| 概要 |
Brain malformation renal syndrome (BMRS) is a novel syndrome characterized by Dandy-Walker malformation, kidney disease, and bone marrow failure. It has been reported that mutations in EXOC3L2 cause this syndrome. EXOC3L2 encodes a component of the exocyst complex that is involved in tethering and trafficking of post-Golgi vesicles to the plasma membrane. It plays an important role in ciliogenesis, cell polarisation, migration, cytokinesis, tumor invasion and cell growth.
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| 著者 |
Shalata A, Lauhasurayotin S, Leibovitz Z, Li H, Hebert D, Dhanraj S, Hadid Y, Mahroum M, Bajar J, Egenburg S, Arad A, Shohat M, Haddad S, Bakry H, Moshiri H, Scherer SW, Tzur S, Dror Y |
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| 著者 |
Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS |
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