Article

Epigenome and transcriptome changes in <i>KMT2D</i> -related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons

2025-02-06

Abstract excerpt

<h4>ABSTRACT</h4> Kabuki syndrome type 1 (KS1) is a neurodevelopmental disorder caused by loss-of-function variants in KMT2D which encodes a H3K4 methyltransferase. The mechanisms underlying neurodevelopmental problems in KS1 are still largely unknown. Here, we track the epigenome and transcriptome across three stages of neuronal differentiation using patient-derived induced pluripotent stem cells (iPSCs) to gai...

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Literature Corpus work: dbb1a8bc-3543-566a-8741-c3e20c627e57
DOI: 10.1101/2025.02.06.636815

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Epigenome and transcriptome changes in <i>KMT2D</i> -related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neuronsDOI 10.1101/2025.02.06.636815Read

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