Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model (Q35221208)

7 August 2017

title

Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse model (English)

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7 August 2017

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Geoffrey Karl Aguirre

Geoffrey K Aguirre

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Samuel G Jacobson

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Edwin M Stone

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James M Wilson

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Artur V Cideciyan

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7 August 2017

Alexander Sumaroka

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7 August 2017

Sharon B Schwartz

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7 August 2017

Wei Chieh Huang

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7 August 2017

Maria P Limberis

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7 August 2017

Tomas S Aleman

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7 August 2017

Cristina L Mullins

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7 August 2017

Alejandro J Roman

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7 August 2017

Melani B Olivares

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7 August 2017

Frank F Tsai

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7 August 2017

Luk H Vandenberghe

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7 August 2017

Peter Bell

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7 August 2017

language of work or name

English

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publication date

29 August 2011

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Investigative Ophthalmology Visual Science

7 August 2017

published in

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7 August 2017

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7 August 2017

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7 August 2017

page(s)

6898-6910

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Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

7 August 2017

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Targeted disruption of outer limiting membrane junctional proteins (Crb1 and ZO-1) increases integration of transplanted photoreceptor precursors into the adult wild-type and degenerating retina.

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13 July 2018

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13 July 2018

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Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.

13 July 2018

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

13 July 2018

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Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

13 July 2018

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In vivo three-dimensional high-resolution imaging of rodent retina with spectral-domain optical coherence tomography

13 July 2018

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A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1.

13 July 2018

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RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression

13 July 2018

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Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cells

13 July 2018

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In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development

13 July 2018

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Retinal remodeling during retinal degeneration.

13 July 2018

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Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

13 July 2018

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Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene

13 July 2018

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Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure

13 July 2018

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13 July 2018

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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina

13 July 2018

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Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

13 July 2018

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Mutations in the CRB1 gene cause Leber congenital amaurosis

13 July 2018

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13 July 2018

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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

13 July 2018

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Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa

13 July 2018

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13 July 2018

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13 July 2018

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Thick visual cortex in the early blind.

26 September 2018

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Lagrangian frame diffeomorphic image registration: Morphometric comparison of human and chimpanzee cortex

26 September 2018

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Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures

26 September 2018

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Long-term deprivation affects visual perception and cortex

26 September 2018

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26 September 2018

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26 September 2018

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26 September 2018

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26 September 2018

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Optical Coherence Tomography (OCT) Abnormalities in rhodopsin Mutant Transgenic Swine with Retinal Degeneration

26 September 2018

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Autosomal recessive retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium

15 November 2018

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Crb1 is a determinant of retinal apical Müller glia cell features

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12 December 2020

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12 December 2020

Histopathology of bone spicule pigmentation in retinitis pigmentosa

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Identifiers

DOI

10.1167/IOVS.11-7701

1 reference

7 August 2017

1 reference

7 August 2017

1 reference