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
40891781 (PubMed )
Supplement: iovs-66-12-4_s009.xlsx › A._Variants_description
Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.
Xu P et al.
Journal of Translational Medicine, 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
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M 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
Patient-derived induced pluripotent stem cells for modelling genetic retinal dystrophies.
Foltz LP et al.
Progress in Retinal and Eye Research, 2019
Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective.
Dalvi S et al.
Advances in Experimental Medicine and Biology, 2019
Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.
Lin Y et al.
Molecular Medicine Reports, 2018
BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.
Moshfegh Y et al.
Human Molecular Genetics, 2016
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2014
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