Associated Papers
Hsp70/CHIP E3 ligase complex triggers K149-linked ubiquitination and degradation of BEST1 mutants p.P233L and p.P346H, impairing chloride channel function and retinal integrity.
Zhou Z et al.
Cellular Signalling, 2026
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
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
Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.
Zhao D et al.
Bmc Ophthalmology, 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
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient.
Zhao B et al.
Bmc Ophthalmology, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 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
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
Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
Gao FJ et al.
The British Journal of Ophthalmology, 2020
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
Habibi I et al.
Genes, 2019
Bestrophin 1 and retinal disease.
Johnson AA et al.
Progress in Retinal and Eye Research, 2017
Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model.
Uggenti C et al.
Disease Models & Mechanisms, 2016
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
Davidson AE et al.
Investigative Ophthalmology & Visual Science, 2011
Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy.
Witsberger E et al.
Asia-pacific Journal of Ophthalmology (philadelphia, Pa.), 0