A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness (Q28767407)

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2 January 2020

title

A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246026%20AND%20SRC:MED&resulttype=core&format=json

congenital stationary night blindness

2 January 2020

main subject

congenital disorder

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0 references

author

Lifeng Wang

2

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2 January 2020

author name string

Yonghao Gu

1

1 reference

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2 January 2020

Jie Zhou

3

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2 January 2020

Qun Guo

4

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2 January 2020

Na Liu

5

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2 January 2020

Zhenqiang Ding

6

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2 January 2020

Li Li

7

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2 January 2020

Xinping Liu

8

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2 January 2020

Jing An

9

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2 January 2020

Guolin Yan

10

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2 January 2020

Libo Yao

11

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2 January 2020

Zuoming Zhang

12

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2 January 2020

language of work or name

English

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publication date

9 January 2008

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2 January 2020

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2 January 2020

volume

14

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2 January 2020

page(s)

20-28

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Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

2 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Identification of the gene and the mutation responsible for the mouse nob phenotype

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Expression of the alpha1F calcium channel subunit by photoreceptors in the rat retina

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Congenital stationary night blindness associated with mutations in GRM6 encoding glutamate receptor MGluR6.

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Neurotransmitter release at ribbon synapses in the retina

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

The autosomal recessive variety of congenital stationary night-blindness with myopia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Congenital stationary nightblindness

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Congenital stationary night blindness with negative electroretinogram. A new classification

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

X-linked congenital stationary night blindness. Review and report of a family with hyperopia

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Photoreceptor calcium channels: insight from night blindness.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Congenital stationary night blindness: report of an autosomal recessive family and linkage analysis.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

A naturally occurring rat model of X-linked cone dysfunction

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

A potential spontaneous rat model of X-linked congenital stationary night blindness

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2267729

Immunocytochemical analysis of the mouse retina

27 November 2018

1 reference

12 December 2020

Sex-Linked Myopic Chorioretinal Heredodegeneration*

1 reference

12 December 2020

Syndrome of congenital high myopia with nyctalopia. Report of findings in 25 families

1 reference

12 December 2020

X-linked recessive congenital stationary night blindness, myopia, and tilted discs

1 reference

12 December 2020

The Eisdell pedigree. Congenital stationary night-blindness with myopia

1 reference

12 December 2020

Congenital stationary night blindness presenting as Leber's congenital amaurosis

1 reference

12 December 2020

Rod bipolar cells in the mammalian retina show protein kinase C-like immunoreactivity

1 reference

12 December 2020

A NEW PEDIGREE OF IDIOPATHIC CONGENITAL NIGHT-BLINDNESS TRANSMITTED AS A DOMINANT HEREDITARY TRAIT

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18246026%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

PubMed publication ID

18246026

1 reference