Mouse Model of Human Congenital Heart Disease

201530 citationsJournal Articlebronze Open Access

Authors

Rajib Chowdhury · Medical College of Wisconsin

Hassan Ashraf · Harvard University

Michelle Melanson · Oregon Health & Science University

Yohei Tanada · Harvard University

Minh Quang Nguyen · Oregon Health & Science University

Michael Silberbach · Harvard University

Hiroko Wakimoto

Abstract

The highly penetrant and progressive AV block phenotype seen in human heterozygous missense mutations in NKX2-5 homeodomain was replicated in mice by knocking in a comparable missense mutation.

Topics & Keywords

Congenital heart defects research Cardiac electrophysiology and arrhythmias Cardiomyopathy and Myosin Studies

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Circulation Arrhythmia and Electrophysiology

Volume 8, Issue 5, pp. 1255-1264

DOI: 10.1161/circep.115.002720

Field-Weighted Citation Impact: 1.81