New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy. (Q37004715)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author

Rodolphe Fischmeister

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

author name string

D Marchant

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

K Yu

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

K Bigot

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

O Roche

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

A Germain

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

D Bonneau

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

V Drouin-Garraud

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

D F Schorderet

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

F Munier

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

D Schmidt

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

P Le Neindre

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

C Marsac

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

M Menasche

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

J L Dufier

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

C Hartzell

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

M Abitbol

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

7 February 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

25 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

e70

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

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

25 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Mouse bestrophin-2 is a bona fide Cl(-) channel: identification of a residue important in anion binding and conduction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Analysis of the VMD2 promoter and implication of E-box binding factors in its regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Structure-function analysis of the bestrophin family of anion channels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

The mutation spectrum of the bestrophin protein--functional implications

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Identification of the gene responsible for Best macular dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Adult vitelliform macular degeneration: diagnosis and natural history

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Polymorphous presentations in vitelliform macular dystrophy: subretinal neovascularisation and central choroidal atrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

A light-evoked interaction of apical and basal membranes of retinal pigment epithelium: c-wave and light peak

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Late onset is common in best macular dystrophy associated with VMD2 gene mutations

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best disease

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Phenotype and genotype correlations in two best families

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Two bestrophins cloned from Xenopus laevis oocytes express Ca(2+)-activated Cl(-) currents

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Detection of retinal dysfunction in vitelliform macular dystrophy using the multifocal ERG (MF-ERG).

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598027

Choroidal neovascular membrane in Best's vitelliform macular dystrophy

4 September 2018

1 reference

12 December 2020

Long-term Evaluation of Patients with Best's Vitelliform Dystrophy

1 reference

12 December 2020

Adult vitelliform macular detachment occurring in patients with basal laminar drusen

1 reference

12 December 2020

Best's vitelliform macular dystrophy

1 reference

12 December 2020

Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene

1 reference

12 December 2020

Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy

1 reference

12 December 2020

Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)

1 reference

12 December 2020

[Best's disease with normal EOG. Case report of familial macular dystrophy]

1 reference

12 December 2020

Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy

1 reference

12 December 2020

Hereditary vitelliruptive macular degeneration

1 reference

12 December 2020

Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state

1 reference

12 December 2020

Electro-Oculography in Best's Macular Dystrophy

1 reference

12 December 2020

Best'S Vitelliform Macular Dystrophy

1 reference

12 December 2020

Mapping of retinal function in Best macular dystrophy using multifocal electroretinography

1 reference

12 December 2020

Pseudovitelliform macular degeneration

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.2006.044511

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17287362%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference