Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.

Genetics - 1 Sept 2017

Boudaoud Imène, Fournier Éric, Baguette Audrey, Vallée Maxime, Lamaze Fabien C, Droit Arnaud, Bilodeau Steve

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a complex multisystem developmental disorder caused by mutations in cohesin subunits and regulators. While its precise molecular mechanisms are not well defined, they point toward a global deregulation of the transcriptional gene expression program. Cohesin is associated with the boundaries of chromosome domains and with enhancer and promoter regions connecting the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Cycle Proteins
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to De Lange Syndrome

Share to Gene Regulatory Networks

Share to Genome, Human

Share to Proteins

Share to Structural Maintenance of Chromosome Protein 1

Share to Transcriptome

Source

Open in PubMed Open full text

Identifiers

PMID: 28679547
DOI: 10.1534/genetics.117.202291
PMCID: PMC5586368

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Connected Gene Communities Underlie Transcriptional Changes in Cornelia de Lange Syndrome.PMID 28679547Read ↗

Mutant cohesin affects RNA polymerase II regulation in Cornelia de Lange syndrome.Semantic proximity Read ↗

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.Semantic proximity Read ↗

Cornelia de Lange Syndrome as Paradigm of ChromatinopathiesSemantic proximity Read ↗

A cohesin-independent role for NIPBL at promoters provides insights in CdLS.Semantic proximity Read ↗

The effect of Nipped-B-Like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange SyndromeSemantic proximity Read ↗

A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromesSemantic proximity Read ↗

Partial rescue of neuronal genes deregulated in Cornelia de Lange Syndrome by cohesinSemantic proximity Read ↗

Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathwaysSemantic proximity Read ↗

Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.Semantic proximity Read ↗

Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.Semantic proximity Read ↗

Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin.Semantic proximity Read ↗

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.