Associated Papers
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
Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family.
Zhou X et al.
Frontiers in Genetics, 2024
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia.
Solaki M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.
Amaral RAS et al.
Genes, 2023
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia.
Solaki M et al.
Human Mutation, 2022
Identification of Chemical and Pharmacological Chaperones for Correction of Trafficking-Deficient Mutant Cyclic Nucleotide-Gated A3 Channels.
Täger J et al.
Molecular Pharmacology, 2021
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.
Sun W et al.
Molecular Vision, 2020
High-Throughput Ca2+ Flux Assay To Monitor Cyclic Nucleotide-Gated Channel Activity and Characterize Achromatopsia Mutant Channel Function.
Jacobson MA et al.
Acs Chemical Neuroscience, 2019
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.
Georgiou M et al.
Investigative Ophthalmology & Visual Science, 2019
From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.
Perera-Bel J et al.
Genome Medicine, 2018
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
Structure, dynamics and implied gating mechanism of a human cyclic nucleotide-gated channel.
Gofman Y et al.
Plos Computational Biology, 2014
Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.
Saqib MA et al.
Japanese Journal of Ophthalmology, 2011
The disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change.
Matveev AV et al.
Biochemistry, 2010
A mutation in gene CNGA3 is associated with day blindness in sheep.
Reicher S et al.
Genomics, 2010
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C).
Koeppen K et al.
The European Journal of Neuroscience, 2008