(Q37822729)

23 August 2017

1 reference

title

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

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23 August 2017

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photoreceptor protein

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1 reference

Jutta Hosch

1

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23 August 2017

Birgit Lorenz

series ordinal

2

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23 August 2017

Knut Stieger

series ordinal

3

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23 August 2017

language of work or name

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21 December 2010

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23 August 2017

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23 August 2017

32

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23 August 2017

1

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23 August 2017

1-11

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The dynamic cilium in human diseases

23 August 2017

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Development and disease of the photoreceptor cilium.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

When cilia go bad: cilia defects and ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

The renewal of photoreceptor cell outer segments

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Focus on Molecules: RPGR.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Role of the nuclear transport factor p10 in nuclear import.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

A motility in the eukaryotic flagellum unrelated to flagellar beating

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Intraflagellar transport: the eyes have it

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

The delta subunit of type 6 phosphodiesterase reduces light-induced cGMP hydrolysis in rod outer segments

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

SMC proteins and chromosome structure.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Functional genomics of the cilium, a sensory organelle

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

X-linked recessive atrophic macular degeneration from RPGR mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Phenotype in two families with RP3 associated with RPGR mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

A modified ERG technique and the results obtained in X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Structural assessment of hyperautofluorescent ring in patients with retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

RPGR mutation analysis and disease: an update.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

Intravitreal injection of ciliary neurotrophic factor (CNTF) causes peripheral remodeling and does not prevent photoreceptor loss in canine RPGR mutant retina

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2010.535889

10.3109/13816810.2010.535889

21 January 2018

Identifiers

DOI

1 reference

23 August 2017

1 reference