Published in Int J Mol Sci on July 22, 2013
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1. Exp Eye Res (2014) 0.88
Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium. Mol Vis (2015) 0.78
Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). Sci Rep (2016) 0.76
Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model. Dis Model Mech (2016) 0.75
Changes in the functional characteristics of tumor and normal cells after treatment with extracts of white dead-nettle. Biotechnol Biotechnol Equip (2014) 0.75
Transepithelial resistance in human bestrophin-1 stably transfected Madin-Darby canine kidney cells. Biotechnol Biotechnol Equip (2014) 0.75
Identification of the gene responsible for Best macular dystrophy. Nat Genet (1998) 4.89
Organization of vesicular trafficking in epithelia. Nat Rev Mol Cell Biol (2005) 4.79
Polarity of epithelial and neuronal cells. Annu Rev Cell Biol (1992) 3.99
The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A (2002) 3.73
Coordinated protein sorting, targeting and distribution in polarized cells. Nat Rev Mol Cell Biol (2008) 3.63
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci U S A (2000) 3.32
Polarized apical distribution of glycosyl-phosphatidylinositol-anchored proteins in a renal epithelial cell line. Proc Natl Acad Sci U S A (1988) 3.19
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev (2008) 2.73
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet (1998) 2.68
Clathrin is a key regulator of basolateral polarity. Nature (2008) 2.67
Histopathology of Best's macular dystrophy. Arch Ophthalmol (1982) 2.46
Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells. FASEB J (2005) 2.39
Polarized sorting in epithelial cells: raft clustering and the biogenesis of the apical membrane. J Cell Sci (2004) 2.35
Structure-function analysis of the bestrophin family of anion channels. J Biol Chem (2003) 2.30
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet (2008) 2.24
The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). J Gen Physiol (2006) 2.18
Apical trafficking in epithelial cells: signals, clusters and motors. J Cell Sci (2009) 2.08
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet (2000) 2.02
Essential role for MFG-E8 as ligand for alphavbeta5 integrin in diurnal retinal phagocytosis. Proc Natl Acad Sci U S A (2007) 1.97
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res (2009) 1.94
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci (2000) 1.84
TREK-1 and Best1 channels mediate fast and slow glutamate release in astrocytes upon GPCR activation. Cell (2012) 1.60
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci (2007) 1.54
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet (2009) 1.53
Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease. Invest Ophthalmol Vis Sci (2007) 1.53
Functional roles of bestrophins in ocular epithelia. Prog Retin Eye Res (2009) 1.52
Expression and localization of bestrophin during normal mouse development. Invest Ophthalmol Vis Sci (2003) 1.45
Best's vitelliform dystrophy. Ophthalmic Paediatr Genet (1990) 1.43
Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation. Arch Ophthalmol (2005) 1.42
Bestrophin Cl- channels are highly permeable to HCO3-. Am J Physiol Cell Physiol (2008) 1.35
Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. J Biol Chem (2006) 1.32
Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia. J Biol Chem (2006) 1.31
Mechanisms and functional features of polarized membrane traffic in epithelial and hepatic cells. Biochem J (1998) 1.31
The basolateral targeting signal of CD147 (EMMPRIN) consists of a single leucine and is not recognized by retinal pigment epithelium. Mol Biol Cell (2004) 1.27
A model of best vitelliform macular dystrophy in rats. Invest Ophthalmol Vis Sci (2004) 1.23
Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration. Physiology (Bethesda) (2005) 1.23
Origin and sensitivity of the light peak in the intact cat eye. J Physiol (1982) 1.23
Cloning and characterization of the murine Vmd2 RFP-TM gene family. Cytogenet Genome Res (2004) 1.20
Focus on molecules: bestrophin (best-1). Exp Eye Res (2006) 1.19
Bestrophin interacts physically and functionally with protein phosphatase 2A. J Biol Chem (2002) 1.13
Epithelial polarity: sorting out the sorters. Curr Biol (2000) 1.04
Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance. J Cell Sci (2011) 1.02
Fast and slow oscillations of the electro-oculogram in Best's macular dystrophy and retinitis pigmentosa. Arch Ophthalmol (1989) 1.00
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. Invest Ophthalmol Vis Sci (2011) 0.94
Functional properties of murine bestrophin 1 channel. Biochem Biophys Res Commun (2009) 0.93
Regulation of bestrophins by Ca2+: a theoretical and experimental study. PLoS One (2009) 0.93
Interaction of bestrophin-1 and Ca2+ channel β-subunits: identification of new binding domains on the bestrophin-1 C-terminus. PLoS One (2011) 0.91
Channel-mediated astrocytic glutamate release via Bestrophin-1 targets synaptic NMDARs. Mol Brain (2013) 0.90
Dysregulation of human bestrophin-1 by ceramide-induced dephosphorylation. J Physiol (2009) 0.89
Polarity and lipid raft association of the components of the ciliary neurotrophic factor receptor complex in Madin-Darby canine kidney cells. J Cell Sci (2004) 0.86
Drosophila bestrophin-1 currents are regulated by phosphorylation via a CaMKII dependent mechanism. PLoS One (2013) 0.81
Identification of a basolateral sorting signal within the cytoplasmic domain of the interleukin-6 signal transducer gp130. Cell Signal (2005) 0.80
