Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.
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Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell modelChanges in the functional characteristics of tumor and normal cells after treatment with extracts of white dead-nettle.Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC)Transepithelial resistance in human bestrophin-1 stably transfected Madin-Darby canine kidney cellsBestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1.BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.
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Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 22 July 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Disease-causing mutations in B ...... rting of bestrophin-1 protein.
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Disease-causing mutations in B ...... rting of bestrophin-1 protein.
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type
label
Disease-causing mutations in B ...... rting of bestrophin-1 protein.
@en
Disease-causing mutations in B ...... rting of bestrophin-1 protein.
@nl
prefLabel
Disease-causing mutations in B ...... rting of bestrophin-1 protein.
@en
Disease-causing mutations in B ...... rting of bestrophin-1 protein.
@nl
P2093
P2860
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Disease-causing mutations in B ...... rting of bestrophin-1 protein.
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Abhay Krishna
Emeline F Nandrot
Giovanna Alfano
Jordan A Doumanov
Maria Luz Bellido Diaz
Marie-Elise Lancelot
Shomi S Bhattacharya
Veselina Moskova-Doumanova
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P304
15121-15140
P356
10.3390/IJMS140715121
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P577
2013-07-22T00:00:00Z