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Series GSE93207 Query DataSets for GSE93207
Status Public on Dec 28, 2017
Title Excessive UBE3A dosage impairs fine-tuning of retinoid acid signaling in autism spectrum disorders
Organism Homo sapiens
Experiment type Genome variation profiling by SNP array
SNP genotyping by SNP array
Summary The autism spectrum disorders (ASD) are a collection of disorders with heterogeneous etiology, exhibiting common traits including impaired social interactions and communications, repetitive behaviors. 15q11-q13 copy number variations (CNV) were found in 1-3% of ASD cases; of which the detailed mechanism of the major contributor UBE3A gene acted still remained elusive. Here we identified a key enzyme in RA synthesis, negatively regulated in ubiquitination-dependent mode promoted by UBE3A. Our data provide evidences linking UBE3A hyperactivity with ASD phenotypes, with implications for understanding ASD etiology and providing potential interventions in ASD clinical therapy.
Overall design To identify whether CNV variations existed within different patients diagnosed with ASD, genomic DNA were extracted from three patient blood samples and investigated using Human660W-Quad Beadchip assay.
Contributor(s) Guo H, Xia K, Xu X, Hu R
Citation(s) 29076503
Submission date Jan 05, 2017
Last update date Dec 29, 2017
Contact name Ronggui Hu
Organization name Institute of Biochemsitry and Cell Biology
Street address Room 405, New Biochemistry Building, 320 Yue-yang Road, Shanghai, China
City Shanghai
State/province Shanghai
ZIP/Postal code 200031
Country China
Platforms (1)
GPL8888 Illumina Human660W-Quad v1.0 BeadChip
Samples (3)
GSM2448608 A01 lymphocyte
GSM2448609 A02 lymphocyte
GSM2448610 A03 lymphocyte
BioProject PRJNA360292

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE93207_RAW.tar 22.5 Mb (http)(custom) TAR (of IDAT)
GSE93207_X_Y_raw.txt.gz 27.0 Mb (ftp)(http) TXT
GSE93207_processed_data.txt.gz 38.1 Mb (ftp)(http) TXT
Processed data are available on Series record

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