The mutation spectrum of the bestrophin protein--functional implications
about
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathiesBestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epitheliumThe vitelliform macular dystrophy protein defines a new family of chloride channels.Structure-function analysis of the bestrophin family of anion channelsFunctional roles of bestrophins in ocular epitheliaMolecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathiesStoichiometry 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.The role of bestrophin in airway epithelial ion transport.Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.Hydrodynamic properties of porcine bestrophin-1 in Triton X-100.A model of best vitelliform macular dystrophy in ratsBest's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration.Regulation of calcium-activated chloride channels in smooth muscle cells: a complex picture is emerging.Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy.BEST1 sequence variants in Italian patients with vitelliform macular dystrophyNew VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.Unilateral BEST1-Associated Retinopathy.Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.Soluble adenylyl cyclase in the eye.Clinical and genetic heterogeneity in Slovenian patients with BEST disease.Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.Multimodal fundus imaging in Best vitelliform macular dystrophy.Identification of a novel VMD2 mutation in Japanese patients with Best disease.Two bestrophins cloned from Xenopus laevis oocytes express Ca(2+)-activated Cl(-) currents.The bestrophin family of anion channels: identification of prokaryotic homologues.Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.Mapping of central visual function by microperimetry and autofluorescence in patients with Best's vitelliform 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.Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.
P2860
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P2860
The mutation spectrum of the bestrophin protein--functional implications
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
The mutation spectrum of the bestrophin protein--functional implications
@ast
The mutation spectrum of the bestrophin protein--functional implications
@en
The mutation spectrum of the bestrophin protein--functional implications
@nl
type
label
The mutation spectrum of the bestrophin protein--functional implications
@ast
The mutation spectrum of the bestrophin protein--functional implications
@en
The mutation spectrum of the bestrophin protein--functional implications
@nl
prefLabel
The mutation spectrum of the bestrophin protein--functional implications
@ast
The mutation spectrum of the bestrophin protein--functional implications
@en
The mutation spectrum of the bestrophin protein--functional implications
@nl
P2093
P3181
P356
P1433
P1476
The mutation spectrum of the bestrophin protein--functional implications
@en
P2093
A A Bergen
C Wadelius
K Petrukhin
M J Koisti
O Sandgren
S Andreasson
T Marknell
T Rosenberg
P2888
P3181
P356
10.1007/S004390050972
P407
P577
1999-05-01T00:00:00Z
P6179
1048809868