A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3) (Q24676561)

Rhodopsin

1 reference

Opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)

1 reference

Cyclic nucleotide gated channel alpha 1

1 reference

Opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)

1 reference

Arrestin 3, retinal

1 reference

1 reference

D H Hong

1

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B S Pawlyk

2

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J Shang

3

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M A Sandberg

4

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E L Berson

5

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T Li

Proceedings of the National Academy of Sciences of the United States of America

6

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language of work or name

English

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publication date

28 March 2000

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published in

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volume

97

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issue

7

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page(s)

3649-54

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cites work

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

1 reference

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Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

7 April 2017

1 reference

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Myosin VIIa participates in opsin transport through the photoreceptor cilium

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16294

Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16294

X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60

7 April 2017

1 reference

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Biochemical characterization and subcellular localization of the mouse retinitis pigmentosa GTPase regulator (mRpgr)

7 April 2017

1 reference

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16294

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=16294

Nucleocytoplasmic transport

7 April 2017

1 reference

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Phenotype of an X-linked retinitis pigmentosa family with a novel splice defect in the RPGR gene

7 April 2017

1 reference

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Effect of vitamin A supplementation on rhodopsin mutants threonine-17 --> methionine and proline-347 --> serine in transgenic mice and in cell cultures

28 September 2017

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28 September 2017

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Dicistronic targeting constructs: reporters and modifiers of mammalian gene expression.

28 September 2017

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Maps from two interspecific backcross DNA panels available as a community genetic mapping resource

28 September 2017

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Gamma-tubulin in differentiated cell types: localization in the vicinity of basal bodies in retinal photoreceptors and ciliated epithelia.

28 September 2017

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Relationship of oscillatory potential amplitude to A-wave slope over a range of flash luminances in normal subjects

30 May 2018

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Unique topographic separation of two spectral classes of cones in the mouse retina

30 May 2018

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Increased incidence of abnormal nasal cilia in patients with retinitis pigmentosa

30 May 2018

1 reference

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Photoreceptor membrane proteins, phototransduction, and retinal degenerative diseases. The Friedenwald Lecture.

30 May 2018

1 reference

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Rod phototransduction in retinitis pigmentosa: estimation and interpretation of parameters derived from the rod a-wave.

28 November 2018

1 reference

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A sequence upstream of the mouse blue visual pigment gene directs blue cone-specific transgene expression in mouse retinas.

28 November 2018

1 reference

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Expression of phototransduction cascade genes in the ground squirrel retina.

28 November 2018

1 reference

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Rod and cone responses in sex-linked retinitis pigmentosa

28 November 2018

1 reference

12 December 2020

Risk Factors for Genetic Typing and Detection in Retinitis Pigmentosa

1 reference

12 December 2020

Distribution of membrane proteins in mechanically dissociated retinal rods

1 reference

12 December 2020

A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities

1 reference

12 December 2020

Properties of the mouse cone-mediated electroretinogram during light adaptation

1 reference

12 December 2020

Overexpression of Bcl-2 or Bcl-XL transgenes and photoreceptor degeneration

1 reference

12 December 2020

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene

1 reference

12 December 2020

X-linked Retinitis Pigmentosa Associated With a 2-Base Pair Insertion in Codon 99 of the RP3 Gene RPGR

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.060037497

1 reference

170079

170079

1 reference

1 reference

1 reference