Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies (Q41737723)

8 October 2017

1 reference

title

Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies (English)

1 reference

8 October 2017

K. Gregory-Evans

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9540407

16 December 2024

S. S. Bhattacharya

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:9540407

16 December 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9540407

16 December 2024

publication date

1 March 1998

1 reference

8 October 2017

March 1998

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=9540407

full work available at URL

16 December 2024

https://api.elsevier.com/content/article/PII:S0168952598014024?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

https://api.elsevier.com/content/article/PII:S0168952598014024?httpAccept=text/plain

16 December 2024

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

16 December 2024

1 reference

8 October 2017

volume

14

1 reference

8 October 2017

issue

3

1 reference

8 October 2017

page(s)

103-108

1 reference

The structure of rhodopsin and the rod outer segment disk membrane

8 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

7 January 2021

Missense rhodopsin mutation in a family with recessive RP

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

7 January 2021

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Constitutively active mutants of rhodopsin

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

7 January 2021

Retinopathy induced in mice by targeted disruption of the rhodopsin gene

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Rod photoreceptor neurite sprouting in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

7 January 2021

Synthetic phosphopeptide from rhodopsin sequence induces retinal arrestin binding to photoactivated unphosphorylated rhodopsin

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

7 January 2021

Control of substrate flow at a branch in the visual cycle

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Mutations in RPE65 cause Leber's congenital amaurosis

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

7 January 2021

Positional cloning of the gene associated with X-linked juvenile retinoschisis

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

The role of the pigment epithelium in the etiology of inherited retinal dystrophy in the rat

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

7 January 2021

Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Defective myosin VIIA gene responsible for Usher syndrome type 1B

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

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/S0168-9525(98)01402-4

7 January 2021

Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Cell loss in retinal dystrophies by apoptosis--death by informed consent!

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Apoptosis: final common pathway of photoreceptor death in rd, rds, and rhodopsin mutant mice

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Apoptotic photoreceptor cell death in mouse models of retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Bcl-2 and the regulation of programmed cell death

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Night blindness in Sorsby's fundus dystrophy reversed by vitamin A

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

7 January 2021

Nat

series ordinal

35

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

Myosin VIIa, the product of the Usher 1B syndrome gene, is concentrated in the connecting cilia of photoreceptor cells

16 December 2024

series ordinal

50

1 reference

https://api.crossref.org/works/10.1016/S0168-9525(98)01402-4

16 December 2024

Identifiers

1 reference

8 October 2017

1 reference