Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
Unilateral maculopathy associated with autosomal dominant bestrophinopathy.
Cruz-Pimentel M et al.
Ophthalmic Genetics, 2025
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
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.
Xu P et al.
Journal of Translational Medicine, 2024
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2024
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes.
Daich Varela M et al.
The British Journal of Ophthalmology, 2023
Atypical Foveal Hypoplasia in Best Disease.
Moret E et al.
Journal of Personalized Medicine, 2023
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
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
Inhibition of Ca2+ channel surface expression by mutant bestrophin-1 in RPE cells.
Cordes M et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.
Ji C et al.
Scientific Reports, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
BEST1: the Best Target for Gene and Cell Therapies.
Yang T et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2015
Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.
Duncker T et al.
Investigative Ophthalmology & Visual Science, 2014
Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.
Bitner H et al.
American Journal of Ophthalmology, 2012
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy.
Kay CN et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2012
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
A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications.
Albuainain A et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society, 0