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Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci

Human molecular genetics, 2023-06, Vol.32 (13), p.2139-2151

2023

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Krabbe disease successfully treated via monotherapy of intrathecal gene therapy

The Journal of clinical investigation, 2020-09, Vol.130 (9), p.4906-4920

2020

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Recent advances in the understanding of cilia mechanisms and their applications as therapeutic targets

Frontiers in molecular biosciences, 2023-09, Vol.10, p.1232188-1232188

2023

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CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs

Scientific reports, 2020-12, Vol.10 (1), p.21162-21162, Article 21162

2020

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Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies

Mammalian genome, 2012-02, Vol.23 (1-2), p.40-61

2012

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Editorial: Primary cilia as therapeutic targets

Frontiers in molecular biosciences, 2023, Vol.10, p.1322873

2023

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Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1 -associated cone-rod dystrophy

Frontiers in cellular neuroscience, 2023-08, Vol.17, p.1226603

2023

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Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration

Mammalian genome, 2016-06, Vol.27 (5-6), p.237-245

2016

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Mapping of Canine Models of Inherited Retinal Diseases

Advances in experimental medicine and biology, 2018, Vol.1074, p.257-264

2018

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Inherited retinal diseases in dogs: advances in gene/mutation discovery

Dobutsu iden ikushu kenkyu = Journal of animal genetics, 2014-01, Vol.42 (2), p.79-89

MIYADERA, Keiko

2014

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A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness

PloS one, 2015-09, Vol.10 (9), p.e0137072-e0137072

2015

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Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment

PloS one, 2015-09, Vol.10 (9), p.e0138943-e0138943

2015

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Canine inherited retinal degeneration as model to study disease mechanisms and therapy for ciliopathies

Folia Pharmacologica Japonica, 2024/07/01, Vol.159(4), pp.192-197

2024

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Canine inherited retinal degeneration as model to study disease mechanisms and therapy for ciliopathies

Folia Pharmacologica Japonica, 2024, pp.23071

2024

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Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy

PloS one, 2012-12, Vol.7 (12), p.e51598-e51598

2012

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Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness

Vision research (Oxford), 2023-08, Vol.209, p.108260-108260, Article 108260

2023

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Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant

Veterinary ophthalmology, 2024-10

2024

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Intrastromal Gene Therapy Prevents and Reverses Advanced Corneal Clouding in a Canine Model of Mucopolysaccharidosis I

Molecular therapy, 2020-06, Vol.28 (6), p.1455-1463

2020

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An insertion mutation of the bovine F11 gene is responsible for factor XI deficiency in Japanese black cattle

Mammalian genome, 2005-05, Vol.16 (5), p.383-389

2005

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Novel insights into chorioretinal and juxtapapillary colobomas by optical coherence tomography

Veterinary ophthalmology, 2022-05, Vol.25 (S1), p.136-143

2022

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Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3 -congenital stationary night blindness

Proceedings of the National Academy of Sciences - PNAS, 2022-03, Vol.119 (13), p.e2117038119-e2117038119

2022

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Monocular retinopathy of prematurity‐like retinal vasculopathy in a dog

Veterinary ophthalmology, 2022-01, Vol.25 (1), p.78-84

2022

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Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy

Molecular therapy, 2024-01, Vol.32 (1), p.44-58

2024

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A naturally occurring canine model of syndromic congenital microphthalmia

G3 : genes - genomes - genetics, 2024-04, Vol.14 (6)

2024

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Clinical descriptive and long-term outcome of melanocytic uveal lesions in young dogs: 40 cases (45 eyes) including 13 cases of sector iridectomy

Veterinary ophthalmology, 2024-07

2024

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Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci

Krabbe disease successfully treated via monotherapy of intrathecal gene therapy

Recent advances in the understanding of cilia mechanisms and their applications as therapeutic targets

CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs

Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies

Editorial: Primary cilia as therapeutic targets

Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1 -associated cone-rod dystrophy

Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration

Mapping of Canine Models of Inherited Retinal Diseases

Inherited retinal diseases in dogs: advances in gene/mutation discovery

A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness

Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment

Canine inherited retinal degeneration as model to study disease mechanisms and therapy for ciliopathies

Canine inherited retinal degeneration as model to study disease mechanisms and therapy for ciliopathies

Multiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy

Extended functional rescue following AAV gene therapy in a canine model of LRIT3-congenital stationary night blindness

Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant

Intrastromal Gene Therapy Prevents and Reverses Advanced Corneal Clouding in a Canine Model of Mucopolysaccharidosis I

An insertion mutation of the bovine F11 gene is responsible for factor XI deficiency in Japanese black cattle

Novel insights into chorioretinal and juxtapapillary colobomas by optical coherence tomography

Targeting ON-bipolar cells by AAV gene therapy stably reverses LRIT3 -congenital stationary night blindness

Monocular retinopathy of prematurity‐like retinal vasculopathy in a dog

Combination HSCT and intravenous AAV-mediated gene therapy in a canine model proves pivotal for translation of Krabbe disease therapy

A naturally occurring canine model of syndromic congenital microphthalmia

Clinical descriptive and long-term outcome of melanocytic uveal lesions in young dogs: 40 cases (45 eyes) including 13 cases of sector iridectomy

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