Biallelic mutation of BEST1 causes a distinct retinopathy in humans
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Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosaSOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epitheliumBEST1 expression in the retinal pigment epithelium is modulated by OTX family membersDysregulation of human bestrophin-1 by ceramide-induced dephosphorylationRegulation of bestrophin Cl channels by calcium: role of the C terminusFunctional roles of bestrophins in ocular epitheliaMolecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathiesRestoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell modelInteraction of bestrophin-1 and Ca2+ channel β-subunits: identification of new binding domains on the bestrophin-1 C-terminusFunctional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.Enhanced inflow and outflow rates despite lower IOP in bestrophin-2-deficient mice.Chloride channels: often enigmatic, rarely predictable.Autosomal recessive bestrophinopathy associated with angle-closure glaucomaThe retinal pigment epithelium in health and diseaseBestrophins and retinopathies.Autophagy in the eye: implications for ocular cell health.Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability.Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3).A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1Screening for BEST1 gene mutations in Chinese patients with bestrophinopathyPhenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.Bestrophin 1 and retinal disease.Clinical evaluation of two consanguineous families with homozygous mutations in BEST1BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.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.New best1 mutations in autosomal recessive bestrophinopathy.Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 MutationA novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.Clinicopathologic findings in Best vitelliform macular dystrophy.Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case SeriesThree-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy.BEST1 sequence variants in Italian patients with vitelliform macular dystrophyHuman 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.Molecular chaperones and photoreceptor function.Canine multifocal retinopathy in the Australian Shepherd: a case report
P2860
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P2860
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
@ast
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
@en
type
label
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
@ast
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
@en
prefLabel
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
@ast
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
@en
P2093
P2860
P50
P1476
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
@en
P2093
Andrew R Webster
Bart P Leroy
Elfrida De Baere
Genevieve A Wright
Graham E Holder
Ian D Millar
Ian M Fearon
Peter D Brown
Philippe Kestelyn
Rosemary Burgess
P2860
P356
10.1016/J.AJHG.2007.08.004
P407
P577
2008-01-01T00:00:00Z