Retinitis pigmentosa: defined from a molecular point of view (Q33534644)

27 July 2017

title

Retinitis pigmentosa: defined from a molecular point of view (English)

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27 July 2017

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van Soest S

1

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27 July 2017

Westerveld A

2

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27 July 2017

de Jong PT

3

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27 July 2017

Bleeker-Wagemakers EM

4

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27 July 2017

Bergen AA

5

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27 July 2017

publication date

1 January 1999

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27 July 2017

published in

Survey of Ophthalmology

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27 July 2017

volume

43

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27 July 2017

issue

4

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27 July 2017

page(s)

321-334

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publication type of scholarly work

27 July 2017

review article

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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

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Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19

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7 January 2021

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

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7 January 2021

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

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7 January 2021

The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)

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7 January 2021

TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

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7 January 2021

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

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7 January 2021

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

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7 January 2021

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q

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7 January 2021

Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families

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7 January 2021

How photons start vision

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7 January 2021

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

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7 January 2021

Catalysis of guanine nucleotide exchange on Ran by the mitotic regulator RCC1

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7 January 2021

Retinal photoreceptor dystrophies LI. Edward Jackson Memorial Lecture

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7 January 2021

Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Processing and transport of retinoids by the retinal pigment epithelium

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7 January 2021

Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Primary structure and expression of the human beta-subunit and related proteins of the rod photoreceptor cGMP-gated channel

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7 January 2021

Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane

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7 January 2021

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

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7 January 2021

Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa

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7 January 2021

Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Molecular genetics of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Exchange of retinol between IRBP and CRBP

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Photoreceptor degeneration in vitamin A deprivation and retinitis pigmentosa: the equivalent light hypothesis.

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Autosomal dominant retinitis pigmentosa. A method of classification

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Serine-27-Phenylalanine Mutation within the Peripherin/RDS Gene in a Family with Cone Dystrophy

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Classification of congenital and early onset retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Heterologous expression of photoreceptor peripherin/rds and Rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Guanylyl cyclase activating protein. A calcium-sensitive regulator of phototransduction

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with Retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

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7 January 2021

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Retinopathy induced in mice by targeted disruption of the rhodopsin gene

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

On the heredity of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Localization of an autosomal dominant retinitis pigmentosa gene to chromosome 7q

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Clinical and genetic heterogeneity in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Interaction of the nuclear GTP-binding protein Ran with its regulatory proteins RCC1 and RanGAP1

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Rhodopsin kinase inhibition by recoverin. Function of recoverin myristoylation

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Missense rhodopsin mutation in a family with recessive RP

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Fundus Albipunctatus and Vitamin a Deficiency

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Cyclic GMP Accumulation Causes Degeneration of Photoreceptor Cells: Simulation of an Inherited Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Mutations in RPE65 cause Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Putative association of a mutant ROM1 allele with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Membrane turnover in rod photoreceptors: ensheathment and phagocytosis of outer segment distal tips by pseudopodia of the retinal pigment epithelium

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Evidence for a major gene (RP10) for autosomal dominant retinitis pigmentosa on chromosome 7q: linkage mapping in a second, unrelated family

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Linkage of a medium sized Scottish autosomal dominant retinitis pigmentosa family to chromosome 7q.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Autosomal dominant cone-rod dystrophy associated with a Val200Glu mutation of the peripherin/RDS gene

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Rhodopsin: structure, function, and genetics

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

1 reference

7 January 2021

Cloning and characterization of the gene encoding the cGMP-phosphodiesterase gamma-subunit of human rod photoreceptor cells

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Constitutively active mutants of rhodopsin

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

The small nuclear GTPase Ran: how much does it run?

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https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

G-protein deactivation is rate-limiting for shut-off of the phototransduction cascade

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A Heterozygous Putative Null Mutation in ROM1 without a Mutation in Peripherin/RDS in a Family with Retinitis Pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Development and degeneration of retina in rds mutant mice: light microscopy

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Lights out: deactivation of the phototransduction cascade

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p.

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

The human retinal degeneration slow (RDS) gene: Chromosome assignment and structure of the mRNA

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Genomic organization and complete sequence of the human gene encoding the β-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Genetic mapping of RP1 on 8q11-q21 in an Australian family with autosomal dominant retinitis pigmentosa reduces the critical region to 4 cM between D8S601 and D8S285

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Evaluation of the Rhodopsin Kinase Gene in Patients with Retinitis Pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

Arrestin Gene Mutations in Autosomal Recessive Retinitis Pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0039-6257%2898%2900046-0

7 January 2021

10.1016/S0039-6257(98)00046-0

Identifiers

DOI

1 reference

27 July 2017

1 reference