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Article

Suppression of Ca2+ signaling in a mouse model of Best disease.

Human molecular genetics - 15 Mar 2010

Zhang Youwen, Stanton J Brett, Wu Jiang, Yu Kuai, Hartzell H Criss, Peachey Neal S, Marmorstein Lihua Y, Marmorstein Alan D

Abstract excerpt

Mutations in BEST1, encoding bestrophin-1 (Best1), cause Best vitelliform macular dystrophy (BVMD), a dominantly inherited macular degeneration characterized by a diminished electrooculogram light peak (LP), lipofuscin in retinal pigment epithelial cells (RPE), and fluid- and debris-filled retina...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 20053664
DOI: 10.1093/hmg/ddp583
PMCID: PMC2830833

Genes

RPE
BEST1
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20053664-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Suppression of Ca2+ signaling in a mouse model of Best disease.PMID 20053664Read ↗

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

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

The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1).Semantic proximity Read ↗

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Bestrophin 1 and retinal disease.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 ↗

Contribution of Ion Channels in Calcium Signaling Regulating Phagocytosis: MaxiK, Cav1.3 and Bestrophin-1.Semantic proximity Read ↗

iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degenerationSemantic proximity Read ↗

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

[Best's disease. Overview of pathology and its causes].Semantic proximity Read ↗

Bestrophin 1--Phenotypes and Functional Aspects in Bestrophinopathies.Semantic proximity Read ↗

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