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BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.

Human molecular genetics - 1 Jul 2016

Moshfegh Yasmin, Velez Gabriel, Li Yao, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen H

Abstract excerpt

Bestrophin1 (BEST1) is expressed in human retinal pigment epithelium (RPE) and mutations in the BEST1 gene commonly cause retinal dysfunction and macular degeneration. BEST1 is presumed to assemble into a calcium-activated chloride channel and be involved in chloride transport but there is no direct evidence in live human RPE cells to support this idea. To test whether BEST1 functions as a chloride channel in...

Topics

Bestrophins
Calcium Signaling
Chloride Channels
Chlorides
Eye Proteins
Humans
Induced Pluripotent Stem Cells
Mutation
Retinal Pigment Epithelium
Vitelliform Macular Dystrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27193166
DOI: 10.1093/hmg/ddw126
PMCID: PMC5181636

Genes

RPE
BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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