Associated Papers
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders.
Brotherton C et al.
Genes, 2024
Biology, Pathobiology and Gene Therapy of CNG Channel-Related Retinopathies.
Gerhardt MJ et al.
Biomedicines, 2023
Achromatopsia: Genetics and Gene Therapy.
Michalakis S et al.
Molecular Diagnosis & Therapy, 2022
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N et al.
Human Mutation, 2020
A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3.
Hassall MM et al.
Investigative Ophthalmology & Visual Science, 2018
Retinal Cyclic Nucleotide-Gated Channels: From Pathophysiology to Therapy.
Michalakis S et al.
International Journal of Molecular Sciences, 2018
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.
Mayer AK et al.
Human Mutation, 2017
Structure, dynamics and implied gating mechanism of a human cyclic nucleotide-gated channel.
Gofman Y et al.
Plos Computational Biology, 2014
Gene replacement therapy for retinal CNG channelopathies.
Schön C et al.
Molecular Genetics and Genomics : Mgg, 2013
Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
Doucette L et al.
Ophthalmic Genetics, 2013
CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.
Khan NW et al.
Investigative Ophthalmology & Visual Science, 2007
Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.
Liu C et al.
American Journal of Physiology. Cell Physiology, 2005
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S et al.
European Journal of Human Genetics : Ejhg, 2005
Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function.
Okada A et al.
Investigative Ophthalmology & Visual Science, 2004
Progressive cone dystrophy associated with mutation in CNGB3.
Michaelides M et al.
Investigative Ophthalmology & Visual Science, 2004
The cone dysfunction syndromes.
Michaelides M et al.
The British Journal of Ophthalmology, 2004
Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.
Peng C et al.
The Journal of Biological Chemistry, 2003
Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
Kohl S et al.
Human Molecular Genetics, 2000
Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.
Goto-Omoto S et al.
Visual Neuroscience, 0