Article
UTX-guided neural crest function underlies craniofacial features of Kabuki syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 24 Oct 2017
Shpargel Karl B, Starmer Joshua, Wang Chaochen, Ge Kai, Magnuson Terry
Abstract excerpt
Kabuki syndrome, a congenital craniofacial disorder, manifests from mutations in an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A) or a H3 lysine 4 methylase (KMT2D). However, the cellular and molecular etiology of histone-modifying enzymes in craniofacial disorders is unknown. We now establish Kabuki syndrome as a neurocristopathy, whereby the majority of clinical features are modeled in mice carrying...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.