(Q36173078)

12 August 2017

RPGR-associated retinal degeneration in human X-linked RP and a murine model (English)

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12 August 2017

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12

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12 August 2017

Forbes D Manson

5

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Samuel G. Jacobson

object named as

Samuel G Jacobson

13

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James Wilson

object named as

James M Wilson

11

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Artur V Cideciyan

4

object named as

Artur V Cideciyan

1 reference

12 August 2017

7

Sharon B Schwartz

1 reference

12 August 2017

1

Wei Chieh Huang

1 reference

12 August 2017

9

Maria P Limberis

1 reference

12 August 2017

8

Sam Sadigh

1 reference

12 August 2017

Alan F Wright

2

1 reference

12 August 2017

Alejandro J Roman

3

1 reference

12 August 2017

Dina Y Gewaily

6

1 reference

12 August 2017

Peter Bell

10

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12 August 2017

language of work or name

English

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publication date

15 August 2012

1 reference

Investigative Ophthalmology Visual Science

12 August 2017

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12 August 2017

53

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12 August 2017

9

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12 August 2017

5594-5608

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describes a project that uses

12 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3422104/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Functional characterization of the human RPGR proximal promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Spatial correlation of mouse photoreceptor-RPE thickness between SD-OCT and histology

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Spectral domain optical coherence tomography in mouse models of retinal degeneration.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

ABCA4 disease progression and a proposed strategy for gene therapy

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Focus on Molecules: RPGR.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Clinical studies of X-linked retinitis pigmentosa in three Swedish families with newly identified mutations in the RP2 and RPGR-ORF15 genes

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Retinal degeneration mutants in the mouse

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3)

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Site-specific recombination of a transgene in fertilized eggs by transient expression of Cre recombinase.

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

X-linked retinitis pigmentosa

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Vision threshold profiles in X-linked retinitis pigmentosa

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene

1 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Dominant, gain-of-function mutant produced by truncation of RPGR.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Zebrafish Rpgr is required for normal retinal development and plays a role in dynein-based retrograde transport processes

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

RPGR mutation analysis and disease: an update.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Phototransduction, dark adaptation, and rhodopsin regeneration the proctor lecture.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

A randomized, placebo-controlled clinical trial of docosahexaenoic acid supplementation for X-linked retinitis pigmentosa.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Kinetics of visual field loss in Usher syndrome Type II.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Mutations in the RPGR gene cause X-linked cone dystrophy

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

An alternative phototransduction model for human rod and cone ERG a-waves: normal parameters and variation with age.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3422104

In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations

21 October 2018

1 reference

12 December 2020

Sex-linked retinitis pigmentosa: ultrastructure of photoreceptors and pigment epithelium

1 reference

12 December 2020

Natural course of retinitis pigmentosa over a three-year interval

1 reference

12 December 2020

Automated Light- and Dark- Adapted Perimetry for Evaluating Retinitis Pigmentosa

1 reference

12 December 2020

X-linked retinitis pigmentosa. Profile of clinical findings

1 reference

12 December 2020

1 reference

12 December 2020

Phenotypes in three Swedish families with X-linked retinitis pigmentosa caused by different mutations in the RPGR gene

1 reference

12 December 2020

Relation of optical coherence tomography to microanatomy in normal and rd chickens

1 reference

12 December 2020

UV- and midwave-sensitive cone-driven retinal responses of the mouse: a possible phenotype for coexpression of cone photopigments

1 reference

12 December 2020

Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.12-10070

1 reference

12 August 2017

1 reference

12 August 2017

PubMed publication ID

22807293

1 reference