REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects

por Shin-Haw Lee, Sina Hadipour-Lakmehsari, Harsha R. Murthy, Natalie Gibb, Tetsuaki Miyake, Allen C. T. Teng, Jake Cosme, Jessica C. Yu, Mark Moon, SangHyun Lim, Victoria Wong, Peter Liu, Filio Billia, Rodrigo Fernandez-Gonzalez, Igor Stagljar, Parveen Sharma, Thomas Kislinger, Ian C. Scott, Anthony O. Gramolini
Publicado 2020

Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes

por Oliver A. Kent, Manipa Saha, Etienne Coyaud, Helen E. Burston, Napoleon Law, Keith Dadson, Sujun Chen, Estelle M. Laurent, Jonathan St-Germain, Ren X. Sun, Yoshinori Matsumoto, Justin Cowen, Aaryn Montgomery-Song, Kevin R. Brown, Charles Ishak, Jose La Rose, Daniel D. De Carvalho, Housheng Hansen He, Brian Raught, Filio Billia, Peter Kannu, Robert Rottapel
Publicado 2020