Article

Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome

2018-12-02

Abstract excerpt

Chromatin modifiers act to coordinate gene expression changes critical to neuronal differentiation from neural stem/progenitor cells (NSPCs). Lysine-specific methyltransferase 2D (KMT2D) encodes a histone methyltransferase that promotes transcriptional activation, and is frequently mutated in cancers and in the majority (>70%) of patients diagnosed with the congenital, multisystem intellectual disability (ID) dis...

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Literature Corpus work: be955dfe-13f9-5fe2-81a1-be25088e23d5
DOI: 10.1101/484410

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