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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
UnknownThe effect of Vdr gene ablation on global gene expression in the mouse placenta.
Not available
S-EPMC4664714 | biostudies-literature
UnknownDistinct cinnamoyl CoA reductases involved in parallel routes to lignin in Medicago truncatula.
Not available
S-EPMC2955080 | biostudies-literature
TranscriptomicsTranscription profiling of human neuroblastoma genes by combining genomic and expression microarrays: expression data set
Gene expression analysis was performed on 30 Neuroblastomas to identify genes whose transcription is significantly altered by recurrent chromosomal alterations. Genomic copy number losses and gains had been delineated in the tumours using FISH and SNP arrays. We have identified genes significantly a...
ORGANISM(S): Homo sapiens 
2008-10-26 | E-GEOD-13136 | biostudies-arrayexpress
TranscriptomicsGenotyping of human neuroblastoma genes by combining genomic and expression microarrays SNP data set
Gene expression analysis was performed on 30 Neuroblastomas to identify genes whose transcription is significantly altered by recurrent chromosomal alterations. Genomic copy number losses and gains had been delineated in the tumours using FISH and SNP arrays. We have identified genes significantly a...
ORGANISM(S): Homo sapiens 
2008-10-26 | E-GEOD-13137 | biostudies-arrayexpress
UnknownLoss of function of cinnamyl alcohol dehydrogenase 1 leads to unconventional lignin and a temperature-sensitive growth defect in Medicago truncatula.
Not available
S-EPMC3746925 | biostudies-literature
UnknownMutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Not available
S-EPMC1821101 | biostudies-literature
UnknownCellular requirements for LARK in the Drosophila circadian system.
Not available
S-EPMC4135585 | biostudies-literature
UnknownRisk of invasive waterfowl interaction with poultry production: Understanding potential for avian pathogen transmission via species distribution models.
Not available
S-EPMC11257698 | biostudies-literature
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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