Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. (Q54378997)

From Wikidata

Jump to navigation Jump to search

scientific article

Language	Label	Description	Also known as
English	Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

angle-closure glaucoma

1 reference

based on heuristic

inferred from title

author name string

Elisabeth Wittström

1

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

Vesna Ponjavic

2

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

Marie-Louise Bondeson

3

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

Sten Andréasson

4

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

publication date

7 April 2011

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

Ophthalmic Genetics

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

32

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

4

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

217-227

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

Angle-closure glaucoma in teenagers

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome?

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Identification of the gene responsible for Best macular dystrophy

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Structure-function analysis of the bestrophin family of anion channels

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Bestrophin Cl- channels are highly permeable to HCO3-

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

The mutation spectrum of the bestrophin protein--functional implications

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Phenotype and genotype correlations in two best families

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Clinical and molecular genetic analysis of best vitelliform macular dystrophy

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 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://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

The role of the retinal pigment epithelium: topographical variation and ageing changes

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

OTX2 activates the molecular network underlying retina pigment epithelium differentiation

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

BEST1 expression in the retinal pigment epithelium is modulated by OTX family members

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

ISCEV Standard for full-field clinical electroretinography (2008 update).

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

ISCEV Standard for Clinical Electro-oculography (EOG) 2006

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

ISCEV guidelines for clinical multifocal electroretinography (2007 edition).

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Multifocal Best's vitelliform dystrophy

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

High-definition optical coherence tomography features in vitelliform macular dystrophy

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Localization of multifocal electroretinogram abnormalities to the lesion site: findings in a family with Best disease.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Alternative promoter use in eye development: the complex role and regulation of the transcription factor MITF.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Heterozygous mutations of OTX2 cause severe ocular malformations

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Novel De Novo Mutation in a Patient With Best Macular Dystrophy

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F13816810.2011.567884

21 January 2018

Identifiers

10.3109/13816810.2011.567884

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21473666

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q54378997&oldid=1524545712"