Property Summary

NCBI Gene PubMed Count 131
PubMed Score 454.25
PubTator Score 288.30

Knowledge Summary

Patent (14,174)

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma -1.100 3.5e-06
osteosarcoma 1.570 1.4e-06
tuberculosis and treatment for 6 months -1.400 2.2e-05
lung cancer -1.400 6.0e-04
atypical teratoid/rhabdoid tumor -1.300 2.3e-05
group 4 medulloblastoma -1.200 3.1e-03
ovarian cancer -1.100 7.0e-05

Gene RIF (101)

PMID Text
26849243 Progressive posterior chorioretinal changes occurred over time in the initial ADVIRC proband, leading to visual loss. The causative mutation in this patient falls in the transmembrane domain of the BEST1 protein, with unclear functional consequences.
26720466 HEK293T cells transfected with the identified BEST1 mutant showed significantly small currents compared to those transfected with the wild-type gene, whereas cells cotransfected with mutant and wild-type BEST1 showed good chloride conductance
26521045 Nuclear spheres modulate the expression of BEST1 and GADD45G
26201355 Twelve different variants, two of which (p.S7N and p.P346H) were novel, were identified in the 13 Japanese families with Best's vitelliform macular dystrophy.
26200502 Best1 I366fsX18 differs from Best1 in that it lacks most of the cytosolic C-terminal domain, suggesting that the loss of this region contributes significantly to the pathogenesis of ARB in this patient.
26099059 Genetic sequence analysis of BEST1 is important in the diagnosis of Best vitelliform dystrophy, particularly in unusual cases, and helps to further our knowledge and understanding of this disease.
25941382 Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.
25936525 Two novel BEST1 mutations and associated clinical observations have been found in two unrelated patients with Best vitelliform macular dystrophy.
25878489 BEST1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.
25545482 Three novel BEST1 mutations are described, suggesting that many deleterious variants in BEST1 resulting in haploinsufficiency are still unknown.
25489231 The features and combinations of different BEST1 mutations as well as epistatic effects may influence phenotype expression in Chinese patients with bestrophinopathy.
25265375 We describe a novel mutation within the BEST1 gene of the heterozygous form giving rise to vitelliform lesions and secondary neovascularization successfully treated in a child with a course of bevacizumab.
24859690 We describe the clinical and genetic characteristics of a young male diagnosed with autosomal recessive bestrophinopathy associated with angle-closure glaucoma resulting from a novel homozygous mutation in BEST1.
24664688 Bestrophin-1 functions as an intracellular Cl channel which helps to accumulate and to release Ca(2+) from stores by conducting the counterion for Ca(2+).
24560797 Our current and past results indicate that mislocalization of Best1 is not an absolute feature of any individual bestrophinopathy.
24345323 Because of a relatively well preserved retinal function, autosomal recessive bestrophinopathy may be a suitable first candidate, among the BEST1-related ocular conditions, for gene replacement therapy.
24341532 Best1V1 and Best1V1Deltaex2 formed Ca2+-activated Cl-channels, showing that the N-terminus is not essential for channel function. Best1V2-expressing cells had no detectable Ca2+-activated Cl-currents, pointing to a critical role for splicing of C-terminus.
24328569 Dysfunction of bestrophin 1 may result in abnormal ion and fluid transport by the retinal pigment epithelium (RPE) disturbing and even disrupting direct interactions between the RPE and the photoreceptors.
23880862 Three basolateral sorting motifs might be implicated in proper Best1 basolateral localization.
23825107 Results show that different mutations in Best1 cause differential effects on its localization and that this effect varies with the presence or absence of wild-type (WT) Best1.
23823511 In a large consanguineous family, the cosegregation of p.C251Y with a coherent ocular phenotype in all 5 patients strongly suggests traits associated with BEST1 homozygous mutations: ARB, angle-closure glaucoma, hyperopia, and cataracts.
23572118 Case Reports: siblings with missense mutation in BEST1 with retinoschisis and best vitelliform macular dystrophy.
23290749 Autosomal recessive bestrophinopathy is a recognizable phenotype caused by autosomal recessively inherited mutations in the BEST1 gene.
23213274 Ten variants in the BEST1 gene were detected in a group of Italian patients with clinically apparent vitelliform macular dystrophy.
22633354 Our data expand the mutation spectrum of BEST1 in patients with Best disease. Our frequency estimate confirms that Best disease is one of the most common causes of early macular degeneration.
