Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy (Q37263847)

19 August 2017

Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy (English)

1 reference

19 August 2017

Elliott H Sohn

1

0 references

Edwin M. Stone

object named as

Edwin M Stone

7

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author name string

Peter J Francis

2

1 reference

19 August 2017

Jacque L Duncan

3

1 reference

19 August 2017

Richard G Weleber

4

1 reference

19 August 2017

David A Saperstein

5

1 reference

19 August 2017

Donald F Farrell

6

1 reference

19 August 2017

language of work or name

English

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publication date

1 July 2009

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19 August 2017

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19 August 2017

127

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19 August 2017

7

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19 August 2017

913-920

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

High-resolution imaging with adaptive optics in patients with inherited retinal degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

A model of best vitelliform macular dystrophy in rats

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Structure-function analysis of the bestrophin family of anion channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Visual outcome following subretinal hemorrhage in Best disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

The mutation spectrum of the bestrophin protein--functional implications

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Identification of the gene responsible for Best macular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

In vivo fundus autofluorescence in macular dystrophies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Standard for clinical electro-oculography. International Society for Clinical Electrophysiology of Vision.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

High-definition optical coherence tomography features in vitelliform macular dystrophy

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Phenotype and genotype correlations in two best families

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Guidelines for basic multifocal electroretinography (mfERG).

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Fundus autofluorescence and age-related macular degeneration

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Differential Macular and Peripheral Expression of Bestrophin in Human Eyes and Its Implication for Best Disease

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

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

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Novel De Novo Mutation in a Patient With Best Macular Dystrophy

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2711525

Vitelliform macular dystrophy

3 December 2018

1 reference

12 December 2020

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

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

Genetic counseling of families with Best macular dystrophy

1 reference

12 December 2020

Choroidal neovascular membrane in Best's vitelliform macular dystrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

Histopathology of Best's macular dystrophy

1 reference

12 December 2020

A histopathologic study of Best's macular dystrophy

1 reference

12 December 2020

Histopathologic Findings in Best's Vitelliform Macular Dystrophy

1 reference

12 December 2020

Fast and slow oscillations of the electro-oculogram in Best's macular dystrophy and retinitis pigmentosa

1 reference

12 December 2020

Visual acuity in patients with best vitelliform 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

A novel mutation in the VMD2 gene in an Italian family with Best maculopathy

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

A novel mutation of the VMD2 gene in a Chinese family with best vitelliform macular dystrophy

1 reference

12 December 2020

10.1001/ARCHOPHTHALMOL.2009.148

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

19597114

1 reference