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Understanding The Regulation Of Ube3a-Ats And The Process Of Ube3a Imprinting Using Ipsc Modeling And Crispr/Cas9 Editing, Jack Shuo-Hung Hsiao
Understanding The Regulation Of Ube3a-Ats And The Process Of Ube3a Imprinting Using Ipsc Modeling And Crispr/Cas9 Editing, Jack Shuo-Hung Hsiao
Doctoral Dissertations
Angelman Syndrome (AS) is a neurodevelopmental disorder caused by loss of the maternal copy of UBE3A. The paternal copy cannot compensate for the loss because it is subject to tissue-specific imprinting in the brain. This imprinting is controlled by the reciprocal UBE3A antisense transcript (UBE3A-ATS) expressed only in the brain. The goal of my thesis projects is to understand the underlying mechanism by which the UBE3A-ATS is regulated. We found that UBE3A-ATS is expressed and UBE3A is imprinted in non-neurons from an individual with 187 kb deletion at the paternal allele. This suggests that expression of UBE3A-ATS …
Modeling Neurodevelopmental Disorders Involving Genomic Imprinting At Human Chromosome 15q11-Q13 Using Ipsc And Crispr/Cas9 Technology, Pin-Fang Chen
Modeling Neurodevelopmental Disorders Involving Genomic Imprinting At Human Chromosome 15q11-Q13 Using Ipsc And Crispr/Cas9 Technology, Pin-Fang Chen
Doctoral Dissertations
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