22584882 This case of unilateral vitelliform phenotype further supports the notion that autosomal recessive bestrophinopathy represents a disease spectrum in terms of severity, age at onset and heritability.
22448417 report for the first time a phenotype-genotype correlation in a Czech patient with Best disease
22422030 Autosomal recessive Best vitelliform macular dystrophy can be caused by the compound heterozygous mutation L41P and I201T in the BEST1 gene.
22199244 In truncating BEST1 mutations, the null phenotype associated with ARB is attributed to a substantial decrease of BEST1 expression promoted by the nonsense-mediated decay (NMD) surveillance mechanism.
22183385 Bestrophinopathies are a group of inherited retinal disorders primarily caused by point mutations scattered throughout the BEST1 gene.
22183384 BEST1 regulated cell function in the cytosol by regulating calcium signaling.
22174098 Molecular screening of the candidate genes BEST1 and PRPH2 revealed no mutations.
22162627 Biallelic BEST1 sequence variants can be associated with at least two different phenotypes: Best vitelliform macular dystrophy and autosomal recessive bestrophinopathy.
21921978 Missense mutation in the BEST1 gene is associated with the retinal pigment epithelium dysfunction but a near normal electrooculographic light rise in two affected families.
21809908 Two siblings with homozygous Arg141His mutation developed symptoms of typical Best vitelliform dystrophy while their parents had clinical features of mild maculopathy.
21738390 A great clinical variability is associated with homozygous mutations in BEST1, ranging from severe dominant Best vitelliform macular dystrophy with reduced penetrance in heterozygotes to autosomal recessive bestrophinopathy.
21559412 analysis of binding domains on the bestrophin-1 C-terminus that have a role in interaction of bestrophin-1 and Ca2+ channel beta-subunits
21498618 The in vitro model accurately recapitulates transcriptional and translational expression events observed in vivo and, thus, implies loss of bestrophin-1 function in cmr1-dogs and Y(29)X-affected patients.
21473666 Best vitelliform macular dystrophy could be associated with anterior segment abnormalities such as shallow anterior chambers, closed/narrow anterior chamber angles and angle-closure glaucoma.
21467170 We show here that the typical vitelliform phenotype of Best disease, usually transmitted in an autosomal dominant fashion, can be inherited as an autosomal recessive disease due to homozygosity for a frameshift mutation.
21436265 Subclinical Best vitelliform macular dystrophy (absence of both symptoms and funduscopic lesions) in subjects with BEST1 mutation may vary from the absence of any morphologic and functional abnormalities to the presence of specific changes
21330666 Differences in cellular processing mechanisms for different autosomal recessive bestrophinopathy associated mutants lead to the same disease phenotype.
21320969 Choroidal neovascularization treatment with bevacizumab was associated with vision restoration. Amblyopia treatment also yielded significant benefit.
21293734 analysis of a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy
21273940 The authors provide evidence that two abnormal BEST1 alleles, neither of which causes macular disease alone, can act in concert to cause early-onset vitelliform macular dystrophy.
21269699 BEST1 screening should be recommended to patients with an age of onset less than 40 years
21203346 The novel BEST1 variant identified, c.102C>T p.Gly34Gly, alters pre-mRNA splicing in vitro and is potentially pathogenic.
21192766 A patient with biallelic mutations of the BEST1 gene, causing multifocal BVMD with progressive, widespread functional disturbance of the retina, confirmed by full-field and mfERG is described.
21109774 a novel BEST1 mutations in vitelliform macular dystrophy patinets from Australia
21077756 Our results add to the clinical, imaging, and molecular knowledge of Best disease and suggest that OCT can recognize retinal lesions in some asymptomatic carriers of BEST1 mutations as early as 8 years of age.
21072067 A heterozygous change, p.V86M (c.256G > A), was identified in the BEST1 gene in the three affected subjects tested, and was shown to segregate with the disease phenotype.
20801516 Observational study of genetic testing. (HuGE Navigator)
20530484 SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium.
20381869 Age of onset of visual symptoms varies greatly among patients with vitelliform macular dystrophy.
20375334 The finding of a homozygous dominant mutation in a patient with VMD and evidence of widespread retinal degeneration may imply that the pathogenesis of the generalized retinal degeneration differs from that of the macular degeneration
20349192 dysfunction of hBest1 in different retinopathies can cause different disease phenotypes, and it is likely that multiple genetic and environmental factors may be involved in these retinopathies[review]
20238019 Transcription of VMD2 gene may occur in progenitors of Muller cells.
20057903 BEST1 mutations were not correlated with the severity of the functional and clinical data in the Best vitelliform macular dystrophy patients examined.
