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
Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.
Kong MD et al.
International Journal of Molecular Sciences, 2025
A spontaneous nonhuman primate model of inherited retinal degeneration.
Yi W et al.
Jci Insight, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Expanding the Mutation Spectrum for Inherited Retinal Diseases.
Lynn J et al.
Genes, 2024
Twelve-year follow up of a case of autosomal recessive bestrophinopathy with transient resolution of retinal edema in one eye.
Remolí Sargues L et al.
European Journal of Ophthalmology, 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
Stage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography.
Jauregui R et al.
Scientific Reports, 2021
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Casalino G et al.
Ophthalmology, 2021
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Shah M et al.
Jama Ophthalmology, 2020
A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations.
Low S et al.
Eye (london, England), 2020
Cellular Changes in Retinas From Patients With BEST1 Mutations.
Bonilha VL et al.
Frontiers in Cell and Developmental Biology, 2020
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
Bestrophin1: A Gene that Causes Many Diseases.
Smith JJ et al.
Advances in Experimental Medicine and Biology, 2019
ATP activates bestrophin ion channels through direct interaction.
Zhang Y et al.
Nature Communications, 2018
Patient-specific mutations impair BESTROPHIN1's essential role in mediating Ca2+-dependent Cl- currents in human RPE.
Li Y et al.
Elife, 2017
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.
Khan KN et al.
Retina (philadelphia, Pa.), 2017
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Carrigan M et al.
Scientific Reports, 2016
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.
Wivestad Jansson R et al.
Ophthalmic Genetics, 2016
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
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
Pasquay C et al.
Ophthalmic Genetics, 2015
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
McLaughlin HM et al.
Bmc Medical Genetics, 2014
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
Zhao L et al.
Eye (london, England), 2012
Modeling the structural consequences of BEST1 missense mutations.
Guziewicz KE et al.
Advances in Experimental Medicine and Biology, 2012
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
Kinnick TR et al.
Retina (philadelphia, Pa.), 2011
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
Cohn AC et al.
Eye (london, England), 2011
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