et al.
Experimental Eye Research, 2019
Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B.
Khateb S et al.
Jama Ophthalmology, 2019
Gene Editing Preserves Visual Functions in a Mouse Model of Retinal Degeneration.
Vagni P et al.
Frontiers in Neuroscience, 2019
Optical Coherence Tomography of Animal Models of Retinitis Pigmentosa: From Animal Studies to Clinical Applications.
Nakazawa M et al.
Biomed Research International, 2019
The PDE6 mutation in the rd10 retinal degeneration mouse model causes protein mislocalization and instability and promotes cell death through increased ion influx.
Wang T et al.
The Journal of Biological Chemistry, 2018
Do cGMP Levels Drive the Speed of Photoreceptor Degeneration?
Iribarne M et al.
Advances in Experimental Medicine and Biology, 2018
The pros and cons of vertebrate animal models for functional and therapeutic research on inherited retinal dystrophies.
Slijkerman RW et al.
Progress in Retinal and Eye Research, 2015
Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
Pozo MG et al.
American Journal of Medical Genetics. Part A, 2015
Destructive Changes in the Neuronal Structure of the FVB/N Mouse Retina.
Yang J et al.
Plos One, 2015
Review: the history and role of naturally occurring mouse models with Pde6b mutations.
Han J et al.
Molecular Vision, 2013
IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds.
Goldstein O et al.
Investigative Ophthalmology & Visual Science, 2013
Activation of survival pathways in the degenerating retina of rd10 mice.
Samardzija M et al.
Experimental Eye Research, 2012
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
Functional rescue of degenerating photoreceptors in mice homozygous for a hypomorphic cGMP phosphodiesterase 6 b allele (Pde6bH620Q).
Davis RJ et al.
Investigative Ophthalmology & Visual Science, 2008
Two mouse retinal degenerations caused by missense mutations in the beta-subunit of rod cGMP phosphodiesterase gene.
Chang B et al.
Vision Research, 2007
Photoreceptor Protection by Mesencephalic Astrocyte-Derived Neurotrophic Factor (MANF).
Lu J et al.
Eneuro, 0