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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
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
UnknownBinding and effect of K ATP channel openers in the absence of Mg2+.
Not available
S-EPMC1573839 | biostudies-literature
UnknownAlternans resonance and propagation block during supernormal conduction in cardiac tissue with decreased [K(+)](o).
Not available
S-EPMC2849079 | biostudies-literature
UnknownTargeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.
Not available
S-EPMC30171 | biostudies-literature
UnknownGenomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Not available
S-EPMC10524367 | biostudies-literature
UnknownInteraction of a novel dihydropyridine K+ channel opener, A-312110, with recombinant sulphonylurea receptors and KATP channels: comparison with the cyanoguanidine P1075.
Not available
S-EPMC1574886 | biostudies-literature
TranscriptomicsA direct role for cohesin in genome-wide gene regulation and Ecdysone-response in Drosophila salivary gland
Developmental abnormalities observed in Cornelia de Lange Syndrome (CdLS) have been genetically linked to mutations in the cohesin machinery. These findings raise the possibility that cohesin, in addition to its canonical function of mediating sister chromatid cohesion, might also be involved in reg...
ORGANISM(S): Drosophila melanogaster 
2011-03-22 | E-GEOD-21874 | biostudies-arrayexpress
TranscriptomicsDifferential gene expression profiling in the presence and absence of cohesin in Drosophila salivary glands (gene expression data)
Analysis of differential gene expression in third instar Drosophila salivary glands in the absence versus presence of cohesin. ABSTRACT: Developmental abnormalities observed in Cornelia de Lange Syndrome (CdLS) have been genetically linked to mutations in the cohesin machinery. These findings raise ...
ORGANISM(S): Drosophila melanogaster 
2010-12-22 | E-GEOD-21844 | biostudies-arrayexpress
TranscriptomicsTranscription analysis of E. coli processed at persistent and decreasing glucose limitation in a fed-batch cultivation
A time series of whole-genome transcription profiling of E. coli K-12 W3110 was performed to study the dynamic physiological response of E. coli K-12 W3110 to limited carbon conditions. cDNA from eight time intervals after glucose limitation, representing different stages of glucose depletion, along...
ORGANISM(S): Escherichia coli W3110 
2010-05-19 | E-GEOD-10307 | biostudies-arrayexpress
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