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TranscriptomicsTranscription profiling of Cornelia de Lange Syndrome proband derived cell lines reveals defective cohesin in cdls mediates gene expression with characteristics of transcription factor and insulator activity
The Cohesin apparatus has a canonical role in sister chromatid cohesion. Heterozygous mutations in Nipped B-like (NIPBL), SMC1A, and SMC3 have been found in 60% of probands with Cornelia de Lange Syndrome (CdLS), a dominant multi-system genetic disorder with variable expression. We have performed a ...
ORGANISM(S): Homo sapiens 
2009-06-08 | E-GEOD-12408 | biostudies-arrayexpress
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
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