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Article

Genetic Diversity in the Suppressyn Gene Sequence: From Polymorphisms to Loss-of-Function Mutations.

Biomolecules - 21 Jul 2025

Sugimoto Jun, Schust Danny J, Nagamatsu Takeshi, Jinno Yoshihiro, Kudo Yoshiki

Abstract excerpt

The suppressive regulator of cell fusion, suppressyn, is specifically expressed in the human placenta and is thought to play a crucial role in trophoblast fusion or syncytialization. Previous studies have suggested that alterations in its expression are associated with aberrant placental development, such as the immature placental morphology observed in Down syndrome, and may contribute to the pathogenesis of...

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PMID: 40723922
DOI: 10.3390/biom15071051
PMCID: PMC12293451

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