Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa (Q36520157)

14 August 2017

Deficiency of rds/peripherin causes photoreceptor death in mouse models of digenic and dominant retinitis pigmentosa (English)

1 reference

14 August 2017

photoreceptor protein

0 references

1 reference

W Kedzierski

1

1 reference

14 August 2017

S Nusinowitz

2

1 reference

14 August 2017

D Birch

3

1 reference

14 August 2017

G Clarke

4

1 reference

14 August 2017

R R McInnes

5

1 reference

14 August 2017

D Bok

6

1 reference

14 August 2017

G H Travis

7

1 reference

14 August 2017

language of work or name

English

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publication date

26 June 2001

1 reference

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

14 August 2017

1 reference

14 August 2017

98

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14 August 2017

14

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14 August 2017

7718-7723

1 reference

Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Mechanisms of cell death in the inherited retinal degenerations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Molecular cloning, membrane topology, and localization of bovine rom-1 in rod and cone photoreceptor cells.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Retinal degeneration slow (rds) in mouse results from simple insertion of a t haplotype-specific element into protein-coding exon II.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Extensive intrafamilial and interfamilial phenotypic variation among patients with autosomal dominant retinal dystrophy and mutations in the human RDS/peripherin gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Cloning of the CDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Defective phototransductive disk membrane morphogenesis in transgenic mice expressing opsin with a mutated N-terminal domain.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

A new H-2-linked mutation, rds, causing retinal degeneration in the mouse

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration

28 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Human cone receptor activity: the leading edge of the a-wave and models of receptor activity.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=35408

Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop)

21 September 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

The role of the peripherin/RDS gene in retinal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Absence of receptor outer segments in the retina of rds mutant mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Analysis of the rds/peripherin.rom1 complex in transgenic photoreceptors that express a chimeric protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Transgenic analysis of rds/peripherin N-glycosylation: effect on dimerization, interaction with rom1, and rescue of the rds null phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

A quantitative account of the activation steps involved in phototransduction in amphibian photoreceptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Retinopathy induced in mice by targeted disruption of the rhodopsin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Heterozygous 'null allele' mutation in the human peripherin/RDS gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.141124198

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11427722

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Generation and analysis of transgenic mice expressing P216L-substituted rds/peripherin in rod photoreceptors

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11427722

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.141124198

1 reference

14 August 2017

0 references

1 reference

14 August 2017

PubMed publication ID

11427722

1 reference