Bestrophin gene mutations in patients with Best vitelliform macular dystrophy - Test2 - elhamkhani - TriplyDB

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

http://www.wikidata.org/entity/Q28144247

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VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies Functional roles of bestrophins in ocular epithelia Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies Biallelic mutation of BEST1 causes a distinct retinopathy in humans Stoichiometry and specific assembly of Best ion channels Mouse bestrophin-2 is a bona fide Cl(-) channel: identification of a residue important in anion binding and conduction.Lineage-specific expression of bestrophin-2 and bestrophin-4 in human intestinal epithelial cells A model of best vitelliform macular dystrophy in rats Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.Functional correlates of positional and gender-specific renal asymmetry in Drosophila.A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1 Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.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 Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.The genetics of inherited macular dystrophies.An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration.Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.Outer retinal structure in best vitelliform macular dystrophy Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.Characterization of lincRNA expression in the human retinal pigment epithelium and differentiated induced pluripotent stem cells.Clinical and genetic heterogeneity in Slovenian patients with BEST disease.Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy The bestrophin family of anion channels: identification of prokaryotic homologues.Volume sensitivity of the bestrophin family of chloride channels.Mitochondria dependent pathway is involved in the protective effect of bestrophin-3 on hydrogen peroxide-induced apoptosis in basilar artery smooth muscle cells.A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY.Dbest1, a Drosophila homolog of human Bestrophin, is not required for viability or photoreceptor integrity.Phenotype and genotype of patients with autosomal recessive bestrophinopathy.

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P2860

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

http://www.wikidata.org/entity/Q28144247

description

1999 nî lūn-bûn

@nan

1999 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

1999 թվականի մայիսին հրատարակված գիտական հոդված

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1999年の論文

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1999年論文

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1999年論文

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1999年論文

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1999年論文

@zh-mo

1999年論文

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1999年论文

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name

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

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Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

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Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

@nl

type

label

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

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Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

@en

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

@nl

prefLabel

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

@ast

Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

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Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

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Bestrophin gene mutations in patients with Best vitelliform macular dystrophy

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G M Caldwell

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I B Griesinger

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I H Maumenee

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K W Small

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L E Kakuk

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R Ayyagari

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S A Simpson

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10.1006/GENO.1999.5808

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1

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