Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease
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Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaDysregulation of human bestrophin-1 by ceramide-induced dephosphorylationRegulation of bestrophin Cl channels by calcium: role of the C terminusFunctional roles of bestrophins in ocular epitheliaCanine retina has a primate fovea-like bouquet of cone photoreceptors which is affected by inherited macular degenerationsMolecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathiesGenetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studiesThe best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains.Biallelic mutation of BEST1 causes a distinct retinopathy in humansProgressive retinal atrophy in the Border Collie: a new XLPRA.Bestrophins and retinopathies.A novel form of progressive retinal atrophy in Swedish vallhund dogsIdentification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studiesAssessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).The genetics of eye disorders in the dogBestrophin 1 and retinal disease.Evaluation of lateral spread of transgene expression following subretinal AAV-mediated gene delivery in dogsTranscriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.Translational models of ocular disease.The domestic cat as a large animal model for characterization of disease and therapeutic intervention in hereditary retinal blindness.A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.Quantitative fundus autofluorescence and optical coherence tomography in best vitelliform macular dystrophy.Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.Increased expression of MERTK is associated with a unique form of canine retinopathyMultifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation.Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders.Human photoreceptor outer segments shorten during light adaptation.Rescue of volume-regulated anion current by bestrophin mutants with altered charge selectivity.Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.Canine multifocal retinopathy in the Australian Shepherd: a case reportPhenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.The use of canine models of inherited retinal degeneration to test novel therapeutic approaches.Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.Modeling the structural consequences of BEST1 missense mutations.Dog models for blinding inherited retinal dystrophiesInherited retinal diseases in dogs: advances in gene/mutation discoveryAnimal modelling for inherited central vision loss.
P2860
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P2860
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Bestrophin gene mutations caus ...... animal model for best disease
@ast
Bestrophin gene mutations caus ...... animal model for best disease
@en
type
label
Bestrophin gene mutations caus ...... animal model for best disease
@ast
Bestrophin gene mutations caus ...... animal model for best disease
@en
prefLabel
Bestrophin gene mutations caus ...... animal model for best disease
@ast
Bestrophin gene mutations caus ...... animal model for best disease
@en
P2093
P2860
P356
P1476
Bestrophin gene mutations caus ...... animal model for best disease
@en
P2093
Barbara Zangerl
Bruce H Grahn
Gregory M Acland
Gustavo D Aguirre
Karina E Guziewicz
Lynne S Sandmeyer
Sarah J Lindauer
P2860
P304
P356
10.1167/IOVS.06-1374
P407
P577
2007-05-01T00:00:00Z