Increased association with detergent-resistant membranes/lipid rafts of apically targeted mutants of the interleukin-6 receptor gp80. Eur J Cell Biol (2005) 0.77
Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med (2008) 15.30
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Interim results from the international trial of Second Sight's visual prosthesis. Ophthalmology (2012) 3.35
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet (2010) 3.20
Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol (2004) 2.85
Fox's in development and disease. Trends Genet (2003) 2.80
Identification and characterization of rod-derived cone viability factor. Nat Genet (2004) 2.63
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet (2008) 2.46
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.34
Using spectral-domain optical coherence tomography imaging to identify the presence of retinal silicone oil emulsification after silicone oil tamponade. Retina (2013) 2.22
Role of hyaluronidase in diplopia after peribulbar anesthesia for cataract surgery. Ophthalmology (2005) 2.10
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet (2012) 1.86
Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Invest Ophthalmol Vis Sci (2003) 1.85
Panretinal, high-resolution color photography of the mouse fundus. Invest Ophthalmol Vis Sci (2007) 1.82
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis (2012) 1.79
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci (2004) 1.69
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet (2006) 1.63
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat (2009) 1.60
High resolution fundus imaging by confocal scanning laser ophthalmoscopy in the mouse. Vision Res (2005) 1.59
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
Foveal damage in habitual poppers users. Arch Ophthalmol (2011) 1.56
Poppers-associated retinal toxicity. N Engl J Med (2010) 1.54
Functional cone rescue by RdCVF protein in a dominant model of retinitis pigmentosa. Mol Ther (2009) 1.53
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet (2009) 1.52
Inherited retinal degenerations: therapeutic prospects. Biol Cell (2004) 1.44
Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci (2005) 1.42
CCR2(+) monocytes infiltrate atrophic lesions in age-related macular disease and mediate photoreceptor degeneration in experimental subretinal inflammation in Cx3cr1 deficient mice. EMBO Mol Med (2013) 1.42
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis (2010) 1.41
En Face OCT Imaging for the Diagnosis of Outer Retinal Tubulations in Age-Related Macular Degeneration. J Ophthalmol (2012) 1.39
Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development (2002) 1.39
EYS is a major gene for rod-cone dystrophies in France. Hum Mutat (2010) 1.39
A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. Mol Vis (2006) 1.38
Optical coherence tomography findings in tamoxifen retinopathy. Am J Ophthalmol (2005) 1.36
CRB1 mutations in inherited retinal dystrophies. Hum Mutat (2011) 1.34
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet (2007) 1.33
Foveal shape and structure in a normal population. Invest Ophthalmol Vis Sci (2011) 1.32
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet (2006) 1.29
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat (2010) 1.26
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Arch Ophthalmol (2004) 1.25
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25
Anxiety and depression prevalence rates in age-related macular degeneration. Invest Ophthalmol Vis Sci (2007) 1.25
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci (2005) 1.25
Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2010) 1.24
CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS Genet (2012) 1.24
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat (2007) 1.23
Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene. Invest Ophthalmol Vis Sci (2005) 1.22
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet (2001) 1.22
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet (2004) 1.22
An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. Invest Ophthalmol Vis Sci (2007) 1.21
Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet (2002) 1.20
Rod-derived cone viability factor for treating blinding diseases: from clinic to redox signaling. Sci Transl Med (2010) 1.20
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.18
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Hum Mol Genet (2012) 1.18
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet (2008) 1.16
Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice. J Cell Biol (2012) 1.16
Retinal degenerations: from cell signaling to cell therapy; pre-clinical and clinical issues. Curr Gene Ther (2007) 1.15
An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders. Genomics (2002) 1.15
The glutamate transporter EAAT5 works as a presynaptic receptor in mouse rod bipolar cells. J Physiol (2006) 1.15
Identification and characterization of a novel RPGR isoform in human retina. Hum Mutat (2007) 1.13
Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2007) 1.13
Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol (2012) 1.12
A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p. Hum Genet (2005) 1.12
Dominant cataract formation in association with a vimentin assembly disrupting mutation. Hum Mol Genet (2009) 1.12
Retinal inner nuclear layer microcystic changes in optic nerve atrophy: a novel spectral-domain OCT finding. Retina (2013) 1.11
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. Hum Mol Genet (2002) 1.11
Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci (2009) 1.10