Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
about
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epitheliumMissense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaThe vitelliform macular dystrophy protein defines a new family of chloride channels.Structure-function analysis of the bestrophin family of anion channelsEvaluation of the G protein coupled receptor-75 (GPR75) in age related macular degenerationRestoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell modelBiallelic mutation of BEST1 causes a distinct retinopathy in humansFunctional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.Genetic basis of inherited macular dystrophies and implications for stem cell therapy.Screening 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.Genetics of age-related macular degeneration: current concepts, future directions.Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.Structure and selectivity in bestrophin ion channels.Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.The genetics of inherited macular dystrophies.New best1 mutations in autosomal recessive bestrophinopathy.Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.Genetic factors of age-related macular degeneration.Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best diseaseA novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.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 dystrophyMutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.Unilateral BEST1-Associated Retinopathy.Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.Multimodal analysis of the progression of Best vitelliform macular dystrophy.Modeling the structural consequences of BEST1 missense mutations.VMD2 mutational analysis in a Japanese family with Best macular dystrophy.Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
P2860
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P2860
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
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2000 nî lūn-bûn
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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name
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
@ast
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
@en
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
@nl
type
label
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
@ast
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
@en
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
@nl
prefLabel
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
@ast
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
@en
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
@nl
P2093
P3181
P1476
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
@en
P2093
A J Lotery
B E Nichols
D F Schorderet
F L Munier
G A Fishman
L M Affatigato
R G Weleber
S G Jacobson
V C Sheffield
P304
P3181
P407
P577
2000-05-01T00:00:00Z