Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans (Q24313099)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

congenital stationary night blindness

11 February 2020

main subject

congenital disorder

0 references

0 references

Transient receptor potential cation channel subfamily M member 1

1 reference

GOA release 2020-03-11

visual perception

1 reference

GOA release 2020-03-11

0 references

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

Panagiotis I Sergouniotis

11 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Donna S. Mackay

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Anthony Robson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

3

Michel Michaelides

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Genevieve A Wright

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Sophie Devery

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Anthony T Moore

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Graham E Holder

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Andrew R Webster

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

language of work or name

English

0 references

publication date

29 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

11 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

85

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

page(s)

711-719

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus)

11 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

Chromosomal localization and genomic characterization of the mouse melastatin gene (Mlsn1)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

TRPC1, a human homolog of a Drosophila store-operated channel

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

Amino acid substitution matrices from protein blocks

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

Abnormal Electroretinogram from a Drosophila Mutant

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

Human non-synonymous SNPs: server and survey

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

An introduction to TRP channels

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

TRP channels as cellular sensors

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

A retinal-specific regulator of G-protein signaling interacts with Galpha(o) and accelerates an expressed metabotropic glutamate receptor 6 cascade.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

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=2775833

Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat 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=2775833

The TRP ion channel family.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

Localization of mGluR6 to dendrites of ON bipolar cells in primate 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=2775833

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=2775833

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=2775833

Isolation and characterization of the leucine-rich proteoglycan nyctalopin gene (cNyx) from chick.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

Species specific membrane anchoring of nyctalopin, a small leucine-rich repeat protein

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

TRP, TRPL and trouble in photoreceptor cells

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775833

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

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19878917

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The metabotropic receptor mGluR6 may signal through G(o), but not phosphodiesterase, in retinal bipolar cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19878917

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.10.003

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19878917%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

2 references