Article
Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes.
Human molecular genetics - 15 Mar 2006
Baron Colin A, Tepper Clifford G, Liu Stephenie Y, Davis Ryan R, Wang Nicholas J, Schanen N Carolyn, Gregg Jeffrey P
Abstract excerpt
Autism is a complex neurodevelopmental disorder having both genetic and epigenetic etiological elements. Isodicentric chromosome 15 (Idic15), characterized by duplications of the multi-disorder critical region of 15q11-q14, is a relatively common cytogenetic event. When the duplication involves maternally derived content, this abnormality is strongly correlated with autism disorder. However, the mechanistic links...
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