Mutations in TRPM1 are a common cause of complete congenital stationary night blindness (Q24315177)

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11 February 2020

title

Mutations in TRPM1 are a common cause of complete congenital stationary night blindness (English)

1 reference

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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

cellular response to light stimulus

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Jillian N Pearring

5

1 reference

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11 February 2020

Maureen A. McCall

7

1 reference

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11 February 2020

Ronald Gregg

9

1 reference

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11 February 2020

author name string

Maria M van Genderen

1

1 reference

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11 February 2020

Mieke M C Bijveld

2

1 reference

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11 February 2020

Yvonne B Claassen

3

1 reference

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11 February 2020

Ralph J Florijn

4

1 reference

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11 February 2020

Francoise M Meire

6

1 reference

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11 February 2020

Frans C C Riemslag

8

1 reference

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11 February 2020

Arthur A B Bergen

10

1 reference

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11 February 2020

Maarten Kamermans

11

1 reference

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11 February 2020

language of work or name

English

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publication date

5 November 2009

1 reference

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American Journal of Human Genetics

11 February 2020

published in

1 reference

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11 February 2020

volume

85

1 reference

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11 February 2020

issue

5

1 reference

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11 February 2020

page(s)

730-736

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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=2775826

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=2775826

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=2775826

Novel mutations in CACNA1F and NYX in Dutch families with X-linked 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=2775826

TRPM1 forms ion channels associated with melanin content in melanocytes

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

Comparisons of structural and functional abnormalities in mouse b-wave mutants.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

A naturally occurring mouse model of X-linked congenital stationary night blindness

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

Two signals in the human rod visual system: a model based on electrophysiological data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

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=2775826

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=2775826

An international standard for electroretinography

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

Rod flicker perception: scotopic duality, phase lags and destructive interference

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

Gbeta5 is required for normal light responses and morphology of retinal ON-bipolar 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=2775826

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775826

Suppression by glutamate of cGMP-activated conductance in retinal bipolar cells

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19896109

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Glutamate receptors of rod bipolar cells are linked to a cyclic GMP cascade via a G-protein

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19896109

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ON cone bipolar cells in rat express the metabotropic receptor mGluR6

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19896109

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.10.012

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19896109%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:19896109%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

19896109

2 references