A5075105904- Animal Genetics and Reproduction
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- CRISPR and Genetic Engineering
- Down syndrome and intellectual disability research
- Congenital heart defects research
- Pluripotent Stem Cells Research
- Genomics and Chromatin Dynamics
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
University of Connecticut
2024-2025
UConn Health
2024-2025
Institute for Systems Biology
2023
Excess gene dosage from chromosome 21 (chr21) causes Down syndrome (DS), spanning developmental and acute phenotypes in terminal cell types. Which remain amenable to intervention after development is unknown. To address this question a model of DS neurogenesis, we derived trisomy (T21) human induced pluripotent stem cells (iPSCs) alongside, otherwise, isogenic euploid controls mosaic fibroblasts equipped one chr21 copy with an inducible XIST transgene. Monoallelic silencing by near-complete...
SUMMARY Modeling the developmental etiology of viable human aneuploidy can be challenging in rodents due to syntenic boundaries, or primate-specific biology. In humans, monosomy-X (45,X) causes Turner syndrome (TS), altering craniofacial, skeletal, endocrine, and cardiovascular development, which contrast remain unaffected 39,X-mice. To learn how may impact early embryonic we turned 45,X isogenic euploid induced pluripotent stem cells (hiPSCs) from male female mosaic donors. Because neural...