PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue

Summary: PIEZO1 variants have been associated with generalized lymphatic dysplasia (GLD) through mechanisms involving reduced PIEZO1 expression. Here, we report variants where the mechanism involves reduced channel mechanical sensitivity. Two of the variants encode amino acid changes in the channel’...

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Bibliographic Details
Main Authors:	Melanie J. Ludlow, Oleksandr V. Povstyan, Deborah M. Linley, Silvia Martin-Almedina, Charlotte Revill, Kevin Cuthbertson, Katie A. Smith, Emily Fay, Elisavet Fotiou, Andrew Bush, Claire Hogg, Tobias Linden, Natalie B. Tan, Susan M. White, Juan C. Del Rey Jimenez, Ege Sackey, Esther Dempsey, Sahar Mansour, Gregory Parsonage, Antreas C. Kalli, Richard Foster, Pia Ostergaard, David J. Beech
Format:	Article
Language:	English
Published:	Elsevier 2025-08-01
Series:	iScience
Subjects:	Pharmacology Cell biology
Online Access:	http://www.sciencedirect.com/science/article/pii/S2589004225013719
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PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue

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