20057343 A large number of unique novel missense mutations was found in Chinese patients, suggesting considerable interethnic differences between the mutation sites in the BEST1 gene in different populations.
19853238 Missense mutations in a retinal pigment protein, BEST1, cause retinitis pigmentosa.
19823864 Data demonstrate that bestrophin 1 is localized in the endoplasmic reticulum (ER), where it interacts with the ER-Ca(2+) sensor and can enhance Ca(2+) signaling and activation of Ca(2+)-dependent Cl(-) (TMEM16A) and K(+) (SK4) channels.
19635817 Our results support a model in which ceramide accumulation during early stages of retinopathy inhibits hBest1 function, leading to abnormal fluid transport across the retina, and enhanced inflammation.
19597114 Patients with the Glu292Lys variation in BEST1 exhibit intrafamilial and interfamilial phenotypic variability.
19398034 we examine data obtained from tissue-type and animal models and discuss the current state of bestrophin research, what roles Best1 may play in ocular epithelia and electrophysiology, how perturbation of these functions may result in disease. [REVIEW]
19375515 The genotype-phenotype correlations that are observed in association with BEST1 mutations are discussed. Describes the spectrum of phenotypes.[REVIEW]
19372599 hBest1 functions as a multimer in the plasma membrane, and disruption of the N-C interaction by mutations leads to hBest1 channel dysfunction
19357557 A broad phenotypic variability may be observed in Best vitelliform macular dystrophy (BVMD), even with a single BEST1 mutation.
19262692 homology models were constructed of human Best1 Asp-rich domain using thrombospondin-1 X-ray structure as a template. Molecular dynamics simulations identified Asp and Glu residues binding Ca2+ and predicted the effects of their mutations to alanine.
19237432 Results provide evidence that the bestrophins are expressed in pancreatic duct cells and, more specifically, that hBest1 plays a role in the calcium activated chloride channels found in these cells.
19029375 The (293-308) acidic aa in the C terminus, followed by an EF hand (D312G and D312G and D323N mutations dramatically reduced the apparent Ca2+ affinity) and another regulatory domain (350-390) are essential for Ca2+ sensing.
18849347 OTR1, OTX2 and CRX act as positive modulators of the BEST1 promoter in the retinal pigment epithelium.
18766995 The Val-242-Met mutation is associated with a late-onset visual disturbance and the Arg-218-Cys mutation was associated with marked intra-familial clinical variability of expression.
18611979 This study describes a novel autosomal dominant vitreoretinochoroidopathy (ADVIRC) BEST1 mutation and shows that it disrupts an exonic splice enhancer (ESE) site, altering the binding of a splicing-associated SR protein.
18414923 We found that mouse exocrine glands expressed an alternately spliced variant of Best3, a member of the Bestrophin (Vmd2) Ca2+-activated Cl channel gene family, whereas the heart expressed full-length Best3.
18400985 Disease-causing mutations in hBest1 may produce disease by altering HCO3(-) homeostasis as well as Cl(-) transport in the retina.
18222922 Eag1 and Best1 improve intracellular Ca(2+) signaling and cell volume regulation.
18179881 Study demonstrates that homozygous or compound heterozygous sequence variants in BEST1 cause a retinal phenotype that termed autosomal-recessive bestrophinopathy.
17698758 Multifocal vitelliform dystrophy is a clinically and genetically heterogeneous retinal disease that can be caused by mutations in the VMD2 gene.
17646752 A novel mutation (R218G), probably involving a functionally active region of the bestrophin protein, was found in Italian families with differing Best disease phenotypes.
17591911 Topographic differences in the levels of bestrophin protein may in part explain the propensity for the macula to develop lesions in Best disease.
17468957 Basolateral Cl(-) channels play a major role in the NO-dependent regulation of anion secretion in Calu-3 cells.
17361457 bestrophin could be particularly important in diseases such as cystic fibrosis and secretory diarrhea--REVIEW
17287362 6 new VMD2 mutations were identified, located exclusively in exons 4, 6 & 8. Q293H is non-functional & inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner.
17110374 our data suggest a topological model of bestrophin-1 with four transmembrane-spanning segments and one large cytoplasmatic loop between putative TMD2 and TMD5
17065513 The disease-causing A243V mutation is associated with altered hBest1 Cl(-) channel activity.
17003041 BEST1 may form the Ca2+-activated Cl(-) current, or it may be a component of a Cl(-) channel complex in epithelial tissues.
