The overarching premise is that the integration of high-quality causal gene regulatory networks (GRNs), genomics, epigenomics, transcriptomics and other genome-wide data will greatly accelerate the discovery of the complex genetic causes of congenital and complex heart diseases. This review summarises ...
Toxicology screening did not show any drug in a toxic level that could explain the death in any of these cases. The remaining 81 cases were examined in earlier studies due to other cardiac causes of death. Twenty individuals were classified as having cardiomyopathies (arrhythmogenic right ...
heart measurement, of which 72 were not associated with left heart structures. Loci were found near genes previously linked with congenital heart disease, includingNKX2-5,TBX5/TBX3,WNT9BandGATA4. A genome-wide polygenic predictor of right ventricular ejection fraction was associated with incident ...
of red blood cell in coronary artery diseaseCytoskeleton and mechanotransduction - Heart336Novel myosin activator, JSH compounds, increased myocardial contractility without chronotropic effect in ratsExtracellular matrix and fibrosis - Vascular339Ablation of Toll-like receptor 9 causes cardiac rupture after ...
The findings, published in the journalCirculation: Genomic and Precision Medicine, evaluated thegenetic causesof infant and childhood-onset cardiomyopathy. A disease that involves a weakened heart muscle, cardiomyopathy makes it hard for the heart to pump blood effectively around the body. Children with...
Editorial overview: Molecular and genetic bases of disease: Enter the post-GWAS era Down syndrome (DS), commonly caused by an extra copy of chromosome 21 (chr21), occurs in approximately one out of 700 live births. Precisely how an extra chr21 causes over 80 clinically defined phenotypes is...
Congenital heart disease(CHD)is one of the most common causes of major birth defects,with a prevalence of 1%.Although an increasing number of studies have ... WZ Zhou,W Li,H Shen,... - 基因组蛋白质组与生物信息学报:英文版 被引量: 0发表: 2023年 Genetic variation in Down syndrome associ...
Registry data on all participants were collected from different national registers, including hospital and outpatient visits in HILMO, Care Register for Health Care (diagnoses, ICD-8–10; operations, NOMESCO Classification of Surgical Procedures), Causes of Death (immediate, contributing and underlying ...
The T allele of our eQTL RGS6 SNP (rs4899412) causes increased expression of RGS6. By increasing RGS6 expression, the T allele acts as a gain-of-function mutation that gives rise to a decrease in GIRK-channel signalling and the observed decrease in HRV. Of note, Rgs6 À / À ...
Congenital heart disease is one of the leading causes of pediatric morbidity and mortality, which is why it is important to decipher the molecular mechanisms that control heart development. Cardiovascular development has become a crucial element of understanding congenital heart diseases, and the more ...