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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
UnknownHigh rate of autonomic neuropathy in Cornelia de Lange Syndrome.
Not available
S-EPMC8556971 | biostudies-literature
UnknownTemporal bone CT findings in Cornelia de Lange syndrome.
Not available
S-EPMC8118888 | 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
UnknownNeurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.
Not available
S-EPMC10926648 | biostudies-literature
ProteomicsPhosphoproteomics of Jatropha curcas seedling under chilling stress
As a promising energy plant for biodiesel, Jatropha curcas is a tropical and subtropical shrub. Chilling is a major abiotic stress affecting the growth and development of J. curcas. In this study, we adopt the phosphoproteomic analysis, physiological measurement, ultrastructure observation to illust...
ORGANISM(S): Jatropha curcas 
2019-01-09 | PXD011438 | Pride
Jatropha curcas  phosphoproteomics  seedling  chilling stress  regulated mechanism 
UnknownA Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Not available
S-EPMC9408140 | biostudies-literature
UnknownIsolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Not available
S-EPMC3283175 | biostudies-literature
UnknownCase report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome.
Not available
S-EPMC9554350 | biostudies-literature
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