A5074831754- Congenital heart defects research
- Congenital Heart Disease Studies
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Cardiac Valve Diseases and Treatments
- Cardiomyopathy and Myosin Studies
- Coronary Artery Anomalies
- Epigenetics and DNA Methylation
University of Pittsburgh
2018-2024
Abstract Life expectancy continues to increase in the high-income world due advances medical care; however, quality of life declines with increasing age normal aging processes. Current research suggests that various aspects are genetically modulated and thus may be slowed via genetic modification. Here, we show evidence for epigenetic modulation process brain from over 1800 individuals as part Framingham Heart Study. We investigated methylation genes protocadherin (PCDH) clusters, including...
Bicuspid aortic valve (BAV) with ∼1%–2% prevalence is the most common congenital heart defect (CHD). It frequently results in disease and aorta dilation a major cause of adult cardiac surgery. BAV genetically linked to rare left-heart obstructions (left ventricular outflow tract [LVOTOs]), including hypoplastic left syndrome (HLHS) coarctation (CoA). Mouse human studies indicate LVOTO heterogeneous complex genetic etiology. Homozygous mutation Pcdha protocadherin gene cluster mice can BAV,...
Coarctation of the aorta (CoA) and bicuspid aortic valve (BAV) often cooccur are genetically linked congenital heart defects (CHD). While CoA is thought to have a hemodynamic origin from ventricular dysfunction, we provide evidence pointing atrial hemodynamics based on investigating genetic etiology CoA. Previous studies shown rare MYH6 variant in an Icelandic cohort, two common deletions protocadherin α cluster (PCDHA delCNVs) significantly associated with BAV. Here, analysis non-Icelandic...
Due to the prevalence of congenital heart disease in human population, determining role variants (CHD) can give a better understanding cause disorder. A homozygous missense mutation LDL receptor-related protein 1 (Lrp1) mice was shown defects, including atrioventricular septal defect (AVSD) and double outlet right ventricle (DORV). Integrative analysis publicly available single-cell RNA sequencing (scRNA-seq) datasets spatial transcriptomics mouse hearts indicated that LRP1 is predominantly...
Introduction: Transposition of the great arteries (TGA) is one most common neonatal heart defects with a prevalence 0.2 per 1,000 live births. Although some studies have suggested laterality genes and environmental factors are involved, pathogenesis this outflow defect still unclear. The majority TGA sporadic, arguing for polygenic etiology. Methods: Whole exome sequencing (WES) analysis was conducted on 104 unrelated subjects isolated or complex TGA. Variants in 20 human mouse previously...