Ontology highlight
ABSTRACT:
SUBMITTER: Rangrez AY
PROVIDER: S-EPMC6950782 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Rangrez Ashraf Yusuf AY Kilian Lucia L Stiebeling Katharina K Dittmann Sven S Yadav Pankaj P Schulze-Bahr Eric E Frey Norbert N Frank Derk D
Data in brief 20200102
We recently reported a novel, heterozygous, and non-synonymous ACTC1 mutation (p.Gly247Asp or G247D) in a large, multi-generational family, causing atrial-septal defect followed by late-onset dilated cardiomyopathy (DCM). We also found that the G247D ACTC1 mutation negatively regulated serum response (SRF)-signaling thereby contributing to the late-onset DCM observed in human patients carrying this mutation ("A cardiac α-actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling in vitro in neon ...[more]