A5053949191- Epigenetics and DNA Methylation
- Developmental Biology and Gene Regulation
- Genomics and Chromatin Dynamics
- Cancer-related molecular mechanisms research
- Genomics and Phylogenetic Studies
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- dental development and anomalies
- Molecular Biology Techniques and Applications
- RNA modifications and cancer
- Cleft Lip and Palate Research
- Craniofacial Disorders and Treatments
UConn Health
2020-2024
Craniofacial disorders arise in early pregnancy and are one of the most common congenital defects. To fully understand how craniofacial arise, it is essential to characterize gene expression during patterning region. address this, we performed bulk single-cell RNA-seq on human tissue from 4-8 weeks post conception. Comparisons dozens other tissues revealed 239 genes strongly expressed development. Craniofacial-biased developmental enhancers were enriched +/- 400 kb surrounding these...
Abstract Craniofacial abnormalities account for approximately one third of birth defects. The regulatory programs that build the face require precisely controlled spatiotemporal gene expression, achieved through tissue-specific enhancers. Clusters coactivated enhancers and their target genes, known as superenhancers, are important in determining cell identity but have been largely unexplored development. In this study we identified superenhancer regions unique to human embryonic craniofacial...
There is growing evidence that common variants and rare sequence alterations in regulatory sequences can result birth defects or predisposition to disease. Congenital heart are the most defect have a clear genetic component, yet only third of cases be attributed structural variation genome mutation gene. The remaining unknown could caused by sequences.
Summary Craniofacial disorders are among the most common of all congenital defects. A majority craniofacial development occurs early in pregnancy and to fully understand how defects arise, it is essential observe gene expression during this critical time period. To address we performed bulk single-cell RNA-seq on human tissue from embryonic 4 8 weeks post conception. This data comprises comprehensive profiling transcriptome developing face date. We identified 239 genes that were specifically...
Abstract Defects in embryonic patterning resulting craniofacial abnormalities account for approximately 1/3 of birth defects. The regulatory programs that build and shape the face require precisely controlled spatiotemporal gene expression, achieved through tissue-specific enhancers. Large regions with coactivation enhancer elements co-regulation multiple genes, referred to as superenhancers, are important determining cell identity perturbation could result developmental Building upon a...