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Article

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

The Journal of clinical investigation - 1 Sept 2014

Payne Felicity, Colnaghi Rita, Rocha Nuno, Seth Asha, Harris Julie, Carpenter Gillian, Bottomley William E, Wheeler Eleanor, Wong Stephen, Saudek Vladimir, Savage David, O'Rahilly Stephen, Carel Jean-Claude, Barroso Inês, O'Driscoll Mark, Semple Robert

Abstract excerpt

Structural maintenance of chromosomes (SMC) complexes are essential for maintaining chromatin structure and regulating gene expression. Two the three known SMC complexes, cohesin and condensin, are important for sister chromatid cohesion and condensation, respectively; however, the function of the third complex, SMC5-6, which includes the E3 SUMO-ligase NSMCE2 (also widely known as MMS21) is less clear. Here, we...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25105364
DOI: 10.1172/JCI73264
PMCID: PMC4151221

Genes

NSMCE2
BLM
SMC5

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

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Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.PMID 25105364Read ↗

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Separation-of-Function Alleles of smc-5 Reveal Domain-Specific Defects and a Conserved Residue Critical for Genome Maintenance.Semantic proximity Read ↗

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