Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6 (Q24555742)

2

0 references

Eliot L Berson

3

0 references

Gerald A Fishman

4

0 references

Michael A Sandberg

5

0 references

Kenneth R Alexander

6

0 references

Deborah J Derlacki

7

0 references

Aruna S Rajagopalan

Proceedings of the National Academy of Sciences of the United States of America

8

0 references

language of work or name

English

0 references

publication date

29 March 2005

0 references

published in

0 references

volume

102

0 references

issue

13

0 references

page(s)

4884-9

0 references

cites work

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Gap junctions between photoreceptor cells in the vertebrate retina

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Structural basis of glutamate recognition by a dimeric metabotropic glutamate receptor

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Cloning, distribution and functional expression of the human mGlu6 metabotropic glutamate receptor

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Molecular characterization of a novel retinal metabotropic glutamate receptor mGluR6 with a high agonist selectivity for L-2-amino-4-phosphonobutyrate

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

The metabotropic glutamate receptors: structure and functions

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Primate Retinal Signaling Pathways: Suppressing ON-Pathway Activity in Monkey With Glutamate Analogues Mimics Human CSNB1-NYX Genetic Night Blindness

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

NYX(Nyctalopin on Chromosome X), the Gene Mutated in Congenital Stationary Night Blindness, Encodes a Cell Surface Protein

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Structure of the metabotropic glutamate receptor

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

A novel signaling pathway from rod photoreceptors to ganglion cells in mammalian retina

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Photopic ON- and OFF-pathway abnormalities in retinal dystrophies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

An alternative pathway for signal flow from rod photoreceptors to ganglion cells in mammalian retina

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

The eclectroretinogram: its components and their origins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

B-wave of the electroretinogram. A reflection of ON bipolar cell activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Functional architecture of the mammalian retina

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Functions of the ON and OFF channels of the visual system.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Night blindness revisited: from man to molecules. Proctor lecture

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Microcircuitry of the dark-adapted cat retina: functional architecture of the rod-cone network

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Congenital stationary night blindness with negative electroretinogram. A new classification

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Rod and cone dysfunction in carriers of X-linked retinitis pigmentosa.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Characterization of an extended glutamate receptor of the on bipolar neuron in the vertebrate retina.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Cat cones have rod input: a comparison of the response properties of cones and horizontal cell bodies in the retina of the cat

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Signal transmission along retinal rods and the origin of the electroretinographic a-wave.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene.

30 May 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501233102

A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501233102

Retinal bipolar cell input mechanisms in giant danio. I. Electroretinographic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501233102

Photovoltage of rods and cones in the macaque retina.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501233102

Direct synaptic connections between rods and OFF cone bipolar cells in the rabbit retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501233102

Retinal bipolar cell input mechanisms in giant danio. II. Patch-clamp analysis of on bipolar cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501233102

Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Slow and fast rod ERG pathways in patients with X-linked complete stationary night blindness carrying mutations in the NYX gene

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=555731

Effect of Magnesium on Horizontal Cell Activity in the Skate Retina

28 November 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0501233102

Normal values for the Pelli-Robson contrast sensitivity test

21 January 2018

1 reference

12 December 2020

On-off interaction in the human electroretinogram

1 reference

12 December 2020

[Analysis of the human electroretinogram]

1 reference

12 December 2020

Narrow-band filtering for monitoring low-amplitude cone electroretinograms in retinitis pigmentosa

1 reference

12 December 2020

On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness

1 reference

12 December 2020

Cone Electroretinograms in Congenital Nyctalopia with Myopia

1 reference

12 December 2020

Positive and Negative Deflections in the Off Response of the Electroretinogram in Man

1 reference

12 December 2020

2-Amino-4-Phosphonobutyric Acid: A New Pharmacological Tool for Retina Research

1 reference

12 December 2020

Temporal aspects of the dark-adapted cone a-wave in retinitis pigmentosa

1 reference

12 December 2020

Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave

1 reference

12 December 2020

A proximal retinal component in the primate photopic ERG a-wave

1 reference

12 December 2020

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

1 reference

12 December 2020

OFF-alpha and OFF-beta ganglion cells in cat retina. I: Intracellular electrophysiology and HRP stains

1 reference

12 December 2020

Impairment of pupillary responses and optokinetic nystagmus in the mGluR6-deficient mouse

1 reference

12 December 2020

Submicrovolt full-field cone electroretinograms: artifacts and reproducibility

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0501233102

1 reference

948721

ADS bibcode

2005PNAS..102.4884D

0 references

948721

1 reference

1 reference

1 reference