Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
about
Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell modelBestrophin 1 and retinal disease.New best1 mutations in autosomal recessive bestrophinopathy.Nonantibestrophin Anti-RPE Antibodies in Paraneoplastic Exudative Polymorphous Vitelliform Maculopathy.Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 MutationMislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)Directional Fluid Transport across Organ-Blood Barriers: Physiology and Cell Biology.Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.Pharmacological Modulation of Photoreceptor Outer Segment Degradation in a Human iPS Cell Model of Inherited Macular Degeneration.Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular DystrophyBiallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing.Retinitis pigmentosa associated with a mutation in BEST1.Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
P2860
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P2860
Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Disease-causing mutations asso ...... gomerization, of Bestrophin-1.
@en
Disease-causing mutations asso ...... gomerization, of Bestrophin-1.
@nl
type
label
Disease-causing mutations asso ...... gomerization, of Bestrophin-1.
@en
Disease-causing mutations asso ...... gomerization, of Bestrophin-1.
@nl
prefLabel
Disease-causing mutations asso ...... gomerization, of Bestrophin-1.
@en
Disease-causing mutations asso ...... gomerization, of Bestrophin-1.
@nl
P2093
P2860
P1476
Disease-causing mutations asso ...... igomerization, of Bestrophin-1
@en
P2093
Adiv A Johnson
Alan D Marmorstein
Andrew J Chadburn
Lihua Y Marmorstein
Paolo Tammaro
Yong-Suk Lee
P2860
P356
10.1016/J.EXER.2014.02.006
P577
2014-02-19T00:00:00Z