Dog Models for Blinding Inherited Retinal Degenerations (Q38303717)

1 September 2017

title

Dog Models for Blinding Inherited Retinal Degenerations (English)

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1 September 2017

Simon Petersen-Jones

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1 September 2017

Andras M Komaromy

series ordinal

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1 September 2017

publication date

30 December 2014

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Human gene therapy. Clinical development

1 September 2017

published in

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Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration

1 September 2017

cites work

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12 December 2020

Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease

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12 December 2020

Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

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12 December 2020

Evaluation of a behavioral method for objective vision testing and identification of achromatopsia in dogs

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12 December 2020

Targeting gene expression to cones with human cone opsin promoters in recombinant AAV.

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12 December 2020

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

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12 December 2020

Eye movement recordings as an effectiveness indicator of gene therapy in RPE65-deficient canines: implications for the ocular motor system

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12 December 2020

In utero gene therapy rescues vision in a murine model of congenital blindness

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12 December 2020

Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.

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12 December 2020

Human cone photoreceptor dependence on RPE65 isomerase

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12 December 2020

Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa

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12 December 2020

The human visual cortex responds to gene therapy-mediated recovery of retinal function

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12 December 2020

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

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12 December 2020

Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy. A morphological study

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12 December 2020

Gene therapy in the second eye of RPE65-deficient dogs improves retinal function

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12 December 2020

Morphological aspects related to long-term functional improvement of the retina in the 4 years following rAAV-mediated gene transfer in the RPE65 null mutation dog

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12 December 2020

Restoration of vision in the pde6β-deficient dog, a large animal model of rod-cone dystrophy

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12 December 2020

Gene transfer in the RPE65 null mutation dog: relationship between construct volume, visual behavior and electroretinographic (ERG) results

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12 December 2020

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene

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12 December 2020

Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy

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12 December 2020

Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDE6B gene

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12 December 2020

Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation

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12 December 2020

Retinal pathology of canine X-linked progressive retinal atrophy, the locus homologue of RP3.

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12 December 2020

Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR

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12 December 2020

cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog

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12 December 2020

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.

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12 December 2020

Operating in the dark: a night-vision system for surgery in retinas susceptible to light damage

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12 December 2020

In vivo dynamics of retinal injury and repair in the rhodopsin mutant dog model of human retinitis pigmentosa

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12 December 2020

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness

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12 December 2020

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

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12 December 2020

Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer

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12 December 2020

Safety and efficacy of subretinal readministration of a viral vector in large animals to treat congenital blindness

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12 December 2020

Intra-retinal visual cycle required for rapid and complete cone dark adaptation.

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12 December 2020

Using the NAFX to measure the effectiveness over time of gene therapy in canine LCA

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12 December 2020

Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia

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12 December 2020

Structural Organization and Expression Pattern of the CanineRPGRIP1Isoforms in Retinal Tissue

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12 December 2020

A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations

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12 December 2020

Effect of gene therapy on visual function in Leber's congenital amaurosis

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12 December 2020

RPE65 gene therapy slows cone loss in Rpe65-deficient dogs

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12 December 2020

A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs

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12 December 2020

Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd)

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12 December 2020

Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2

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12 December 2020

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 trial

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12 December 2020

Progressive retinal atrophy in Schapendoes dogs: mutation of the newly identified CCDC66 gene

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12 December 2020

Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement

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12 December 2020

The cone dysfunction syndromes

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12 December 2020

Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65.

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12 December 2020

Canine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerations

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12 December 2020

Late-onset progressive retinal atrophy in the Gordon and Irish Setter breeds is associated with a frameshift mutation in C2orf71.

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12 December 2020

Assessment of structure and function over a 3-year period after gene transfer in RPE65-/- dogs

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12 December 2020

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation

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12 December 2020

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12 December 2020

Functional and structural recovery of the retina after gene therapy in the RPE65 null mutation dog.

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12 December 2020

AAV2 gene therapy readministration in three adults with congenital blindness.

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12 December 2020

A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund

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12 December 2020

Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans

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12 December 2020

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

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12 December 2020

Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium

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12 December 2020

Successful gene therapy in older Rpe65-deficient dogs following subretinal injection of an adeno-associated vector expressing RPE65.

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12 December 2020

An ADAM9 mutation in canine cone-rod dystrophy 3 establishes homology with human cone-rod dystrophy 9

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12 December 2020

Rod-cone dysplasia (progressive retinal atrophy) in Irish setters

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12 December 2020

Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration

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12 December 2020

A large animal model for CNGB1 autosomal recessive retinitis pigmentosa

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12 December 2020

Topographical characterization of cone photoreceptors and the area centralis of the canine retina

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12 December 2020

The Briard dog: a new animal model of congenital stationary night blindness

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12 December 2020

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.

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12 December 2020

Gene augmentation trials using the Rpe65-deficient dog: contributions towards development and refinement of human clinical trials.

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12 December 2020

Pathological and electrophysiological features of a canine cone-rod dystrophy in the miniature longhaired dachshund

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12 December 2020

Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia

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12 December 2020

Restoration of visual function by expression of a light-gated mammalian ion channel in retinal ganglion cells or ON-bipolar cells

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12 December 2020

Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.

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12 December 2020

Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.

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12 December 2020

Gene therapy rescues cone function in congenital achromatopsia

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12 December 2020

Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.

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12 December 2020

Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).

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12 December 2020

Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year

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12 December 2020

Gene therapy restores vision in a canine model of childhood blindness

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12 December 2020

Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.

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12 December 2020

Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.

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12 December 2020

Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection

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12 December 2020

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

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12 December 2020

Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.

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12 December 2020

Encapsulated cell-based delivery of CNTF reduces photoreceptor degeneration in animal models of retinitis pigmentosa.

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12 December 2020

Regulation of rod phototransduction machinery by ciliary neurotrophic factor

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12 December 2020

Safety and efficacy of gene transfer for Leber's congenital amaurosis

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12 December 2020

Exclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.

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12 December 2020

Leber congenital amaurosis: genes, proteins and disease mechanisms

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12 December 2020

Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years

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12 December 2020

An overview of Leber congenital amaurosis: a model to understand human retinal development

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12 December 2020

IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breeds

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12 December 2020

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

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12 December 2020

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

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12 December 2020

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

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12 December 2020

Functional and structural evaluation after AAV.RPE65 gene transfer in the canine model of Leber's congenital amaurosis

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12 December 2020

A naturally occurring mutation of the opsin gene (T4R) in dogs affects glycosylation and stability of the G protein-coupled receptor

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12 December 2020

Recombinant adeno-associated virus type 2-mediated gene delivery into the Rpe65-/- knockout mouse eye results in limited rescue

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12 December 2020

Ultrastructural changes of the retina and the retinal pigment epithelium in Briard dogs with hereditary congenital night blindness and partial day blindness

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12 December 2020

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients

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12 December 2020

Case 15-2009: a man with coma after cardiac arrest

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12 December 2020

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

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12 December 2020

Gene therapy restores vision-dependent behavior as well as retinal structure and function in a mouse model of RPE65 Leber congenital amaurosis

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12 December 2020

Vision 1 year after gene therapy for Leber's congenital amaurosis

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12 December 2020

Identifiers

DOI

10.1089/HUM.2014.155

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1 September 2017

25671556

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