TRPM1 mutations are associated with the complete form of congenital stationary night blindness (Q33728459)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300565%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

TRPM1 mutations are associated with the complete form of congenital stationary night blindness (English)

1 reference

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congenital stationary night blindness

21 January 2020

main subject

congenital disorder

0 references

0 references

1 reference

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21 January 2020

Makoto Nakamura

1 reference

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21 January 2020

Rikako Sanuki

1 reference

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21 January 2020

Tetsuhiro R Yasuma

1 reference

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21 January 2020

Akishi Onishi

1 reference

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21 January 2020

Koji M Nishiguchi

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21 January 2020

Mikiko Kadowaki

1 reference

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21 January 2020

Mineo Kondo

1 reference

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21 January 2020

Yozo Miyake

1 reference

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21 January 2020

Takahisa Furukawa

1 reference

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21 January 2020

publication date

12 March 2010

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21 January 2020

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21 January 2020

volume

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21 January 2020

page(s)

425-437

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

21 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=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Sodium channel mutations and arrhythmias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Identification of molecular markers of bipolar cells in the murine retina

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

TRPC6 and FSGS: the latest TRP channelopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

The nonsense-mediated decay RNA surveillance pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

TRP channels: molecular diversity and physiological function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Dissecting independent channel and scaffolding roles of the Drosophila transient receptor potential channel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

TRP channels in Drosophila photoreceptor cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Congenital stationary nightblindness

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Organization of the retina of the mudpuppy, Necturus maculosus. II. Intracellular recording.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Congenital stationary night blindness with negative electroretinogram. A new classification

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Application of a fluorometric method to measure glutamate release from single retinal photoreceptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Pias3-dependent SUMOylation directs rod photoreceptor development

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Low temperature completely rescues the function of two misfolded K ATP channel disease-mutants

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Molecular genetic study of congenital stationary night blindness

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2838739

Melastatin expression and prognosis in cutaneous malignant melanoma

30 October 2018

1 reference

12 December 2020

Effects of flanking genes on the phenotypes of mice deficient in basigin/CD147

1 reference

12 December 2020

Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type

1 reference

12 December 2020

The mGluR6 5' upstream transgene sequence directs a cell-specific and developmentally regulated expression in retinal rod and ON-type cone bipolar cells

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

Patterns of melastatin mRNA expression in melanocytic tumors

1 reference

12 December 2020

Values of electroretinogram responses according to axial length

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300565%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

PubMed publication ID

20300565

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20300565%20AND%20SRC:MED&resulttype=core&format=json