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

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

Human mutation - 1 Jan 2010

Mannini Linda, Liu Jinglan, Krantz Ian D, Musio Antonio

Abstract excerpt

SMC1A encodes a structural component of the cohesin complex, which is necessary for sister chromatid cohesion. In addition to its canonical role, cohesin has been shown to be involved in gene expression regulation and maintenance of genome stability. Recently, it has been demonstrated that mutations in the SMC1A gene are responsible for Cornelia de Lange syndrome (CdLS). CdLS is a genetically heterogeneous...

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 Cohesins

Share to Colorectal Neoplasms

Share to De Lange Syndrome

Share to Mutation

Share to Structural Maintenance of Chromosome Protein 1

Source

Open in PubMed Open full text

Identifiers

PMID: 19842212
DOI: 10.1002/humu.21129
PMCID: PMC2797832

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.PMID 19842212Read ↗

The multiple facets of the SMC1A gene.Semantic proximity Read ↗

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

Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Semantic proximity Read ↗

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

Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.Semantic proximity Read ↗

Could a patient with SMC1A duplication be classified as a human cohesinopathy?Semantic proximity Read ↗

Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.Semantic proximity Read ↗

Cornelia de Lange syndrome.Semantic proximity Read ↗

Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.Semantic proximity Read ↗

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

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