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References from Gene therapy rescues cone function in opn1mw−/−/opn1sw−/−/Nrl−/− mice, an all-cone model of blue cone monochromacy. Local targets link to admitted publications; unresolved targets remain external evidence.
Molecular genetics of human color vision: the genes encoding blue, green, and red pigments
10.1126/science.2937147 · 1986 · External reference
Distribution and morphology of human cone photoreceptors stained with anti-blue opsin
10.1002/cne.903120411 · 1991 · External reference
Structure of cone photoreceptors
10.1016/j.preteyeres.2009.05.003 · 2009 · External reference
Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals
10.1038/sj.eye.6701391 · 2005 · External reference
The cone dysfunction syndromes
10.1136/bjo.2003.027102 · 2004 · External reference
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic
10.1167/iovs.12-11087 · 2012 · External reference
Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic
10.1016/j.visres.2010.07.009 · 2010 · External reference
Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
10.1089/hum.2013.153 · 2013 · External reference
Blue cone monochromacy: causative mutations and associated phenotypes
2009 · External reference
Mutation of a conserved cysteine in the X-linked cone opsins causes color vision deficiencies by disrupting protein folding and stability
1997 · External reference
Molecular genetics of human blue cone monochromacy
10.1126/science.2788922 · 1989 · External reference
Role of a locus control region in the mutually exclusive expression of human red and green cone pigment genes
10.1073/pnas.022629799 · 2002 · External reference
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
10.1038/srep28253 · 2016 · External reference
Achromatopsia
1993 · External reference
Genetic heterogeneity among blue-cone monochromats
1993 · External reference
Gene Therapy in Opn1mw(-/-)/Opn1sw(-/-) Mice and Implications for Blue Cone Monochromacy Patients with Deletion Mutations
10.1089/hum.2021.298 · 2022 · External reference
Nrl is required for rod photoreceptor development
10.1038/ng774 · 2001 · External reference
Physiological features of the S- and M-cone photoreceptors of wild-type mice from single-cell recordings
10.1085/jgp.200609490 · 2006 · External reference
Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype
2018 · External reference
Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy
10.1371/journal.pone.0092928 · 2014 · External reference
Arrestin 1 and Cone Arrestin 4 Have Unique Roles in Visual Function in an All-Cone Mouse Retina
10.1167/iovs.15-17832 · 2015 · External reference
Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation
10.1096/fj.201600511r · 2016 · External reference
Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1
10.1089/hum.2015.053 · 2015 · External reference
Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia
2015 · External reference
RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice
10.1167/iovs.06-0652 · 2007 · External reference
High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors
10.1038/mt.2008.269 · 2009 · External reference
Preservation of cone photoreceptors after a rapid yet transient degeneration and remodeling in cone-only Nrl-/- mouse retina
10.1523/jneurosci.3591-11.2012 · 2012 · External reference
Restoration of cone vision in a mouse model of achromatopsia
10.1038/nm1596 · 2007 · External reference
Cone-Specific Promoters for Gene Therapy of Achromatopsia and Other Retinal Diseases
10.1089/hum.2015.130 · 2016 · External reference
Cone outer segment morphology and cone function in the Rpe65-/- Nrl-/- mouse retina are amenable to retinoid replacement
10.1167/iovs.08-3008 · 2009 · External reference
Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy
10.1016/j.bbadis.2011.10.007 · 2012 · External reference
Effect of Rds abundance on cone outer segment morphogenesis, photoreceptor gene expression, and outer limiting membrane integrity
10.1002/cne.21476 · 2007 · External reference
Differential composition of DHA and very-long-chain PUFAs in rod and cone photoreceptors
10.1194/jlr.m082495 · 2018 · External reference
The role of epigenetic methylation/demethylation in the regulation of retinal photoreceptors
10.3389/fcell.2023.1149132 · 2023 · External reference
Cell-specific DNA methylation patterns of retina-specific genes
10.1371/journal.pone.0032602 · 2012 · External reference
Genome-wide Profiling Identifies DNA Methylation Signatures of Aging in Rod Photoreceptors Associated with Alterations in Energy Metabolism
10.1016/j.celrep.2020.107525 · 2020 · External reference
The lipid elongation enzyme ELOVL2 is a molecular regulator of aging in the retina
10.1111/acel.13100 · 2020 · External reference
Multiple Roles of cAMP in Vertebrate Retina
10.3390/cells12081157 · 2023 · External reference
The cGMP Pathway and Inherited Photoreceptor Degeneration: Targets, Compounds, and Biomarkers
10.3390/genes10060453 · 2019 · External reference
Metabolism Dysregulation in Retinal Diseases and Related Therapies
2022 · External reference
Blue cone monochromacy and gene therapy
10.1016/j.visres.2023.108221 · 2023 · External reference
Proline modulates the intracellular redox environment and protects mammalian cells against oxidative stress
10.1016/j.freeradbiomed.2007.10.054 · 2008 · External reference
Proline metabolism and redox; maintaining a balance in health and disease
10.1007/s00726-021-03051-2 · 2021 · External reference
Proline mediates metabolic communication between retinal pigment epithelial cells and the retina
10.1074/jbc.ra119.007983 · 2019 · External reference
Tissue-Specific Sex Difference in Mouse Eye and Brain Metabolome Under Fed and Fasted States
10.1167/iovs.64.3.18 · 2023 · External reference
Isocitrate dehydrogenase 3b is required for spermiogenesis but dispensable for retinal viability
10.1016/j.jbc.2022.102387 · 2022 · External reference
Cone-specific expression using a human red opsin promoter in recombinant AAV
10.1016/j.visres.2007.07.026 · 2008 · External reference
Production and purification of serotype 1, 2, and 5 recombinant adeno-associated viral vectors
10.1016/s1046-2023(02)00220-7 · 2002 · External reference
Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation
10.1172/jci.insight.172834 · 2024 · External reference
Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium
10.1016/j.exer.2021.108899 · 2022 · External reference
