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
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
Genetics of Inherited Retinal Diseases in Understudied Populations.
Kannabiran C et al.
Frontiers in Genetics, 2022
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
34015078 (PubMed )
Supplement: iovs-62-6-22_s001.pdf
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
32111077 (PubMed )
Supplement: ijms-21-01597-s001.pdf
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
Nguyen TT et al.
Scientific Reports, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
Multimodal analysis of the progression of Best vitelliform macular dystrophy.
Querques G et al.
Molecular Vision, 2014
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
Querques G et al.
Investigative Ophthalmology & Visual Science, 2011
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
Querques G et al.
Molecular Vision, 2009
The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration.
Qu Z et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
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