A5049628241- Genetic Syndromes and Imprinting
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Cancer therapeutics and mechanisms
- Congenital heart defects research
- Single-cell and spatial transcriptomics
- Diabetes and associated disorders
- Tumors and Oncological Cases
- NF-κB Signaling Pathways
- Immune Response and Inflammation
- Advanced biosensing and bioanalysis techniques
- Protein Degradation and Inhibitors
- Cancer-related molecular mechanisms research
- RNA modifications and cancer
- Chromatin Remodeling and Cancer
- Renal and related cancers
Novartis (United States)
2021
UConn Health
2013-2019
University of Washington
2009
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function from maternal allele UBE3A , gene encoding an E3 ubiquitin ligase. only expressed maternally inherited in mature human neurons due to tissue-specific genomic imprinting. Imprinted expression restricted antisense transcript ( UBE3A-ATS ) paternally allele, which silences paternal cis . However, mechanism restricting and imprinting not understood. We used CRISPR/Cas9-mediated genome editing...
Prader-Willi syndrome (PWS) and Angelman (AS) are two neurodevelopmental disorders most often caused by deletions of the same region paternally inherited maternally human chromosome 15q, respectively. AS is a single gene disorder, loss function ubiquitin ligase E3A (UBE3A) gene, while PWS still considered contiguous disorder. Rare individuals with who carry atypical microdeletions on 15q have narrowed critical for this disorder to 108 kb that includes SNORD116 snoRNA cluster Imprinted in...
Abstract Angelman Syndrome (AS) is a rare neurodevelopmental disorder caused by loss of function the maternally inherited copy UBE3A , an imprinted gene expressed biallelically in most tissues, but exclusively from maternal allele neurons. Active transcription neuron-specific long non-coding RNA (lncRNA), UBE3A-ATS, has been shown to silence paternal . We hypothesized that alternative splicing factors RBFOX2 and RBFOX1 might mediate changes result UBE3A-ATS found both bind transcript...
Copy number variants (CNVs) that delete or duplicate 30 genes within the 16p11.2 genomic region give rise to a range of neurodevelopmental phenotypes with high penetrance in humans. Despite identification this small region, mechanisms by which CNVs lead disease are unclear. Relevant models, such as human cortical organoids (hCOs), needed understand human-specific disease. We generated hCOs from 17 patients and controls, profiling 167,958 cells single-cell RNA-sequencing analysis, revealed...
SUMMARY Copy number variants (CNVs) that delete or duplicate 30 genes within the 16p11.2 genomic region give rise to a range of neurodevelopmental phenotypes with high penetrance in humans. Despite identification this small region, mechanisms by which CNVs lead disease are unclear. Relevant models, like human cortical organoids (hCOs), needed understand human-specific disease. We generated hCOs from 18 patients and controls, profiling 167,958 cells single cell (sc)RNA-seq. Analysis revealed...
ABSTRACT Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function from maternal allele UBE3A , gene encoding an E3 ubiquitin ligase. only expressed maternally-inherited in mature human neurons due to tissue-specific genomic imprinting. Imprinted expression restricted antisense transcript ( UBE3A-ATS ) paternally-inherited allele, which silences paternal cis . However, mechanism restricting and imprinting not understood. We used CRISPR/Cas9-mediated genome...