Article
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Human molecular genetics - 15 Oct 2015
Greenlees Rebecca, Mihelec Marija, Yousoof Saira, Speidel Daniel, Wu Selwin K, Rinkwitz Silke, Prokudin Ivan, Perveen Rahat, Cheng Anson, Ma Alan, Nash Benjamin, Gillespie Rachel, Loebel David A F, Clayton-Smith Jill, Lloyd I Christopher, Grigg John R, Tam Patrick P L, Yap Alpha S, Becker Thomas S, Black Graeme C M, Semina Elena, Jamieson Robyn V
Abstract excerpt
Correct morphogenesis and differentiation are critical in development and maintenance of the lens, which is a classic model system for epithelial development and disease. Through germline genomic analyses in patients with lens and eye abnormalities, we discovered functional mutations in the Signal Induced Proliferation Associated 1 Like 3 (SIPA1L3) gene, which encodes a previously uncharacterized member of the...
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