Article
RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
The Journal of clinical investigation - 1 Sept 2015
Bögershausen Nina, Tsai I-Chun, Pohl Esther, Kiper Pelin Özlem Simsek, Beleggia Filippo, Percin E Ferda, Keupp Katharina, Matchan Angela, Milz Esther, Alanay Yasemin, Kayserili Hülya, Liu Yicheng, Banka Siddharth, Kranz Andrea, Zenker Martin, Wieczorek Dagmar, Elcioglu Nursel, Prontera Paolo, Lyonnet Stanislas, Meitinger Thomas, Stewart A Francis, Donnai Dian, Strom Tim M, Boduroglu Koray, Yigit Gökhan, Li Yun, Katsanis Nicholas, Wollnik Bernd
Abstract excerpt
The genetic disorder Kabuki syndrome (KS) is characterized by developmental delay and congenital anomalies. Dominant mutations in the chromatin regulators lysine (K)-specific methyltransferase 2D (KMT2D) (also known as MLL2) and lysine (K)-specific demethylase 6A (KDM6A) underlie the majority of cases. Although the functions of these chromatin-modifying proteins have been studied extensively, the physiological...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.