(Q37096060)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18303969%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

review article

1 reference

title

Inherited diseases of photoreceptors and prospects for gene therapy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18303969%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

main subject

gene therapy

0 references

photoreceptor protein

0 references

author

Joseph C. Corbo

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18303969%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

author name string

Cynthia L Montana

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18303969%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

language of work or name

1 reference

1 March 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18303969%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18303969%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18303969%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18303969%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

page(s)

335-347

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18303969%20AND%20SRC:MED&resulttype=core&format=json

Identifying retinal disease genes: how far have we come, how far do we have to go?

3 January 2020

cites work

1 reference

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Molecular genetics of human retinal disease

21 January 2018

1 reference

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Comprehensive analysis of photoreceptor gene expression and the identification of candidate retinal disease genes

21 January 2018

1 reference

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The cis-regulatory logic of the mammalian photoreceptor transcriptional network

21 January 2018

1 reference

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Gene therapy progress and prospects: the eye.

21 January 2018

1 reference

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Adeno-associated virus-vectored gene therapy for retinal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

AAV-mediated gene transfer for retinal diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Challenges in non-viral ocular gene transfer

21 January 2018

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21 January 2018

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Macular degeneration: recent advances and therapeutic opportunities.

21 January 2018

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Gene therapy for ocular neovascularization

21 January 2018

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Leber congenital amaurosis: a genetic paradigm

21 January 2018

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Usher syndrome: molecular links of pathogenesis, proteins and pathways

21 January 2018

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Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

21 January 2018

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Human photoreceptor topography

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

The retinal pigment epithelium in visual function

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

21 January 2018

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https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Molecular genetics and prospects for therapy of the inherited retinal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

The ABCR gene: a major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

The Cys214-->Ser mutation in peripherin/rds causes a loss-of-function phenotype in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

The nature of dominant mutations of rhodopsin and implications for gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Constitutive opsin signaling: night blindness or retinal degeneration?

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Photoreceptor degeneration in vitamin A deprivation and retinitis pigmentosa: the equivalent light hypothesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Why photoreceptors die (and why they don't).

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Evidence for two apoptotic pathways in light-induced retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Functional inactivation of genes by dominant negative mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

A typology of photoreceptor gene expression patterns in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

The presynaptic active zone protein RIM1alpha is critical for normal learning and memory

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

RIM function in short- and long-term synaptic plasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

The murine cone photoreceptor: a single cone type expresses both S and M opsins with retinal spatial patterning

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Identification and characterization of rod-derived cone viability factor

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Cell death in retinitis pigmentosa: gap junctions and the 'bystander' effect

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Nrl is required for rod photoreceptor development

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Clearance of apoptotic photoreceptors: elimination of apoptotic debris into the subretinal space and macrophage-mediated phagocytosis via phosphatidylserine receptor and integrin alphavbeta3

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Glial cells as intrinsic components of non-cell-autonomous neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

AAV-Mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

In vivo gene therapy in young and adult RPE65-/- dogs produces long-term visual improvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Regulatable gene expression systems for gene therapy applications: progress and future challenges

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Encapsidated adenovirus mini-chromosome-mediated delivery of genes to the retina: application to the rescue of photoreceptor degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Restoration of cone vision in a mouse model of achromatopsia

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

In vivo gene transfer to the mouse eye using an HIV-based lentiviral vector; efficient long-term transduction of corneal endothelium and retinal pigment epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Lentiviral vector-mediated gene transfer in adult mouse photoreceptors is impaired by the presence of a physical barrier

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Adenoviral-mediated gene transfer to retinal explants during development and degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Improved retinal transduction in vivo and photoreceptor-specific transgene expression using adenovirus vectors with modified penton base.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Improvement of neuronal visual responses in the superior colliculus in Prph2(Rd2/Rd2) mice following gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Prolonged recovery of retinal structure/function after gene therapy in an Rs1h-deficient mouse model of x-linked juvenile retinoschisis

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

AAV-mediated expression targeting of rod and cone photoreceptors with a human rhodopsin kinase promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

RNA interference-mediated suppression and replacement of human rhodopsin in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Kinetics of transgene expression in mouse retina following sub-retinal injection of recombinant adeno-associated virus

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Constitutive excitation by Gly90Asp rhodopsin rescues rods from degeneration caused by elevated production of cGMP in the dark.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

The Y99C mutation in guanylyl cyclase-activating protein 1 increases intracellular Ca2+ and causes photoreceptor degeneration in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Apoptotic cell death in retinal degenerations.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

AAV-mediated delivery of ciliary neurotrophic factor prolongs photoreceptor survival in the rhodopsin knockout mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Ciliary neurotrophic factor therapy for inherited retinal diseases: pros and cons

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Intraocular CNTF reduces vision in normal rats in a dose-dependent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Ciliary neurotrophic factor (CNTF) for human retinal degeneration: phase I trial of CNTF delivered by encapsulated cell intraocular implants

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Gene therapy restores vision in a canine model of childhood blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Restoration of vision in RPE65-deficient Briard dogs using an AAV serotype 4 vector that specifically targets the retinal pigmented epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Observed incidence of tumorigenesis in long-term rodent studies of rAAV vectors.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

AAV vector integration sites in mouse hepatocellular carcinoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Engineering targeted viral vectors for gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Directed evolution of adeno-associated virus yields enhanced gene delivery vectors

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Human blue-opsin promoter preferentially targets reporter gene expression to rat s-cone photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

Recombinant adeno-associated virus targets passenger gene expression to cones in primate retina

21 January 2018

1 reference

https://api.crossref.org/works/10.2217%2F14622416.9.3.335

21 January 2018

Identifiers

DOI

10.2217/14622416.9.3.335

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18303969%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

1 reference