A model of best vitelliform macular dystrophy in rats - sprookjes - yvandenbroek - TriplyDB

A model of best vitelliform macular dystrophy in rats

A model of best vitelliform macular dystrophy in rats

http://www.wikidata.org/entity/Q33710044

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Functional roles of bestrophins in ocular epithelia Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1)Bestrophin Cl- channels are highly permeable to HCO3-The best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains.Stoichiometry and specific assembly of Best ion channels Hydrodynamic properties of porcine bestrophin-1 in Triton X-100.Voltage-dependent calcium channel CaV1.3 subunits regulate the light peak of the electroretinogram.Bestrophin 1 and retinal disease.Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration.Clinical evaluation of two consanguineous families with homozygous mutations in BEST1 Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease Single Cl- channels activated by Ca2+ in Drosophila S2 cells are mediated by bestrophins.Human photoreceptor outer segments shorten during light adaptation.Rescue of volume-regulated anion current by bestrophin mutants with altered charge selectivity.Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.Bestrophinopathy: An RPE-photoreceptor interface disease.Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.Bestrophin 2 is expressed in human non-pigmented ciliary epithelium but not retinal pigment epithelium.Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.Best1 is a gene regulated by nerve injury and required for Ca2+-activated Cl- current expression in axotomized sensory neurons.Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking.

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A model of best vitelliform macular dystrophy in rats

http://www.wikidata.org/entity/Q33710044

description

2004 nî lūn-bûn

@nan

2004 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2004 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2004年の論文

@ja

2004年論文

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2004年論文

@zh-hant

2004年論文

@zh-hk

2004年論文

@zh-mo

2004年論文

@zh-tw

2004年论文

@wuu

name

A model of best vitelliform macular dystrophy in rats

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A model of best vitelliform macular dystrophy in rats

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type

label

A model of best vitelliform macular dystrophy in rats

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A model of best vitelliform macular dystrophy in rats

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A model of best vitelliform macular dystrophy in rats

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A model of best vitelliform macular dystrophy in rats

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Investigative Ophthalmology & Visual Science

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A model of best vitelliform macular dystrophy in rats

@en

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Alan D Marmorstein

http://www.w3.org/2001/XMLSchema#string

Benjamin Bakall

http://www.w3.org/2001/XMLSchema#string

Claes Wadelius

http://www.w3.org/2001/XMLSchema#string

J Brett Stanton

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John Yocom

http://www.w3.org/2001/XMLSchema#string

Lihua Y Marmorstein

http://www.w3.org/2001/XMLSchema#string

Marc T Schiavone

http://www.w3.org/2001/XMLSchema#string

Neal S Peachey

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P2860

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

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

Identification of the gene responsible for Best macular dystrophy

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

Structure-function analysis of the bestrophin family of anion channels

The mutation spectrum of the bestrophin protein--functional implications

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

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

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

Best's vitelliform dystrophy.

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3733-3739

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10.1167/IOVS.04-0307

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10

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45

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2004-10-01T00:00:00Z

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15452084

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2834278

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