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• W2017685224 abstract "People with Usher's syndrome type IIa have mutations in a novel gene encoding a protein with domains commonly found in many types of extracellular matrix and cell surface receptor proteins. Here we report that this protein, which we refer to as usherin, is a new basement membrane protein. In the mouse, usherin has a broad, but not ubiquitous, tissue distribution. Usherin is found in all of the capillary and structural basement membranes of the human and mouse retina and in the murine inner ear at both post-natal day 0 and in the adult. High levels of usherin are also observed in tissues not affected in Usher's syndrome type IIa, including spleen, testis, oviduct, epididymis, submaxillary gland, and large and small intestines. Many organs are completely devoid of usherin, including the brain, skin, kidney, lung, liver, and skeletal muscle. Expression was observed in the smooth muscle of the small intestine, colon, and oviduct, however, usherin is not present in cardiac smooth muscle. Usherin is critical for normal development and tissue homeostasis in the inner ear and retina, illustrating yet another example of the importance of basement membranes in the development and function of tissues." @default.
• W2017685224 created "2016-06-24" @default.
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• W2017685224 date "2002-01-01" @default.
• W2017685224 modified "2023-09-23" @default.
• W2017685224 title "Localization and expression of usherin: a novel basement membrane protein defective in people with Usher’s syndrome type IIa" @default.
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• W2017685224 doi "https://doi.org/10.1016/s0378-5955(01)00344-6" @default.
• W2017685224 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11788194" @default.
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