(Q41652312)

6 October 2017

1 reference

title

Identification of genes causing photoreceptor degenerations leading to blindness (English)

1 reference

6 October 2017

main subject

photoreceptor protein

0 references

author name string

Farber DB

series ordinal

1

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6 October 2017

Danciger M

series ordinal

2

1 reference

6 October 2017

publication date

1 October 1997

1 reference

Current Opinion in Neurobiology

6 October 2017

published in

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6 October 2017

volume

7

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6 October 2017

issue

5

1 reference

6 October 2017

page(s)

666-673

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

6 October 2017

1 reference

7 January 2021

Isolation and nucleotide sequence of the gene encoding human rhodopsin

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Assignment of the rhodopsin gene to human chromosome three, region 3q21-3q24 by in situ hybridization studies

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Missense rhodopsin mutation in a family with recessive RP

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

Analysis of phosducin as a candidate gene for retinopathies

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Phosphodiesterase activation by photoexcited rhodopsin is quenched when rhodopsin is phosphorylated and binds the intrinsic 48-kDa protein of rod outer segments

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Oguchi disease: suggestion of linkage to markers on chromosome 2q

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Assignment of the S-antigen gene (SAG) to human chromosome 2q24-q37

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

Autosomal dominant central areolar choroidal dystrophy caused by a mutation in codon 142 in the peripherin/RDS gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

Mutation analysis of the ROM1 gene in retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

The gene for Best's macular dystrophy is located at 11q13 in a Swedish family

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Linkage Study of Best‘s Vitelliform Macular Dystrophy (VMD2) in a Large North American Family

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Genetic fine mapping of the gene for recessive Stargardt disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

A fundus dystrophy with unusual features

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

X-linked retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

X-linked retinitis pigmentosa. Profile of clinical findings

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

Identification of a novel gene, ETX1 from Xp21.1, a candidate gene for X-linked retintis pigmentosa (RP3).

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

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%2FS0959-4388%2897%2980087-6

7 January 2021

Cloning of a gene that is rearranged in patients with choroideraemia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Isolation of a candidate gene for choroideremia

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Cloning and characterization of the human choroideremia gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

A type VII myosin encoded by the mouse deafness gene shaker-1

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells

1 reference

https://api.crossref.org/works/10.1016%2FS0959-4388%2897%2980087-6

7 January 2021

10.1016/S0959-4388(97)80087-6

Identifiers

DOI

1 reference

6 October 2017

1 reference