Human phenotypes caused byPIEZO1mutations; one gene, two overlapping phenotypes?
Author:
Affiliation:
1. Molecular and Clinical Sciences Institute; St George's, University of London; London UK
2. South West Thames Regional Genetics Unit; St George's, University of London; London UK
Funder
Newlife Foundation for Disabled Children
British Heart Foundation
Publisher
Wiley
Subject
Physiology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1113/JP275718/fullpdf
Reference31 articles.
1. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels;Albuisson;Nat Commun,2013
2. First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis;Ami;Prenat Diagn,2009
3. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1;Andolfo;Blood,2013
4. Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1;Bae;Proc Natl Acad Sci USA,2013
5. Etiology of non-immune hydrops fetalis: an update;Bellini;Am J Med Genet Part A,2015
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1. Lysis of human erythrocytes due to Piezo1-dependent cytosolic calcium overload as a mechanism of circulatory removal;Proceedings of the National Academy of Sciences;2024-08-29
2. Congenital lymphatic dysplasia and severe bone disease in a term neonate with a novel homozygous PIEZO1 variant;Clinical Case Reports;2024-06
3. Piezo1 regulates meningeal lymphatic vessel drainage and alleviates excessive CSF accumulation;Nature Neuroscience;2024-03-25
4. Yoda1 opens the lymphatic path for craniosynostosis therapy;Journal of Clinical Investigation;2024-02-15
5. The role of mechanically sensitive ion channel Piezo1 in bone remodeling;Frontiers in Bioengineering and Biotechnology;2024-02-08
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