Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin–proteasome pathway processes

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 mate...

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Veröffentlicht in:	Human molecular genetics 2006-03, Vol.15 (6), p.853-869
Hauptverfasser:	Baron, Colin A., Tepper, Clifford G., Liu, Stephenie Y., Davis, Ryan R., Wang, Nicholas J., Schanen, N. Carolyn, Gregg, Jeffrey P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Cell Line, Transformed Chromosome Aberrations Chromosomes, Human, Pair 15 - genetics Fundamental and applied biological sciences. Psychology Gene Duplication Gene Expression Profiling Genetics of eukaryotes. Biological and molecular evolution Genomics - methods Humans Molecular and cellular biology Oligonucleotide Array Sequence Analysis Polymorphism, Single Nucleotide Proteasome Endopeptidase Complex - physiology Reverse Transcriptase Polymerase Chain Reaction Signal Transduction - genetics Ubiquitin - metabolism Ubiquitin-Protein Ligases - biosynthesis Ubiquitin-Protein Ligases - physiology
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