16885924 Although RDS and VMD2 are the only known genes with mutations contributing to adult-onset vitelliform macular dystropht, our series demonstrates that most patients have mutations in genes that have yet to be discovered.
16769844 A novel de novo mutation in the VMD2 gene was found in a patient whose phenotype and electro-oculographic findings were characteristic of Best macular dystrophy
16754206 A previously undescribed severe form of Best macular dystrophy is associated with compound heterozygous mutations in VMD2.
16707793 Understanding the structure of the anion conduction pathway of bestrophins provides insights into how mutations produce channel dysfunction and may provide important information for development of therapeutic strategies for treating macular degeneration.
16612637 In the present series I295del, the most frequent mutation in our study, and N99K showed reduced penetrance. EOG was normal in young patients even if prime signs were visible.
15808248 Best-like lesions may develop in older patients without associated VMD2 mutations.
15556645 VMD2 has a role in airway epithelial ion transport.
15452077 The data showed that VMD2 mutations caused defects of ocular patterning
14982938 studies define the VMD2 promoter region sufficient to drive retinal pigment epithelium-specific expression, identify positive regulatory regions, and suggest that MITF as well as other E-box binding factors act as positive regulators of VMD2 expression
13129869 All family members with maculopathy consistent with Best disease (n = 10) had an amino acid-changing mutation in the VMD2 gene.
12907679 analysis of bestrophin mutations to identify regions responsible for distinctive plasma membrane conductance
12058047 Bestrophin modulates the light peak of the electrooculogram, that it is regulated by phosphorylation.
11913792 the gene causing the Best's macular dystrophy (bestrophin) encodes a putative ion exchanger
11904445 Using heterologous expression, we show here that human, Drosophila, and C. elegans bestrophins form oligomeric chloride channels, and that human bestrophin is sensitive to intracellular calcium
11271465 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYYIIRFIYRLALTEEQQLMFEKLTLYCD      1 - 70
SYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQGRLLRRTLIRYANLGNVLIL     71 - 140
RSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSL    141 - 210
LNEMNTLRTQCGHLYAYDWISIPLVYTQVVTVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQ    211 - 280
FFFYVGWLKVAEQLINPFGEDDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAA    281 - 350
SAQFRRASFMGSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESL    351 - 420
LHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFPLEPSAPSKLH    421 - 490
SVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSP    491 - 560
TNIHTTLKDHMDPYWALENRDEAHS                                                 561 - 585
//

Text Mined References (131)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26849243 2016 Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1.
26720466 2015 A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
26521045 2016 Nuclear spheres modulate the expression of BEST1 and GADD45G.
26201355 2015 Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.
26200502 2015 Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.
26099059 2015 Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
25941382 2015 Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.
25936525 2015 Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.
25878489 2015 Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.
25545482 2015 New best1 mutations in autosomal recessive bestrophinopathy.
25489231 2014 Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.
25265375 2015 Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy.
24859690 2014 Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.
24823311 2014 Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
24664688 2014 The role of bestrophin-1 in intracellular Ca(2+) signaling.
24560797 2014 Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
24345323 2014 Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.
24341532 2014 Effects of alternative splicing on the function of bestrophin-1 calcium-activated chloride channels.
24328569 2015 Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.
23880862 2013 Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.
23825107 2013 Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking.
23823511 2013 A novel homozygous BEST1 mutation correlates with complex ocular phenotypes.
23572118 2013 Novel mutation in BEST1 associated with retinoschisis.
23290749 2013 Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
23213274 2012 BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.
22675492 2012 Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
22633354 2012 Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.
22584882 2012 Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy.
22448417 [Minimal ocular findings in a patient with Best disease caused by the c.653G>A mutation in BEST1].
22422030 2012 A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.
22199244 2012 Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.
22183385 2012 Modeling the structural consequences of BEST1 missense mutations.
22183384 2012 A potential cytosolic function of bestrophin-1.
22174098 2012 Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
22162627 2011 Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.
21921978 2011 Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.
21829377 2011 Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
21809908 2012 Phenotype and genotype of patients with autosomal recessive bestrophinopathy.
21738390 2011 Clinical evaluation of two consanguineous families with homozygous mutations in BEST1.
21559412 2011 Interaction of bestrophin-1 and Ca2+ channel ?-subunits: identification of new binding domains on the bestrophin-1 C-terminus.
21498618 2011 Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.
21473666 2011 Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy.
21467170 2011 A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.
21436265 2011 The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.
