A5057524880- Congenital heart defects research
- Coronary Artery Anomalies
- RNA modifications and cancer
- Genomics and Rare Diseases
- Ovarian cancer diagnosis and treatment
- Zebrafish Biomedical Research Applications
- Prenatal Screening and Diagnostics
- Congenital Heart Disease Studies
- Reproductive Biology and Fertility
- Developmental Biology and Gene Regulation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- MicroRNA in disease regulation
Nationwide Children's Hospital
2022
University of Cincinnati Medical Center
2017-2021
Cincinnati Children's Hospital Medical Center
2017-2021
Congenital heart disease (CHD) is a common group of birth defects with strong genetic contribution to their etiology, but historically the diagnostic yield from exome studies isolated CHD has been low. Pleiotropy, variable expressivity, and difficulty accurately phenotyping newborns contribute this problem. We hypothesized that performing sequencing on selected individuals in families multiple members affected by left-sided CHD, then filtering variants population frequency, silico predictive...
Multiple syndromes share congenital heart and craniofacial muscle defects, indicating there is an intimate relationship between the adjacent cardiac pharyngeal (PM) progenitor fields. However, mechanisms that direct antagonistic lineage decisions of PM progenitors within anterior mesoderm vertebrates are not understood. Here, we identify retinoic acid (RA) signaling directly promotes expression transcription factor Nr2f1a lateral plate mesoderm. Using zebrafish nr2f1a nr2f2 mutants, find...