Article
PIEZO1-dependent erythrocyte dehydration as the mechanism for selection of an allele protecting from severe malaria
2022-04-01
Abstract excerpt
PIEZO1 is a cation specific mechanoreceptor channel implicated in red blood cell (RBC) volume homeostasis. Several PIEZO1 gain of function (GoF) variants demonstrate delayed channel inactivation and can cause hereditary xerocytosis (HX), a disease characterized by hemolytic anemia, RBC dehydration, and shape distortion. The milder PIEZO1 E756del GoF variant, prevalent in populations of African descent, protects c...
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Identifiers and source
- Literature Corpus work
- b9ae535e-d320-5c10-9920-a9dedabfc88a
- DOI
- 10.1101/2022.03.31.486604
