Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa (Q72174607)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Disruption of conserved rhodopsin disulfide bond by Cys187Tyr mutation causes early and severe autosomal dominant retinitis pigmentosa (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

J E Richards

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

K M Scott

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

P A Sieving

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

publication date

1 April 1995

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

page(s)

669-677

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

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

24 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Ocular findings in a family with autosomal dominant retinitis pigmentosa and a frameshift mutation altering the carboxyl terminal sequence of rhodopsin.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Rhodopsin Thr58Arg Mutation in a Family with Autosomal Dominant Retinitis Pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

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%2FS0161-6420%2895%2930972-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Cysteine residues 110 and 187 are essential for the formation of correct structure in bovine rhodopsin

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Molecular biology of the visual pigments

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Receptor-effector coupling by G proteins

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Molecular genetics of human color vision: the genes encoding blue, green, and red pigments

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Standard for clinical electroretinography. International Standardization Committee

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Regional localization on the human X of DNA segments cloned from flow sorted chromosomes

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

DNA sequencing with chain-terminating inhibitors

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Isolation, sequence analysis, and intron-exon arrangement of the gene encoding bovine rhodopsin

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Structure and function in rhodopsin: replacement by alanine of cysteine residues 110 and 187, components of a conserved disulfide bond in rhodopsin, affects the light-activated metarhodopsin II state

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

Light-Induced Interaction between Rhodopsin and the GTP-Binding Protein. Metarhodopsin II Is the Major Photoproduct Involved

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

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%2FS0161-6420%2895%2930972-4

7 January 2021

Defective colour vision associated with a missense mutation in the human green visual pigment gene

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

An electroretinographic and molecular genetic study of X-linked cone degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2895%2930972-4

7 January 2021

10.1016/S0161-6420(95)30972-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7724183%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference