Associated Papers
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 Vitelliform Macular Dystrophy Natural History Study Report 2: Fundus Autofluorescence and OCT.
Laich Y et al.
Ophthalmology. Retina, 2025
Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.
Xu P et al.
Journal of Translational Medicine, 2024
Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
Laich Y et al.
Ophthalmology, 2024
Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.
Navinés-Ferrer A et al.
International Journal of Molecular Sciences, 2022
Stage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography.
Jauregui R et al.
Scientific Reports, 2021
Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations.
Zhao Q et al.
Elife, 2021
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.
Ji C et al.
Scientific Reports, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.
Chacon-Camacho OF et al.
Ophthalmic Genetics, 2011
Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.
Booij JC et al.
Ophthalmology, 2010
Regulation of bestrophins by Ca2+: a theoretical and experimental study.
Kranjc A et al.
Plos One, 2009
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.
Hartzell HC et al.
Physiological Reviews, 2008
Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration.
Yu K et al.
Investigative Ophthalmology & Visual Science, 2007
New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.
Marchant D et al.
Journal of Medical Genetics, 2007
Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane.
Milenkovic VM et al.
The Journal of Biological Chemistry, 2007
The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function.
Yu K et al.
Investigative Ophthalmology & Visual Science, 2006
[VMD2 and its role in Best's disease and other retinopathies].
Stöhr H et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005
The mutation spectrum of the bestrophin protein--functional implications.
Bakall B et al.
Human Genetics, 1999