Retinitis pigmentosa associated with a mutation in BEST1. (Q55398434)

6 July 2018

case report

0 references

title

Retinitis pigmentosa associated with a mutation in BEST1. (English)

1 reference

6 July 2018

1 reference

Lauren A Dalvin

1 reference

6 July 2018

Jackson E Abou Chehade

1 reference

6 July 2018

John Chiang

1 reference

6 July 2018

Josefine Fuchs

1 reference

6 July 2018

Raymond Iezzi

1 reference

6 July 2018

Alan D Marmorstein

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6 July 2018

publication date

30 March 2016

1 reference

6 July 2018

American journal of ophthalmology case reports

published in

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6 July 2018

volume

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6 July 2018

page(s)

11-17

1 reference

6 July 2018

Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Structure and insights into the function of a Ca(2+)-activated Cl(-) channel.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Structure and selectivity in bestrophin ion channels

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Bestrophins and retinopathies

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Suppression of Ca2+ signaling in a mouse model of Best disease

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Functional roles of bestrophins in ocular epithelia

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Retinal effects of 6 months of daily use of tadalafil or sildenafil

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

The role of carbonic anhydrase inhibitors in the management of macular edema

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Identification of the gene responsible for Best macular dystrophy

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

ISCEV Standard for full-field clinical electroretinography (2015 update).

10 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

ISCEV standard for clinical electro-oculography (2010 update).

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Childhood-Onset Autosomal Recessive Bestrophinopathy

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5757359

Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa

30 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29503890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Autosomal recessive bestrophinopathy (ARB): a clinical and molecular description of two patients at childhood]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/29503890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJOC.2016.03.005

1 reference

6 July 2018

release_tbk4riou5vfs7ne4tdtvlsr3zi

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/tbk4riou5vfs7ne4tdtvlsr3zi

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

5757359

1 reference

6 July 2018

PubMed publication ID

29503890

1 reference

6 July 2018