GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness (Q24305072)

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English	GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness	scientific article

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22 January 2020

GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness (English)

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22 January 2020

congenital disorder

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congenital stationary night blindness

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G protein-coupled receptor 179

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GOA release 2020-03-11

visual perception

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GOA release 2020-03-11

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Gianluca Tosini

8

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22 January 2020

15

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22 January 2020

Pierre Lachapelle

22

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22 January 2020

Maureen A. McCall

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22 January 2020

27

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22 January 2020

Robert Koenekoop

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Robert K Koenekoop

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22 January 2020

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Neal S Peachey

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22 January 2020

Thomas A Ray

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22 January 2020

Ralph Florijn

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22 January 2020

Lucy B Rowe

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22 January 2020

Trijntje Sjoerdsma

5

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22 January 2020

Susana Contreras-Alcantara

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22 January 2020

Kenkichi Baba

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22 January 2020

Nikita Pozdeyev

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22 January 2020

P Michael Iuvone

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22 January 2020

Pasano Bojang

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22 January 2020

Jillian N Pearring

12

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22 January 2020

Huibert Jan Simonsz

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22 January 2020

Maria van Genderen

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22 January 2020

Elias I Traboulsi

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22 January 2020

Allison Dorfman

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22 January 2020

Irma Lopez

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22 January 2020

Huanan Ren

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22 January 2020

Andrew F X Goldberg

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22 January 2020

Patsy M Nishina

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22 January 2020

Arthur A B Bergen

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22 January 2020

Maarten Kamermans

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22 January 2020

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1 February 2012

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22 January 2020

American Journal of Human Genetics

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22 January 2020

90

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22 January 2020

2

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22 January 2020

331-339

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22 January 2020

Mutations in TRPM1 are a common cause of 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=3276656

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

19 March 2017

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=3276656

19 March 2017

TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

19 March 2017

TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

19 March 2017

Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

19 March 2017

A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

27 September 2017

Light-evoked responses of the retinal pigment epithelium: changes accompanying photoreceptor loss in the mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

27 September 2017

TRPM1 mutations are associated with the complete form of 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=3276656

27 September 2017

TRPM1 is mutated in patients with autosomal-recessive 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=3276656

27 September 2017

Probing neurochemical structure and function of retinal ON bipolar cells with a transgenic mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

27 September 2017

Identification of molecular markers of bipolar cells in the murine retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

27 September 2017

Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked 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=3276656

27 September 2017

An intramembrane glutamic acid governs peripherin/rds function for photoreceptor disk morphogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

27 September 2017

Generation, identification and functional characterization of the nob4 mutation of Grm6 in the mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

27 September 2017

A naturally occurring mouse model of X-linked 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=3276656

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

30 May 2018

An inexpensive device for non-invasive electroretinography in small aquatic vertebrates.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

30 May 2018

Congenital stationary night blindness with negative electroretinogram. A new classification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

30 May 2018

Isolation of ON bipolar cell genes via hrGFP-coupled cell enrichment using the mGluR6 promoter

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

29 November 2018

Gbeta5 is required for normal light responses and morphology of retinal ON-bipolar cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

29 November 2018

Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina.

1 reference

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29 November 2018

Pharmacological studies of the mouse cone electroretinogram.

1 reference

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29 November 2018

Light response of retinal ON bipolar cells requires a specific splice variant of Galpha(o).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276656

29 November 2018

The photopic electroretinogram in congenital stationary night blindness with myopia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22325362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

'On' response defect in paraneoplastic night blindness with cutaneous malignant melanoma

1 reference

https://pubmed.ncbi.nlm.nih.gov/22325362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

PCR-amplification of simple sequence repeat variants from pooled DNA samples for rapidly mapping new mutations of the mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/22325362

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2011.12.006

1 reference

Europe PubMed Central

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22 January 2020

PMC publication ID

1 reference

Europe PubMed Central

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22 January 2020

PubMed publication ID

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22325362%20AND%20SRC:MED&resulttype=core&format=json

22 January 2020

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