Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.

Scientific reports - 13 Dec 2019

Ji Changyi, Li Yao, Kittredge Alec, Hopiavuori Austin, Ward Nancy, Yao Peng, Fukuda Yohta, Zhang Yu, Tsang Stephen H, Yang Tingting

Abstract excerpt

BEST1 is a Ca2+-activated Cl- channel predominantly expressed in retinal pigment epithelium (RPE), and over 250 genetic mutations in the BEST1 gene have been identified to cause retinal degenerative disorders generally known as bestrophinopathies. As most BEST1 mutations are autosomal dominant, it is of great biomedical interest to determine their disease-causing mechanisms and the therapeutic potential of gene...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bestrophins
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Mutation

Share to Phenotype

Share to Retinal Pigment Epithelium

Share to Vitelliform Macular Dystrophy

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 31836750
DOI: 10.1038/s41598-019-54892-7
PMCID: PMC6910965

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.PMID 31836750Read ↗

Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations.Semantic proximity Read ↗

Bestrophin 1 and retinal disease.Semantic proximity Read ↗

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.Semantic proximity Read ↗

Functional roles of bestrophins in ocular epithelia.Semantic proximity Read ↗

Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.Semantic proximity Read ↗

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.Semantic proximity Read ↗

Evaluating BEST1 mutations in pluripotent stem cell-derived retinal pigment epithelial cells.Semantic proximity Read ↗

Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.Semantic proximity Read ↗

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations.Semantic proximity Read ↗

Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing.Semantic proximity Read ↗

Bestrophin1: A Gene that Causes Many Diseases.Semantic proximity Read ↗

Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.