Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
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SOX9, through interaction with microphthalmia-associated transcription factor (MITF) and OTX2, regulates BEST1 expression in the retinal pigment epitheliumRetinal dystrophies, genomic applications in diagnosis and prospects for therapyThe cataract-associated protein TMEM114, and TMEM235, are glycosylated transmembrane proteins that are distinct from claudin family membersRestoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell modelStoichiometry and specific assembly of Best ion channelsA Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States.Autosomal recessive bestrophinopathy associated with angle-closure glaucomaThe retinal pigment epithelium in health and diseaseBestrophins and retinopathies.Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium.mTOR-mediated dedifferentiation of the retinal pigment epithelium initiates photoreceptor degeneration in mice.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 BEST1Structure and selectivity in bestrophin ion channels.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.Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients.Structure and insights into the function of a Ca(2+)-activated Cl(-) channel.MiR-204 is responsible for inherited retinal dystrophy associated with ocular colobomaAutosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 MutationThree-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 dystrophyPhasing and structure of bestrophin-1: a case study in the use of heavy-atom cluster compounds with multi-subunit transmembrane proteins.Human photoreceptor outer segments shorten during light adaptation.Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial casesDisease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration.Distinct regions that control ion selectivity and calcium-dependent activation in the bestrophin ion channel.BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.The molecular basis of retinal dystrophies in pakistan.Multimodal analysis of the progression of Best vitelliform macular dystrophy.Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa.
P2860
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P2860
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
description
2009 nî lūn-bûn
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2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
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2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@ast
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@en
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@en-gb
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@nl
type
label
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@ast
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@en
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@en-gb
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@nl
prefLabel
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@ast
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@en
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@en-gb
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@nl
P2093
P2860
P3181
P1476
Missense mutations in a retina ...... -1, cause retinitis pigmentosa
@en
P2093
Alice E Davidson
Andrew J Lotery
Forbes D C Manson
Geoffrey J Maher
Graeme C M Black
Ian D Millar
James O'Sullivan
Martin McKibbin
Neil Parry
Peter D Brown
P2860
P304
P3181
P356
10.1016/J.AJHG.2009.09.015
P407
P577
2009-11-01T00:00:00Z