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Article

The fetal hydrops-associated single-residue mutation L322P disrupts mechanical but not chemical activation of the PIEZO1 ion channel.

Proceedings of the National Academy of Sciences of the United States of America - 19 Aug 2025

Jiang Jinghui, Guo Wei, Chen Xudong, He Qijing, Wang Yubo, Zhu Xiaohui, Yan Liying, Qiao Jie, Xiao Bailong

Abstract excerpt

The mechanically activated PIEZO1 ion channel is genetically linked to numerous physiological and pathophysiological processes. For example, deleting PIEZO1 in mice leads to defective lymphatic vessel development, while nonsense mutations in humans are associated with autosomal recessive generalized lymphatic dysplasia (GLD) and nonimmune hydrops fetalis. However, it remains unclear whether PIEZO1-dependent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40789030
DOI: 10.1073/pnas.2503793122
PMCID: PMC12377734

Genes

PIEZO1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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