(Q42235717)

English

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

scientific article published on 19 February 2014

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24560797%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

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

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24560797%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

corrigendum / erratum

Corrigendum to “Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1” [Exp. Eye Res. 121 (2014) 74–85]

1 reference

10.1016/J.EXER.2014.04.024

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1016/J.EXER.2014.04.024

5

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Europe PubMed Central

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8 March 2020

author name string

Adiv A Johnson

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24560797%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Yong-Suk Lee

2

1 reference

Europe PubMed Central

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8 March 2020

Andrew J Chadburn

3

1 reference

Europe PubMed Central

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8 March 2020

Paolo Tammaro

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24560797%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Lihua Y Marmorstein

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24560797%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Alan D Marmorstein

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24560797%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

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19 February 2014

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8 March 2020

number of pages

12

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inferred from page(s)

Experimental Eye Research

1 reference

Europe PubMed Central

PMC publication ID

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8 March 2020

121

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8 March 2020

74-85

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24560797%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4123461/fullTextXML

based on heuristic

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Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Pharmacological Correctors of Mutant CFTR Mistrafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

TREK-1 and Best1 channels mediate fast and slow glutamate release in astrocytes upon GPCR activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Oligomerization at the membrane: potassium channel structure and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Forkhead transcription factor FoxA1 regulates sweat secretion through Bestrophin 2 anion channel and Na-K-Cl cotransporter 1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Interaction of bestrophin-1 and Ca2+ channel β-subunits: identification of new binding domains on the bestrophin-1 C-terminus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Characterization of the oligomeric structure of the Ca(2+)-activated Cl- channel Ano1/TMEM16A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Bestrophin-2 mediates bicarbonate transport by goblet cells in mouse colon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Bestrophins and retinopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Dysregulation of human bestrophin-1 by ceramide-induced dephosphorylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Bestrophin detected in the basal membrane of the retinal epithelium and drusen of monkeys with drusenoid maculopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Functional roles of bestrophins in ocular epithelia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

The best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Bestrophin Cl- channels are highly permeable to HCO3-

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Hydrodynamic properties of porcine bestrophin-1 in Triton X-100.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Determinants of anion permeation in the second transmembrane domain of the mouse bestrophin-2 chloride channel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

A model of best vitelliform macular dystrophy in rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Structure-function analysis of the bestrophin family of anion channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Bestrophin interacts physically and functionally with protein phosphatase 2A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

The vitelliform macular dystrophy protein defines a new family of chloride channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Intracellular redirection of plasma membrane trafficking after loss of epithelial cell polarity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Identification of the gene responsible for Best macular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Construction of adenovirus vectors through Cre-lox recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

External and internal signals for epithelial cell surface polarization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

26 October 2017

Effect of bestrophin-1 on L-type Ca2+ channel activity depends on the Ca2+ channel beta-subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

29 May 2018

Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

29 May 2018

Steps in the morphogenesis of a polarized epithelium. II. Disassembly and assembly of plasma membrane domains during reversal of epithelial cell polarity in multicellular epithelial (MDCK) cysts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

29 May 2018

Steps in the morphogenesis of a polarized epithelium. I. Uncoupling the roles of cell-cell and cell-substratum contact in establishing plasma membrane polarity in multicellular epithelial (MDCK) cysts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

29 May 2018

Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

17 August 2018

Putative pore-loops of TMEM16/anoctamin channels affect channel density in cell membranes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

17 August 2018

Role of bestrophin-1 in store-operated calcium entry in retinal pigment epithelium.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

17 August 2018

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

17 August 2018

Channel-mediated tonic GABA release from glia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

17 August 2018

The presence of bestrophin-1 modulates the Ca2+ recruitment from Ca2+ stores in the ER.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

17 August 2018

Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

17 August 2018

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

17 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

17 August 2018

Expression and localization of bestrophin during normal mouse development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

17 August 2018

Functional Characterization of Bestrophin-1 Missense Mutations Associated with Autosomal Recessive Bestrophinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

1 December 2018

Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4123461

1 December 2018

Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane

1 reference

https://pubmed.ncbi.nlm.nih.gov/24560797

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function

1 reference

https://pubmed.ncbi.nlm.nih.gov/24560797

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polarisation, key to good localisation

1 reference

https://pubmed.ncbi.nlm.nih.gov/24560797

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.EXER.2014.02.006

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24560797%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24560797%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24560797%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

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