Associated Papers
ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.
Zarate YA et al.
Clinical Genetics, 2025
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Hgg Advances, 2023
37457373 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36945405 (PubMed )
Supplement: media-2.xlsx › Table_S1
Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families.
Yang QL et al.
Journal of Cardiology, 2019
A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.
Wang Y et al.
Scientific Reports, 2016
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias.
Yoshida Y et al.
Heartrhythm Case Reports, 2016
A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.
Augière C et al.
Plos One, 2015
Sequencing: the next generation--what is the role of whole-exome sequencing in the diagnosis of familial cardiovascular diseases?
Farhan SM et al.
The Canadian Journal of Cardiology, 2014
Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.
Greenway SC et al.
The Canadian Journal of Cardiology, 2014
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