Associated Papers
Adam9-deficient retinal pigment epithelium pseudopods maintain photoreceptor outer segment renewal despite subretinal space expansion.
Lewis TR et al.
The Journal of Clinical Investigation, 2026
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.
Bitan J et al.
Investigative Ophthalmology & Visual Science, 2025
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2024
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Cellular Changes in Retinas From Patients With BEST1 Mutations.
Bonilha VL et al.
Frontiers in Cell and Developmental Biology, 2020
Bestrophinopathy: An RPE-photoreceptor interface disease.
Guziewicz KE et al.
Progress in Retinal and Eye Research, 2017
Bestrophin 1 and retinal disease.
Johnson AA et al.
Progress in Retinal and Eye Research, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2014
Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
Schatz P et al.
Investigative Ophthalmology & Visual Science, 2010
Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
Boon CJ et al.
Retina (philadelphia, Pa.), 2009
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ et al.
Progress in Retinal and Eye Research, 2009
Functional roles of bestrophins in ocular epithelia.
Marmorstein AD et al.
Progress in Retinal and Eye Research, 2009
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.
Hartzell HC et al.
Physiological Reviews, 2008
Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2).
Bakall B et al.
Experimental Eye Research, 2007
Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.
Mullins RF et al.
Investigative Ophthalmology & Visual Science, 2007
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.
Guziewicz KE et al.
Investigative Ophthalmology & Visual Science, 2007
[VMD2 and its role in Best's disease and other retinopathies].
Stöhr H et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005