| Literature DB >> 12778053 |
Shengnan Jin1, M Carter Cornwall, Daniel D Oprian.
Abstract
Three different mutations of rhodopsin are known to cause autosomal dominant congenital night blindness in humans. Although the mutations have been studied for 10 years, the molecular mechanism of the disease is still a subject of controversy. We show here, using a transgenic Xenopus laevis model, that the photoreceptor cell desensitization that is a hallmark of the disease results from persistent signaling by constitutively active mutant opsins.Entities:
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Year: 2003 PMID: 12778053 DOI: 10.1038/nn1070
Source DB: PubMed Journal: Nat Neurosci ISSN: 1097-6256 Impact factor: 24.884