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http://purl.uniprot.org/citations/29576450http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/29576450http://www.w3.org/2000/01/rdf-schema#comment"Hereditary xerocytosis is thought to be a rare genetic condition characterized by red blood cell (RBC) dehydration with mild hemolysis. RBC dehydration is linked to reduced Plasmodium infection in vitro; however, the role of RBC dehydration in protection against malaria in vivo is unknown. Most cases of hereditary xerocytosis are associated with gain-of-function mutations in PIEZO1, a mechanically activated ion channel. We engineered a mouse model of hereditary xerocytosis and show that Plasmodium infection fails to cause experimental cerebral malaria in these mice due to the action of Piezo1 in RBCs and in T cells. Remarkably, we identified a novel human gain-of-function PIEZO1 allele, E756del, present in a third of the African population. RBCs from individuals carrying this allele are dehydrated and display reduced Plasmodium infection in vitro. The existence of a gain-of-function PIEZO1 at such high frequencies is surprising and suggests an association with malaria resistance."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.org/dc/terms/identifier"doi:10.1016/j.cell.2018.02.047"xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Ma S."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Janse C.J."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Khan S.M."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Winzeler E.A."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Zeng W."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Berry L."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Wengelnik K."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Su A.I."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Murthy S.E."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Patapoutian A."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Schmedt C."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Whitwam T."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Honore E."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Bandell M."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Cahalan S."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Grubaugh N.D."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Andersen K.G."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"LaMonte G."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Lukacs V."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Lohia R."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Gamini R."xsd:string
http://purl.uniprot.org/citations/29576450http://purl.uniprot.org/core/author"Loud M."xsd:string