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Article

Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.

Genetics - 4 Oct 2023

Chen Jingrong, Floyd Erin N, Dawson Dean S, Rankin Susannah

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a developmental disorder characterized by limb truncations, craniofacial abnormalities, and cognitive delays. CdLS is caused mainly by mutations in genes encoding subunits or regulators of the cohesin complex. Cohesin plays 2 distinct roles in chromosome dynamics as follows: it promotes looping, organization, and compaction of individual chromosomes, and it holds newly...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37650609
DOI: 10.1093/genetics/iyad159
PMCID: PMC10550314

Genes

SMC1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.PMID 37650609Read ↗

Cornelia de Lange Syndrome-associated mutations in Smc1 cause both sister chromatid cohesion and cohesion-independent defectsSemantic proximity Read ↗

Cornelia de Lange syndrome, cohesin, and beyond.Semantic proximity Read ↗

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.Semantic proximity Read ↗

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.Semantic proximity Read ↗

Cornelia de Lange syndrome.Semantic proximity Read ↗

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.Semantic proximity Read ↗

RAD21 mutations cause a human cohesinopathy.Semantic proximity Read ↗

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach.Semantic proximity Read ↗

[Structural maintenance of chromosomes and associated genetic disorders].Semantic proximity Read ↗

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Semantic proximity Read ↗

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

Cohesin and human disease.Semantic proximity Read ↗

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