21330666 2011 Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
21320969 2011 Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications.
21293734 2011 Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
21273940 2011 Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients.
21269699 2011 Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
21203346 2010 A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1.
21192766 2011 Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
21109774 2011 Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
21077756 2011 OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.
21072067 2011 BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20530484 2010 SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epithelium.
20381869 2010 Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.
20375334 2010 Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.
20349192 2010 Bestrophins and retinopathies.
20238019 2010 Unexpected transcriptional activity of the human VMD2 promoter in retinal development.
20057903 2009 Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.
20057343 2010 Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy.
19853238 2009 Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
19823864 2010 ER-localized bestrophin 1 activates Ca2+-dependent ion channels TMEM16A and SK4 possibly by acting as a counterion channel.
19635817 2009 Dysregulation of human bestrophin-1 by ceramide-induced dephosphorylation.
19597114 2009 Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.
19398034 2009 Functional roles of bestrophins in ocular epithelia.
19375515 2009 The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
19372599 2009 Human disease-causing mutations disrupt an N-C-terminal interaction and channel function of bestrophin 1.
19357557 2009 Clinical and molecular genetic analysis of best vitelliform macular dystrophy.
19262692 2009 Regulation of bestrophins by Ca2+: a theoretical and experimental study.
19237432 2009 Bestrophin expression and function in the human pancreatic duct cell line, CFPAC-1.
19029375 2008 Regulation of bestrophin Cl channels by calcium: role of the C terminus.
18849347 2009 BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.
18766995 2008 Mutation analysis of the VMD2 gene in thai families with best macular dystrophy.
18611979 2009 ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.
18414923 2008 A variant of the Ca2+-activated Cl channel Best3 is expressed in mouse exocrine glands.
18400985 2008 Bestrophin Cl- channels are highly permeable to HCO3-.
18222922 2008 Eag1 and Bestrophin 1 are up-regulated in fast-growing colonic cancer cells.
18179881 2008 Biallelic mutation of BEST1 causes a distinct retinopathy in humans.
17698758 2007 Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.
17646752 2007 A novel mutation in the VMD2 gene in an Italian family with Best maculopathy.
17591911 2007 Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.
17468957 2006 Regulation of basolateral Cl(-) channels in airway epithelial cells: the role of nitric oxide.
17361457 2007 Calcium-dependent chloride conductance in epithelia: is there a contribution by Bestrophin?
17287362 2007 New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.
17110374 2007 Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane.
17065513 2006 The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function.
17003041 2009 Bestrophin-1 enables Ca2+-activated Cl- conductance in epithelia.
16885924 2006 Peripherin/RDS and VMD2 mutations in macular dystrophies with adult-onset vitelliform lesion.
16769844 2006 Novel de novo mutation in a patient with Best macular dystrophy.
16754206 2006 Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.
16707793 2006 The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration.
16612637 2006 Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy.
15808248 2005 Late onset is common in best macular dystrophy associated with VMD2 gene mutations.
15556645 2004 The role of bestrophin in airway epithelial ion transport.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15452077 2004 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
15176385 2004 Gene Symbol: VMD2. Disease: Best vitelliform macular dystrophy (VMD2).
14982938 2004 Analysis of the VMD2 promoter and implication of E-box binding factors in its regulation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14517959 2003 Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).
13129869 2003 Phenotype and genotype correlations in two best families.
12907679 2003 Structure-function analysis of the bestrophin family of anion channels.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12324875 2002 Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy.
12187431 2002 Identification of a novel VMD2 mutation in Japanese patients with Best disease.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
12058047 2002 Bestrophin interacts physically and functionally with protein phosphatase 2A.
12032738 2002 Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.
11904445 2002 The vitelliform macular dystrophy protein defines a new family of chloride channels.
11449320 2001 Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.
11271465 2001 Lack of association of mutations of the bestrophin gene with age-related macular degeneration in non-familial Japanese patients.
11241846 2001 Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy.
11050159 2000 Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium.
10854112 2000 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.
10798642 2000 Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
10766140 2000 Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
10737974 2000 VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
10682987 2000 A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case.
10453731 1999 Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.
10394929 1999 The mutation spectrum of the bestrophin protein--functional implications.
10331951 1999 Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.
9700209 1998 Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).
9679014 1998 New gene found for inherited macular degeneration.
9662395 1998 Identification of the gene responsible for Best macular dystrophy.
9445487 1998 A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1.
1395087 1992 The gene for Best's macular dystrophy is located at 11q13 in a Swedish family.
1302019 1992 Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.
838599 1977 Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden.