Senior-Loken Syndrome: From Human Genetics to an Animal Model
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Title: Senior-Loken Syndrome: From Human Genetics to an Animal Model
Author: Nikko Ronquilo
Date: 02/13/2013
Keywords/Main Subjects: Senior-Loken Syndrome; Medullary cystic kidney disease; Retinitis pigmentosa; Photoreceptor degeneration; Nyctalopia; NPHP5
Secondary CORE Category: Retina and Vitreous / Hereditary and Choroidal Dystrophies
Diagnosis: Senior-Loken Syndrome
Brief Description: This is a research presentation of the development of a mouse model of Senior-Loken syndrome. A review of the pathogenesis, genetics, and clinical features of Senior-Loken syndrome in humans is presented. Discussion of the primary cilium and its potential role in Senior-Loken syndrome is undertaken. The production and characterization of NPHP5 knockout mice is described.
Format: video
Series: Moran Eye Center Grand Rounds
References:
Identifier: Moran_CORE_15221
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