Article
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
American journal of human genetics - 10 Dec 2010
Mochida Ganeshwaran H, Ganesh Vijay S, Felie Jillian M, Gleason Danielle, Hill R Sean, Clapham Katie Rose, Rakiec Daniel, Tan Wen-Hann, Akawi Nadia, Al-Saffar Muna, Partlow Jennifer N, Tinschert Sigrid, Barkovich A James, Ali Bassam, Al-Gazali Lihadh, Walsh Christopher A
Abstract excerpt
The tight junction, or zonula occludens, is a specialized cell-cell junction that regulates epithelial and endothelial permeability, and it is an essential component of the blood-brain barrier in the cerebrovascular endothelium. In addition to functioning as a diffusion barrier, tight junctions are also involved in signal transduction. In this study, we identified a homozygous mutation in the tight-junction...
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