Associated Papers
Measuring Rod- and Cone-Photoreceptor-Specific Vision in Inherited Retinal Diseases Using a Commercial Perimeter.
Wu V et al.
Investigative Ophthalmology & Visual Science, 2025
Structure-function analysis of CNGA3-associated achromatopsia patient variants complements clinical genomics in pathogenicity determination.
Rasmussen DK et al.
Orphanet Journal of Rare Diseases, 2025
40448196 (PubMed )
Supplement: 13023_2025_3792_MOESM1_ESM.pdf
Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing.
Reuter P et al.
Scientific Reports, 2023
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
Zobor D et al.
Investigative Ophthalmology & Visual Science, 2017
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.
Tanaka N et al.
Plos One, 2015
26407004 (PubMed )
Supplement: pone.0138943.s008.docx
Structure, dynamics and implied gating mechanism of a human cyclic nucleotide-gated channel.
Gofman Y et al.
Plos Computational Biology, 2014
25474149 (PubMed )
Supplement: pcbi.1003976.s013.pdf
Oligocone trichromacy: clinical and molecular genetic investigations.
Andersen MK et al.
Investigative Ophthalmology & Visual Science, 2010
Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel.
Muraki-Oda S et al.
Biochemical and Biophysical Research Communications, 2007
Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.
Patel KA et al.
Investigative Ophthalmology & Visual Science, 2005
Molecular basis of an inherited form of incomplete achromatopsia.
Tränkner D et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004
CNGA3 mutations in hereditary cone photoreceptor disorders.
Wissinger B et al.
American Journal of Human Genetics, 2001
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