Bestrophin gene mutations in patients with Best vitelliform macular dystrophy
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VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathiesFunctional roles of bestrophins in ocular epitheliaMolecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathiesBiallelic mutation of BEST1 causes a distinct retinopathy in humansStoichiometry and specific assembly of Best ion channelsMouse 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 cellsA model of best vitelliform macular dystrophy in ratsMolecular 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 BEST1Screening for BEST1 gene mutations in Chinese patients with bestrophinopathyPhenotypic 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 BEST1Best'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 dystrophyA 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 dystrophyBestrophin 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 dystrophyThe 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.
P2860
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P2860
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy
description
1999 nî lūn-bûn
@nan
1999 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy
@ast
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy
@en
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy
@nl
type
label
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy
@ast
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
@en
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy
@nl
P2093
P356
P1433
P1476
Bestrophin gene mutations in patients with Best vitelliform macular dystrophy
@en
P2093
G M Caldwell
I B Griesinger
I H Maumenee
P A Sieving
P J Rosenfeld
R Ayyagari
S A Simpson
P304
P356
10.1006/GENO.1999.5808
P407
P577
1999-05-15T00:00:00Z