Associated Papers
Canine Best disease as a translational model.
Aguirre GD et al.
Eye (london, England), 2025
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture.
Meadows JRS et al.
Genome Biology, 2023
Bestrophinopathy: An RPE-photoreceptor interface disease.
Guziewicz KE et al.
Progress in Retinal and Eye Research, 2017
Bestrophin 1 and retinal disease.
Johnson AA et al.
Progress in Retinal and Eye Research, 2017
Canine multifocal retinopathy in the Australian Shepherd: a case report.
Hoffmann I et al.
Veterinary Ophthalmology, 2012
Genetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studies.
Miyadera K et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2012
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
Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.
Guziewicz KE et al.
Investigative Ophthalmology & Visual Science, 2011
Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).
Zangerl B et al.
Molecular Vision, 2010
Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
Schatz P et al.
Investigative Ophthalmology & Visual Science, 2010
Multifocal retinal dysplasia in the German Spitz (Klein and Mittel) is not caused by mutations in BEST1.
Aguirre-Hernández J et al.
Animal Genetics, 2010
Functional roles of bestrophins in ocular epithelia.
Marmorstein AD 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
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
Burgess R et al.
American Journal of Human Genetics, 2008
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.
Guziewicz KE et al.
Investigative Ophthalmology & Visual Science, 2007
Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials.
Amato A et al.
Saudi Journal of Ophthalmology : Official Journal of the Saudi Ophthalmological Society, 0