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
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D et al.
Jama Network Open, 2024
38819824 (PubMed )
Supplement: jamanetwopen-e2414198-s001.pdf
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S10-Mono-allelic_variants_in_probands_considered_not_solved.xlsx › Sheet1
A new mutation in the PDE6C gene in achromatopsia.
Jiménez-Siles L et al.
European Journal of Ophthalmology, 2023
Clinical and Genetic Features of Korean Patients with Achromatopsia.
Choi YJ et al.
Genes, 2023
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.
Daich Varela M et al.
Investigative Ophthalmology & Visual Science, 2020
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.
Weisschuh N et al.
Human Mutation, 2018
Mechanisms of mutant PDE6 proteins underlying retinal diseases.
Gopalakrishna KN et al.
Cellular Signalling, 2017
Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.
Cheguru P et al.
Molecular and Cellular Neurosciences, 2015
Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.
Grau T et al.
Human Molecular Genetics, 2011
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
Thiadens AA et al.
American Journal of Human Genetics, 2009
Two Novel Disease-Causing Variants in the PDE6C Gene Underlying Achromatopsia.
Madeira C et al.
Case Reports in Ophthalmology, 0
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