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Article

BEST1 expression in the retinal pigment epithelium is modulated by OTX family members

10 Oct 2008

Abstract excerpt

A number of genes preferentially expressed in the retinal pigment epithelium (RPE) are associated with retinal degenerative disease. One of these, BEST1, encodes bestrophin-1, a protein that when mutated causes Best macular dystrophy. As a model for RPE gene regulation, we have been studying the mechanisms that control BEST1 expression, and recently demonstrated that members of the MITF-TFE family modulate BEST1...

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PMID: 18849347
DOI: 10.1093/hmg/ddn323

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