Associated Papers
Gene Therapy Strategies for the Treatment of Bestrophinopathies.
Haldrup SB et al.
International Journal of Molecular Sciences, 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 Features of Autosomal Recessive Bestrophinopathy: A Case Series from a Vietnamese Cohort.
Nguyen TTT et al.
Biomedicines, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ et al.
Biomolecules, 2024
Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging.
Bianco L et al.
Ophthalmic Genetics, 2024
Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.
Shi J et al.
Investigative Ophthalmology & Visual Science, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
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
Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.
Chibani Z et al.
Clinical & Experimental Ophthalmology, 2019
Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Frecer V et al.
Journal of Translational Medicine, 2019
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.
Luo J et al.
Acta Ophthalmologica, 2019
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
Nguyen TT et al.
Scientific Reports, 2018
Bestrophin 1 and retinal disease.
Johnson AA et al.
Progress in Retinal and Eye Research, 2017
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Kubota D et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2016
New best1 mutations in autosomal recessive bestrophinopathy.
Fung AT et al.
Retina (philadelphia, Pa.), 2015
Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
Pasquay C et al.
Ophthalmic Genetics, 2015
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
Johnson AA et al.
Experimental Eye Research, 2014
Association between polymorphisms in sclerostin, dickkopfs and secreted frizzled-related protein genes and bone mineral density in postmenopausal Korean women.
Lee DO et al.
Gynecologic and Obstetric Investigation, 2014
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.
Wittström E et al.
Ophthalmic Genetics, 2011
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.
Bitner H et al.
Investigative Ophthalmology & Visual Science, 2011
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
Lacassagne E et al.
Molecular Vision, 2011
Autosomal recessive bestrophinopathy: new observations on the retinal phenotype - clinical and molecular report of an Italian family.
Guerriero S et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2011
Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.
Piñeiro-Gallego T et al.
Molecular Vision, 2011
Bestrophins and retinopathies.
Xiao Q et al.
Pflugers Archiv : European Journal of Physiology, 2010
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ et al.
Progress in Retinal and Eye Research, 2009
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
Burgess R et al.
American Journal of Human Genetics, 2008