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
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.
Soto-Sierra M et al.
European Journal of Ophthalmology, 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
Bestrophin 1 and retinal disease.
Johnson AA et al.
Progress in Retinal and Eye Research, 2017
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
Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.
Pomares E et al.
Investigative Ophthalmology & Visual Science, 2012
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