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Article

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

Human mutation - 1 Nov 2009

Liu Jinglan, Feldman Rachel, Zhang Zhe, Deardorff Matthew A, Haverfield Eden V, Kaur Maninder, Li Jennifer R, Clark Dinah, Kline Antonie D, Waggoner Darrel J, Das Soma, Jackson Laird G, Krantz Ian D

Abstract excerpt

Cornelia de Lange Syndrome (CdLS) is a dominantly inherited heterogeneous genetic disorder with multisystem abnormalities. Sixty percent of probands with CdLS have heterozygous mutations in the Nipped-B-like (NIPBL) gene, 5% have mutations in the SMC1A gene, and one proband was found to have a mutation in the SMC3 gene. Cohesin is a multisubunit complex consisting of a SMC1A and SMC3 heterodimer and two non-SMC...

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Source

Open in PubMed Open full text

Identifiers

PMID: 19701948
DOI: 10.1002/humu.21095
PMCID: PMC2783874

Genes

NIPBL
SMC3

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.

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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.PMID 19701948Read ↗

Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls.Semantic proximity Read ↗

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

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

In-frame multi-exon deletion of SMC1A in a severely affected female with 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 ↗

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity.Semantic proximity Read ↗

Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.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 individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.Semantic proximity Read ↗

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.Semantic proximity Read ↗

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.Semantic proximity Read ↗

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