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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
TranscriptomicsNuclear SLIC-CAGE of human cortical neurons from Cornelia de Lange Syndrome patients and control individuals
We used SLIC-CAGE to map transcriptional start sites in cortical neurons from Cornelia de Lange Syndrome (CdLS) patients and control individuals. SLIC-CAGE was performed using nuclear RNA isolated from pre-frontal cortical grey matter. Usage of nuclear RNA allows enrichment of unstable RNAs, such as...
ORGANISM(S): Homo sapiens 
2021-02-27 | E-MTAB-9045 | biostudies-arrayexpress
UnknownMosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome.
Not available
S-EPMC6053508 | biostudies-literature
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
UnknownCerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants.
Not available
S-EPMC9911990 | biostudies-literature
UnknownA Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome.
Not available
S-EPMC9408140 | biostudies-literature
UnknownCornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis.
Not available
S-EPMC10742884 | biostudies-literature
UnknownEvaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Not available
S-EPMC7038094 | biostudies-literature
TranscriptomicsTranscriptional dysregulation associated with chromatin accessibility of iPSC and hepatocytes derived from a Cornelia de Lange syndrome patient (RNA-Seq)
Cornelia de Lange syndrome (CdLS) is a rare genetic disease associated with cohesinopathy. A novel iPSC line was generated from the CdLS patient carrying a heterozygous missense point-mutation of the NIPBL gene. iPSC lines prepared from the healthy parents and the mutation-corrected isogenic cel...
ORGANISM(S): Homo sapiens 
2023-06-15 | E-MTAB-12631 | biostudies-arrayexpress
UnknownClinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
Not available
S-EPMC5376485 | biostudies-literature
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