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Article

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

Nature communications - 18 May 2021

Weiss Felix D, Calderon Lesly, Wang Yi-Fang, Georgieva Radina, Guo Ya, Cvetesic Nevena, Kaur Maninder, Dharmalingam Gopuraja, Krantz Ian D, Lenhard Boris, Fisher Amanda G, Merkenschlager Matthias

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a human developmental disorder caused by mutations that compromise the function of cohesin, a major regulator of 3D genome organization. Cognitive impairment is a universal and as yet unexplained feature of CdLS. We characterize the transcriptional profile of cortical neurons from CdLS patients and find deregulation of hundreds of genes enriched for neuronal functions related...

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Source

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Identifiers

PMID: 34006846
DOI: 10.1038/s41467-021-23141-9
PMCID: PMC8131595

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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