Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy

scientific article

Human cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1089/HUM.2013.153
P932PMC publication ID3868405
P698PubMed publication ID24067079
P5875ResearchGate publication ID257073516

P50authorSamuel G. JacobsonQ42410256
Susanne KohlQ47502299
Robert B HufnagelQ55712686
Alison HardcastleQ60130903
Alfredo DubraQ62348869
Bernd WissingerQ89237484
Anthony T MooreQ91200875
Michel MichaelidesQ96350250
P2093author name stringJessica C Gardner
Joseph Carroll
Zubair M Ahmed
Artur V Cideciyan
Xunda Luo
Sharon B Schwartz
Alexander Sumaroka
Robert A Sisk
Megan Land
P2860cites workVisual function and cortical organization in carriers of blue cone monochromacyQ21133643
Molecular genetics of human color vision: the genes encoding blue, green, and red pigmentsQ24294339
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trialQ24608049
The genetics of normal and defective color visionQ24619510
Safety and efficacy of gene transfer for Leber's congenital amaurosisQ24634724
Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)Q28218593
Molecular genetics of inherited variation in human color visionQ28298993
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degenerationQ30464083
Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.Q30494855
Imaging outer segment renewal in living human cone photoreceptors.Q30501041
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 yearsQ30537764
High-resolution images of retinal structure in patients with choroideremiaQ31110626
Structure of cone photoreceptorsQ33462272
Photoaversion in retinitis pigmentosaQ33646970
Characterization of outer retinal morphology with high-speed, ultrahigh-resolution optical coherence tomographyQ33755559
Biochemistry of visual pigment regeneration: the Friedenwald lecture.Q33835539
Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.Q33869486
Retinoids for treatment of retinal diseasesQ33901076
Low amplification and fast visual pigment phosphorylation as mechanisms characterizing cone photoresponsesQ33950330
Rod-derived cone viability factor for treating blinding diseases: from clinic to redox signalingQ33960294
Human photoreceptor topographyQ34034782
Variable retinal phenotypes caused by mutations in the X-linked photopigment gene arrayQ34103304
Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaicQ34126522
Rhodopsin expression level affects rod outer segment morphology and photoresponse kineticsQ34291345
Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.Q34311666
Rhodopsin signaling and organization in heterozygote rhodopsin knockout miceQ34313774
Functional photoreceptor loss revealed with adaptive optics: an alternate cause of color blindnessQ34321474
A locus control region adjacent to the human red and green visual pigment genesQ34332831
Characterization of a novel form of X-linked incomplete achromatopsiaQ34363739
Molecular genetics of human blue cone monochromacyQ34545933
Distribution and morphology of human cone photoreceptors stained with anti-blue opsinQ34601678
Probing mechanisms of photoreceptor degeneration in a new mouse model of the common form of autosomal dominant retinitis pigmentosa due to P23H opsin mutationsQ34695879
Targeting photoreceptors via intravitreal delivery using novel, capsid-mutated AAV vectorsQ34700925
Imaging cone photoreceptors in three dimensions and in time using ultrahigh resolution optical coherence tomography with adaptive opticsQ34769168
A mouse M-opsin monochromat: retinal cone photoreceptors have increased M-opsin expression when S-opsin is knocked outQ34773359
Distinct and atypical intrinsic and extrinsic cell death pathways between photoreceptor cell types upon specific ablation of Ranbp2 in cone photoreceptors.Q34789382
Morphological, physiological, and biochemical changes in rhodopsin knockout miceQ34853562
Revealing Henle's Fiber Layer Using Spectral Domain Optical Coherence TomographyQ35005846
Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscopeQ35088925
Spatial and temporal variation of rod photoreceptor reflectance in the human retinaQ35253841
C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosaQ35603676
Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in manQ35678097
Histologic development of the human fovea from midgestation to maturityQ36432237
Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and modelQ36746902
Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerationsQ36965608
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.Q37278370
The cone-specific visual cycleQ37812794
The spectral sensitivity of the human short-wavelength sensitive cones derived from thresholds and color matchesQ41691307
The development of parafoveal and mid-peripheral human retinaQ42455245
A qualitative and quantitative analysis of the human fovea during developmentQ42525565
A novel middle-wavelength opsin (M-opsin) null-mutation in the retinal cone dysfunction rat.Q43108245
Reorganization of human cortical maps caused by inherited photoreceptor abnormalities.Q43933586
In vivo-directed evolution of a new adeno-associated virus for therapeutic outer retinal gene delivery from the vitreousQ45350780
Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.Q45990056
Foveal cavitation as an optical coherence tomography finding in central cone dysfunctionQ46647199
Organization of the human trichromatic cone mosaic.Q46764062
The ultrastructure of monkey foveal photoreceptors, with special reference to the structure, shape, size, and spacing of the foveal conesQ47290341
The murine cone photoreceptor: a single cone type expresses both S and M opsins with retinal spatial patterningQ47818507
X-linked incomplete achromatopsia with more than one class of functional cones.Q50929343
Retinopathy induced in mice by targeted disruption of the rhodopsin geneQ73040800
Histopathology of the human retina in retinitis pigmentosaQ77057686
P433issue12
P921main subjectgene therapyQ213901
photoreceptor proteinQ7187894
P304page(s)993-1006
P577publication date2013-10-30
P1433published inHuman Gene TherapyQ15757580
P1476titleHuman cone visual pigment deletions spare sufficient photoreceptors to warrant gene therapy
P478volume24

