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#LOF突變# 髓母細(xì)胞瘤（Medulloblastoma, MB）是一種常見的兒童惡性腦腫瘤，其中Sonic Hedgehog（SHH）亞型約占30%。SHH亞型的髓母細(xì)胞瘤通常與SHH信號通路的過度激活有關(guān)。近年來，研究發(fā)現(xiàn)，Elongator復(fù)合體亞單位1（ELP1）的生殖系功能缺失（LOF）突變是兒童髓母細(xì)胞瘤中最常見的遺傳易感性事件之一，約占SHH亞型的30%。然而，ELP1缺失如何引發(fā)SHH亞型髓母細(xì)胞瘤的具體機制尚不清楚。本研究旨在通過遺傳學(xué)建模和分子機制研究，揭示ELP1缺失在SHH亞型髓母細(xì)胞瘤中的作用，并探索潛在的治療靶點。
