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Cited by 313

The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1

Open access
Bae, Chilman, Gnanasambandam, Radhakrishnan, Nicolai, Chris, Sachs, Frederick, Gottlieb, Philip A.·2013·Proceedings of the National Academy of Sciences

Abstract

Significance: Familial xerocytosis in humans, which causes dehydration of red blood cells and hemolytic anemia, was traced to mutations in the mechanosensitive ion channel, PIEZO1. The mutations slowed inactivation and introduced a pronounced latency for activation. Loss of inactivation and increased latency for activation could modify groups of channels simultaneously, suggesting that they exist in common spatial domains. The hereditary xerocytosis mutants affect red cell cation fluxes: slow inactivation increases them, and increased latency decreases them. These data provide a direct link between pathology and mechanosensitive channel dysfunction in nonsensory cells.

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Crossref · 10.1073/pnas.1219777110

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Metadata

Authors
Bae, C., Gnanasambandam, R., Nicolai, C., Sachs, F., & Gottlieb, P. A.
Venue
Proceedings of the National Academy of Sciences
Published
2013-03-04
Volume
110
Issue
12
Pages
E1162-8
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
OpenAlex
W2134577432
Cited by
313
References
1
FWCI
14.69
Type
journal article
Language
en
Open access
bronze

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