Associated Papers
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
39462066 (PubMed )
Supplement: 41598_2024_77014_MOESM2_ESM.xlsx › solved_patients
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
38927562 (PubMed )
Supplement: biomedicines-12-01355-s001.zip › Table_S2_Patients_and_variants.xlsx › merged_variants_and_patients_co
Grk1 Missense Mutations in Type II Oguchi Disease: A Literature Review.
Margo TE et al.
Annals of Biomedical Research, 2024
New variants and in silico analyses in GRK1 associated Oguchi disease.
Poulter JA et al.
Human Mutation, 2021
Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.
Ballios BG et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
Godara P et al.
American Journal of Ophthalmology, 2012
Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene.
Hayashi T et al.
Ophthalmic Research, 2011
A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
Azam M et al.
Molecular Vision, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
Structures of rhodopsin kinase in different ligand states reveal key elements involved in G protein-coupled receptor kinase activation.
Singh P et al.
The Journal of Biological Chemistry, 2008
Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
Oishi A et al.
American Journal of Ophthalmology, 2007
A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
Hayashi T et al.
Ophthalmology, 2007
Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness.
Khani SC et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness.
Yamamoto S et al.
Nature Genetics, 1997
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