X-linked cone dystrophy caused by mutation of the red and green cone opsins (Q24336274)

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6 February 2020

title

X-linked cone dystrophy caused by mutation of the red and green cone opsins (English)

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Opsin 1, medium wave sensitive 3

6 February 2020

main subject

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GOA release 2020-03-11

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6 February 2020

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6 February 2020

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6 February 2020

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6 February 2020

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6 February 2020

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6 February 2020

Michel Michaelides

1 reference

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6 February 2020

Jessica C Gardner

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6 February 2020

Naheed Kanuga

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6 February 2020

Graham E Holder

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6 February 2020

Andrew Stockman

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6 February 2020

Caterina Ripamonti

1 reference

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6 February 2020

Neil D Ebenezer

1 reference

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6 February 2020

Sophie Devery

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6 February 2020

Genevieve A Wright

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6 February 2020

Anthony T Moore

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6 February 2020

language of work or name

English

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publication date

24 June 2010

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American Journal of Human Genetics

6 February 2020

published in

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6 February 2020

volume

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6 February 2020

issue

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6 February 2020

page(s)

26-39

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A dual role for EDEM1 in the processing of rod opsin

6 February 2020

cites work

1 reference

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X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Signatures of selection and gene conversion associated with human color vision variation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Mutagenesis studies of human red opsin: trp-281 is essential for proper folding and protein-retinal interactions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Genetic heterogeneity among blue-cone monochromats

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Allelic diversity is generated by intraexon sequence exchange at the DRB1 locus of primates

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Crystal structure of rhodopsin: A G protein-coupled receptor

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Position of a 'green-red' hybrid gene in the visual pigment array determines colour-vision phenotype

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Molecular genetics of inherited variation in human color vision

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

IRE1 signaling affects cell fate during the unfolded protein response

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

INTERMITTENT STIMULATION BY LIGHT : V. THE RELATION BETWEEN INTENSITY AND CRITICAL FREQUENCY FOR DIFFERENT PARTS OF THE SPECTRUM.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

INTERMITTENT STIMULATION BY LIGHT : IV. A THEORETICAL INTERPRETATION OF THE QUANTITATIVE DATA OF FLICKER

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Gene therapy for red-green colour blindness in adult primates

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Blue cone monochromacy: causative mutations and associated phenotypes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Pharmacological manipulation of gain-of-function and dominant-negative mechanisms in rhodopsin retinitis pigmentosa.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Gene conversion: mechanisms, evolution and human disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

The effect of sildenafil citrate (Viagra) on visual sensitivity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

The molecular basis of variation in human color vision

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Progressive cone dystrophy associated with mutation in CNGB3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Blue cone monochromatism: clinical findings in patients with mutations in the red/green opsin gene cluster.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Differential dynamics in the G protein-coupled receptor rhodopsin revealed by solution NMR.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

The cone dysfunction syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

A two-locus gene conversion model with selection and its application to the human RHCE and RHD genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Crystal structure of rhodopsin: a template for cone visual pigments and other G protein-coupled receptors.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

The cellular fate of mutant rhodopsin: quality control, degradation and aggresome formation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Mutation of a conserved cysteine in the X-linked cone opsins causes color vision deficiencies by disrupting protein folding and stability

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

A new mechanism in blue cone monochromatism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Gene conversion between red and defective green opsin gene in blue cone monochromacy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Human fetal globin DNA sequences suggest novel conversion event

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Molecular genetics of human blue cone monochromacy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Spectral tuning of pigments underlying red-green color vision

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Polymorphism in red photopigment underlies variation in colour matching

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

The road to color vision: structure, evolution and function of chicken and gecko visual pigments

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Selective expression of human X chromosome-linked green opsin genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

ISCEV standard for clinical pattern electroretinography--2007 update

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

The spectral sensitivities of the middle- and long-wavelength-sensitive cones derived from measurements in observers of known genotype

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Haplotype diversity in the human red and green opsin genes: evidence for frequent sequence exchange in exon 3.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

The temporal properties of the human short-wave photoreceptors and their associated pathways

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

RPGR ORF15 genotype and clinical variability of retinal degeneration in an Australian population.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

ISCEV Standard for full-field clinical electroretinography (2008 update).

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Retinoids assist the cellular folding of the autosomal dominant retinitis pigmentosa opsin mutant P23H.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Estimates of L:M cone ratio from ERG flicker photometry and genetics

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Mutations in the RPGR gene cause X-linked cone dystrophy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

S-cone ERGs elicited by a simple technique in normals and in tritanopes.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Color from invisible flicker: a failure of the Talbot-Plateau law caused by an early 'hard' saturating nonlinearity used to partition the human short-wave cone pathway

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Faster than the eye can see: blue cones respond to rapid flicker

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Mapping of the amino acids in membrane-embedded helices that interact with the retinal chromophore in bovine rhodopsin.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2896775

Tandem array of human visual pigment genes at Xq28

29 November 2018

1 reference

12 December 2020

Movement of retinal along the visual transduction path

1 reference

12 December 2020

Residual cone vision without alpha-transducin

1 reference

12 December 2020

Specific tryptophan UV-absorbance changes are probes of the transition of rhodopsin to its active state

1 reference

12 December 2020

Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2010.05.019

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.AJHG.2010.05.019

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20579627%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20579627%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

20579627

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20579627%20AND%20SRC:MED&resulttype=core&format=json