TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness (Q35011677)

5 August 2017

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness (English)

1 reference

congenital stationary night blindness

5 August 2017

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author

José-Alain Sahel

28

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Kinga Bujakowska

Kinga Bujakowska

7

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Christina Zeitz

Christina Zeitz

30

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Susanne Kohl

Susanne Kohl

2

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Samuel G. Jacobson

Samuel G Jacobson

26

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Xavier Guillonneau

Xavier Guillonneau

5

0 references

Elfride De Baere

Elfride De Baere

24

0 references

Marie-Elise Lancelot

16

Marie-Elise Lancelot

1 reference

Veselina Moskova-Doumanova

5 August 2017

15

Veselina Moskova-Doumanova

1 reference

5 August 2017

21

Thierry Léveillard

1 reference

5 August 2017

6

Saddek Mohand-Saïd

1 reference

5 August 2017

12

Agnes B Renner

1 reference

5 August 2017

14

Aline Antonio

1 reference

5 August 2017

10

Markus Preising

1 reference

5 August 2017

1

Isabelle Audo

1 reference

5 August 2017

Charlotte M Poloschek

17

Charlotte M Poloschek

1 reference

Sabine Defoort-Dhellemmes

5 August 2017

19

Sabine Defoort-Dhellemmes

1 reference

5 August 2017

20

Bernd Wissinger

1 reference

5 August 2017

Bart P Leroy

3

1 reference

5 August 2017

Francis L Munier

4

1 reference

5 August 2017

Emeline F Nandrot

8

1 reference

5 August 2017

Birgit Lorenz

9

1 reference

5 August 2017

Ulrich Kellner

11

1 reference

5 August 2017

Antje Bernd

13

1 reference

5 August 2017

Isabelle Drumare

18

1 reference

5 August 2017

Christian P Hamel

22

1 reference

5 August 2017

Daniel F Schorderet

23

1 reference

5 August 2017

Wolfgang Berger

25

1 reference

5 August 2017

Eberhart Zrenner

27

1 reference

5 August 2017

Shomi S Bhattacharya

29

1 reference

5 August 2017

language of work or name

English

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publication date

5 November 2009

1 reference

American Journal of Human Genetics

5 August 2017

1 reference

5 August 2017

85

1 reference

5 August 2017

5

1 reference

5 August 2017

720-729

1 reference

Genotyping microarray for CSNB-associated genes.

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

TRPM1 forms ion channels associated with melanin content in melanocytes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Clinical and electroretinographic characteristics of congenital stationary night blindness in the Appaloosa and the association with the leopard complex

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Diagnostic ophthalmology. Congenital stationary night blindness (CSNB)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Localization of nyctalopin in the mammalian retina.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Regulation of melastatin, a TRP-related protein, through interaction with a cytoplasmic isoform

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

The TRP ion channel family.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

The light response of ON bipolar neurons requires G[alpha]o.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Localization of mGluR6 to dendrites of ON bipolar cells in primate retina

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Congenital stationary night blindness with negative electroretinogram. A new classification

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Congenital stationary night blindness: an animal model

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Scotopic threshold response in complete and incomplete types of congenital stationary night blindness

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Expression and Up-regulation of alternatively spliced transcripts of melastatin, a melanoma metastasis-related gene, in human melanoma cells.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775830

Developmentally regulated postsynaptic localization of a metabotropic glutamate receptor in rat rod bipolar cells

25 October 2018

1 reference

12 December 2020

ON cone bipolar cells in rat express the metabotropic receptor mGluR6

1 reference

12 December 2020

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

1 reference

12 December 2020

[Analysis of the human electroretinogram]

1 reference

12 December 2020

10.1016/J.AJHG.2009.10.013

Identifiers

DOI

1 reference

release_usaynetwwzb4to3k65brqz6arq

5 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/usaynetwwzb4to3k65brqz6arq

24 November 2022

mapped directly with Wikidata item

PMCID

2775830

1 reference

5 August 2017

1 reference