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Article

Cohesin variants associated with human reproductive and developmental disorders.

Journal of genetics and genomics = Yi chuan xue bao - 1 Sept 2026

Liu Yuanyuan, Zhou Jun

Abstract excerpt

The cohesin complex is an evolutionarily conserved multi-subunit protein assembly essential for sister chromatid cohesion, meiotic recombination, DNA double-strand break repair, and transcriptional regulation. Pathogenic variants in its subunits are implicated in a spectrum of reproductive and developmental disorders, including non-obstructive azoospermia, premature ovarian insufficiency, reproductive aging,...

Read the complete abstract on PubMed

Topics

Humans
Cohesins
Cell Cycle Proteins
Chromosomal Proteins, Non-Histone
Female
Mutation
De Lange Syndrome

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

Ectromelia

Developmental Disabilities

Craniofacial Abnormalities

Hypertelorism

Source

Identifiers

PMID: 42103099
DOI: 10.1016/j.jgg.2026.04.024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

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