| 概要 |
Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (OCLSBG) is characterized by fetal lethality, severe hypomineralization of the entire skeleton and intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys. It has been demonstrated that TAPT1 mutations underlie this disease. TAPT1 is a centrosome and/or ciliary basal body protein that could have a dual role in cartilage and bone development. First, it affects intracellular protein trafficking and organization of cellular organelles. Second, TAPT1 could play a role in ciliary assembly and signaling, and influence osteoblast and/or chondrocyte differentiation.
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| 著者 |
Symoens S, Barnes AM, Gistelinck C, Malfait F, Guillemyn B, Steyaert W, Syx D, D'hondt S, Biervliet M, De Backer J, Witten EP, Leikin S, Makareeva E, Gillessen-Kaesbach G, Huysseune A, Vleminckx K, Willaert A, De Paepe A, Marini JC, Coucke PJ |
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