| 概要 |
Immune dysregulation, neurodevelopmental defects, and colitis (IDNDC) is a novel syndrome characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental issues. Biallelic mutations in ITGAV have been identified in patients. ITGAV encodes Integrin alpha V subunit. It is suggested that the reduction of functional integrin alpha V resulted in the dysregulation of several pathways including TGF-beta-dependent signaling and alpha(v)beta(3)-regulated immune signaling.
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| 著者 |
Ghasempour S, Warner N, Guan R, Rodari MM, Ivanochko D, Whittaker Hawkins R, Marwaha A, Nowak JK, Liang Y, Mulder DJ, Stallard L, Li M, Yu DD, Pluthero FG, Batura V, Zhao M, Siddiqui I, Upton JEM, Hulst JM, Kahr WHA, Mendoza-Londono R, Charbit-Henrion F, Hoefsloot LH, Khiat A, Moreira D, Trindade E, Espinheira MDC, Pinto Pais I, Weerts MJA, Douben H, Kotlarz D, Snapper SB, Klein C, Dowling JJ, Julien JP, Joosten M, Cerf-Bensussan N, Freeman SA, Parlato M, van Ham TJ, Muise AM |
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