Occludin
The OCLN gene is involved in the cytokin-mediated regulation of permeability of tight junctions. Mutations cause autosomal recessive Pseudo-TORCH syndrome 1.
Genetests:
Related Diseases:
References:
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Barrios-Rodiles M et al. (2005) High-throughput mapping of a dynamic signaling network in mammalian cells.
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Ando-Akatsuka Y et al. (1996) Interspecies diversity of the occludin sequence: cDNA cloning of human, mouse, dog, and rat-kangaroo homologues.
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Saitou M et al. (2000) Complex phenotype of mice lacking occludin, a component of tight junction strands.
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Mankertz J et al. (2002) Gene expression of the tight junction protein occludin includes differential splicing and alternative promoter usage.
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Sánchez-Pulido L et al. (2002) MARVEL: a conserved domain involved in membrane apposition events.
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Briggs TA et al. (2008) Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.
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Argaw AT et al. (2009) VEGF-mediated disruption of endothelial CLN-5 promotes blood-brain barrier breakdown.
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Ploss A et al. (2009) Human occludin is a hepatitis C virus entry factor required for infection of mouse cells.
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Du D et al. (2010) The tight junction protein, occludin, regulates the directional migration of epithelial cells.
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O'Driscoll MC et al. (2010) Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
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Update: Aug. 14, 2020