(Q34029081)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Samuel G. Jacobson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

author name string

James W Kijas

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Artur V Cideciyan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Tomas S Aleman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Susan E Pearce-Kelling

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Brian J Miller

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Gustavo D Aguirre

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Gregory M Acland

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

23 April 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

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

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

99

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

6328-6333

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

The biochemistry of the visual cycle

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Gene expression profiles of light-induced apoptosis in arrestin/rhodopsin kinase-deficient mouse retinas

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Rhodopsin: structural basis of molecular physiology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Fine mapping of canine XLPRA establishes homology of the human and canine RP3 intervals

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Adaptation in vertebrate photoreceptors.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Crystal structure of rhodopsin: A G protein-coupled receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Structure and function in rhodopsin: destabilization of rhodopsin by the binding of an antibody at the N-terminal segment provides support for involvement of the latter in an intradiscal tertiary structure

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Molecular genetics of human retinal disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Defects in G protein-coupled signal transduction in human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Structure and function in rhodopsin: correct folding and misfolding in point mutants at and in proximity to the site of the retinitis pigmentosa mutation Leu-125-->Arg in the transmembrane helix C.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Amplification and kinetics of the activation steps in phototransduction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Fetal topography of bovine rhodopsin mRNA suggests retinotopographically determined gene expression.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Dark-adaptation: A new hypothesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

The optics of comparative ophthalmoscopy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Total synthesis of a gene for bovine rhodopsin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Optical coherence tomography

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations

5 July 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

5 July 2018

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Gene therapy restores vision in a canine model of childhood blindness

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Light adaptation and dark adaptation of human rod photoreceptors measured from the a-wave of the electroretinogram.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Multiple phosphorylation of rhodopsin and the in vivo chemistry underlying rod photoreceptor dark adaptation

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Blue light's effects on rhodopsin: photoreversal of bleaching in living rat eyes.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Ribozyme rescue of photoreceptor cells in a transgenic rat model of autosomal dominant retinitis pigmentosa.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=122948

A Novel Retinal Degeneration Locus Identified by Linkage and Comparative Mapping of Canine Early Retinal Degeneration

29 October 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Regional Distribution of Retinal Degeneration in Patients with the Proline to Histidine Mutation in Codon 23 of the Rhodopsion Gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Autosomal Dominant Retinitis Pigmentosa Caused by the Threonine-17-Methionine Rhodopsin Mutation: Retinal Histopathology and Immunocytochemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Chemistry of Visual Adaptation in the Rat

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Frequency of the codon 807 mutation in the cGMP phosphodiesterase beta-subunit gene in Irish setters and other dog breeds with hereditary retinal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Investigation of the role of opsin gene polymorphism in generalized progressive retinal atrophies in dogs

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Diethylene glycol distearate (DGD): a versatile embedding medium for retinal cytochemistry

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Variation in retinal degeneration phenotype inherited at the prcd locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Anti-rhodopsin monoclonal antibodies of defined specificity: characterization and application

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

The involvement of rod photoreceptors in dark adaptation

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Molecular basis of dark adaptation in rod photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Topographical regulation of cone and rod opsin genes: parallel, position dependent levels of transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Missense rhodopsin mutation in a family with recessive RP

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

Novel rhodopsin mutation in an autosomal dominant retinitis pigmentosa family: phenotypic variation in both heterozygote and homozygote Val137Met mutant patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.082714499

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

21 January 2018

1 reference

12 December 2020

Light-induced acceleration of photoreceptor degeneration in transgenic mice expressing mutant rhodopsin

1 reference

12 December 2020

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Homozygous and heterozygous gly-188-Arg mutation of the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.082714499

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

0 references

release_ggrd3bez5rcutkzywhyyaqacza

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ggrd3bez5rcutkzywhyyaqacza

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11972042%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

1 reference