Cell cycle defects underlie childhood-onset cardiomyopathy associated with Noonan syndrome
Anna B. Meier, Sarala Raj Murthi, Hilansi Rawat, Christopher N. Toepfer, Gianluca Santamaria, Manuel Schmid, Elisa Mastantuono, Thomas Schwarzmayr, Riccardo Berutti, Julie Cleuziou, Peter Ewert, Agnes Görlach, Karin Klingel, Karl‐Ludwig Laugwitz, Christine E. Seidman, Jonathan G. Seidman, Alessandra Moretti, Cordula M. Wolf
Abstract
induced pluripotent stem cells, we demonstrate distinct disease phenotypes between NS-CM and HCM and uncover cell cycle defects as a potential driver of NS-CM.
Topics & Concepts
Noonan syndromeHypertrophic cardiomyopathyCardiomyopathyInduced pluripotent stem cellMYH7Internal medicineMedicineShort statureHeart failureCardiologyBiologyGeneticsGeneMyosin light-chain kinaseMyosinCell biologyEmbryonic stem cellProtein Tyrosine PhosphatasesCardiomyopathy and Myosin StudiesGalectins and Cancer Biology