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TranscriptomicsGenome wide DNA Methylation Study in Cornelia de Lange Syndrome
Differential DNA methylation was identified in CdLS, and correlates to cohesin binding as well. However, DNA methylation may only be one of several events that regulate gene expression in humans. 63 Lymphoblastoid cell lines (LCLs) from 39 CdLS probands, 2 RBS probands and 22 gender and racial match...
ORGANISM(S): Homo sapiens 
2010-07-07 | E-GEOD-18458 | biostudies-arrayexpress
TranscriptomicsTranscriptome characterization of CHOPS syndrome, a novel genetic disorder caused by gain-of-function mutations of AFF4
AFF4 is a component of super elongation complex (SEC), which plays an important role in mobilizing paused RNA polymerase II at gene promoter regions. Using exome sequenging, we have identified a novel genetic disorder caused by missense mutations in AFF4. We propose CHOPS syndrome as a name for th...
ORGANISM(S): Homo sapiens 
2015-01-27 | E-GEOD-64031 | biostudies-arrayexpress
TranscriptomicsTranscriptome comparison between CHOPS syndrome and Cornelia de Lange syndrome
CHOPS syndrome is caused by germline gain-of-function mutations of AFF4. Cornelia de Lange syndrome is caused by germline mutations of cohesin loading factors or cohesin complex genes such as NIPBL, SMC1A, SMC3 and HDAC8. There are many overlapping clinical features exist between CHOPS syndrome an...
ORGANISM(S): Homo sapiens 
2015-01-27 | E-GEOD-64034 | biostudies-arrayexpress
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