Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa (Q24310215)

GOA release 2020-03-11

1 reference

Jill E Urquhart

3

0 references

Samuel G. Jacobson

object named as

Samuel G Jacobson

12

0 references

author name string

Alice E Davidson

1

0 references

Ian D Millar

2

0 references

Rosemary Burgess-Mullan

4

0 references

Yusrah Shweikh

5

0 references

Neil Parry

6

0 references

James O'Sullivan

7

0 references

Geoffrey J Maher

8

0 references

Martin McKibbin

9

0 references

Susan M Downes

10

0 references

Andrew J Lotery

11

0 references

Peter D Brown

13

0 references

Graeme C M Black

14

0 references

Forbes D C Manson

American Journal of Human Genetics

15

0 references

language of work or name

English

0 references

publication date

November 2009

0 references

published in

0 references

volume

85

0 references

page(s)

581-92

0 references

issue

5

0 references

cites work

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=2775838

Regulation of bestrophin Cl channels by calcium: role of the C terminus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of Claudin-16

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Structure-function analysis of the bestrophin family of anion channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Identification of the gene responsible for Best macular dystrophy

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Haploview: analysis and visualization of LD and haplotype maps

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Allelic variation in the VMD2 gene in best disease and age-related macular degeneration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Molecular evolution and functional divergence of the bestrophin protein family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Unraveling trafficking of the kidney anion exchanger 1 in polarized MDCK epithelial cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Single Cl- channels activated by Ca2+ in Drosophila S2 cells are mediated by bestrophins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Establishment and characterization of a novel polarized MDCK epithelial cellular model for CFTR studies.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Polarized epithelial membrane traffic: conservation and plasticity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Effects of cystic fibrosis and congenital bilateral absence of the vas deferens-associated mutations on cystic fibrosis transmembrane conductance regulator-mediated regulation of separate channels

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR)

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Activation of the epithelial Na+ channel (ENaC) requires CFTR Cl- channel function

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Effects of DIDS on the chick retinal pigment epithelium. II. Mechanism of the light peak and other responses originating at the basal membrane

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Histopathologic features of adult-onset foveomacular pigment epithelial dystrophy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Optical coherence tomography in Best's disease: an observational case report

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Best's vitelliform macular dystrophy with pseudohypopyon: an optical coherence tomography study

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Expression and localization of bestrophin during normal mouse development

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

In vivo micropathology of Best macular dystrophy with optical coherence tomography.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Detecting polymorphisms and mutations in candidate genes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Optical coherence tomography findings in adult-onset foveomacular vitelliform dystrophy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Concentric retinitis pigmentosa: clinicopathologic correlations

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2775838

Autosomal dominant vitreoretinochoroidopathy

29 November 2018

1 reference

12 December 2020

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration

1 reference

12 December 2020

Bestrophin 1 and 2 are components of the Ca2+ activated Cl− conductance in mouse airways

1 reference

12 December 2020

10.1016/J.AJHG.2009.09.015

Identifiers

DOI

1 reference

release_36c5apla6baczizkjzgkmvlsbe

2361111

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/36c5apla6baczizkjzgkmvlsbe

24 November 2022

mapped directly with Wikidata item

2361111

1 reference

1 reference

1 reference