Reverse relations

cites work (P2860)
Q55483566A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report.
Q36830639ASSESSING PHOTORECEPTOR STRUCTURE ASSOCIATED WITH ELLIPSOID ZONE DISRUPTIONS VISUALIZED WITH OPTICAL COHERENCE TOMOGRAPHY.
Q46250842Adaptive optics imaging of inherited retinal diseases.
Q26799471Advances in understanding the molecular basis of the first steps in color vision
Q35682509Autofluorescence imaging with near-infrared excitation:normalization by reflectance to reduce signal from choroidal fluorophores.
Q52728747BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.
Q34473512Blue cone monochromacy: visual function and efficacy outcome measures for clinical trials
Q92525966Cellular imaging of inherited retinal diseases using adaptive optics
Q34428354Changes in outer retinal microstructures during six month period in eyes with acute zonal occult outer retinopathy-complex
Q37275303Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations.
Q37142003Cone Photoreceptor Structure in Patients With X-Linked Cone Dysfunction and Red-Green Color Vision Deficiency.
Q34400265Curing color blindness--mice and nonhuman primates
Q34323173Dark-adaptation functions in molecularly confirmed achromatopsia and the implications for assessment in retinal therapy trials.
Q91882984Deep Phenotyping of PDE6C-Associated Achromatopsia
Q37055754Developing an Outcome Measure With High Luminance for Optogenetics Treatment of Severe Retinal Degenerations and for Gene Therapy of Cone Diseases
Q38680672EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression
Q36981680Evaluating Descriptive Metrics of the Human Cone Mosaic
Q50086506FREQUENT SUBCLINICAL MACULAR CHANGES IN COMBINED BRAF/MEK INHIBITION WITH HIGH-DOSE HYDROXYCHLOROQUINE AS TREATMENT FOR ADVANCED METASTATIC BRAF MUTANT MELANOMA: Preliminary Results From a Phase I/II Clinical Treatment Trial
Q41159206Gene-based Therapy in a Mouse Model of Blue Cone Monochromacy.
Q96344655Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period
Q34531205Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health
Q47547418Human L- and M-opsins restore M-cone function in a mouse model for human blue cone monochromacy
Q42280652Imaging Lenticular Autofluorescence in Older Subjects
Q33892926In vivo imaging of human cone photoreceptor inner segments.
Q90152961Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
Q58595463New clinical ultrahigh-resolution SD-OCT using A-scan matching algorithm
Q47099707Non-invasive assessment of human cone photoreceptor function.
Q35740318Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrast
Q34243600Outer retinal structure after closed-globe blunt ocular trauma.
Q41643474Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
Q47140443Photoreceptor disruption and vision loss associated with central serous retinopathy
Q91792048Prevalence and gene frequency of color vision impairments among children of six populations from North Indian region
Q40037684Quantitative Assessment of Microstructural Changes of the Retina in Infants With Congenital Zika Syndrome
Q93009388Rescue of M-cone Function in Aged Opn1mw-/- Mice, a Model for Late-Stage Blue Cone Monochromacy
Q58805549Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations
Q37161357Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia
Q98158710Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations
Q36086392TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones
Q41225313The cone dysfunction syndromes
Q34435751Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants

Search more.