Associated Papers
Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.
Sæther E et al.
Acta Ophthalmologica, 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
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
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 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
Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.
Shi J et al.
Bmc Ophthalmology, 2023
Exonic Variants that Affect Splicing - An Opportunity for "Hidden" Mutations Causing Inherited Retinal Diseases.
Sundaresan Y et al.
Advances in Experimental Medicine and Biology, 2023
Autosomal Dominant Vitreoretinochoroidopathy With a Novel BEST1 Mutation and a Review of Reported Mutations.
Komro J et al.
Cureus, 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
Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree.
da Palma MM et al.
Bmj Open Ophthalmology, 2021
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.
Boulanger-Scemama E et al.
Retina (philadelphia, Pa.), 2019
A novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype.
Mano F et al.
Ophthalmic Genetics, 2018
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Carter DA et al.
Scientific Reports, 2016
Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1.
Kellner S et al.
Ophthalmic Genetics, 2016
Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1.
Chen CJ et al.
Ophthalmic Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Boulanger-Scemama E et al.
Orphanet Journal of Rare Diseases, 2015
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
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
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
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.
Vincent A et al.
Eye (london, England), 2011
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
Burgess R et al.
Journal of Medical Genetics, 2009
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ et al.
Progress in Retinal and Eye Research, 2009
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.
Hartzell HC et al.
Physiological Reviews, 2008
The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function.
Yu K et al.
Investigative Ophthalmology & Visual Science, 2006
[VMD2 and its role in Best's disease and other retinopathies].
Stöhr H et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Yardley J et al.
Investigative Ophthalmology & Visual Science, 2004