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Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.

Blood advances - 27 Jun 2023

Andolfo Immacolata, Monaco Vittoria, Cozzolino Flora, Rosato Barbara Eleni, Marra Roberta, Cerbone Vincenza, Pinto Valeria Maria, Forni Gian Luca, Unal Sule, Iolascon Achille, Monti Maria, Russo Roberta

Abstract excerpt

Gain-of-function mutations in PIEZO1 cause dehydrated hereditary stomatocytosis (DHS) or hereditary xerocytosis, an autosomal dominant hemolytic anemia characterized by high reticulocyte count, a tendency to macrocytosis, and mild jaundice, as well as by other variably penetrant clinical features, such as perinatal edema, severe thromboembolic complications after splenectomy, and hepatic iron overload. PIEZO1...

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Anemia, Hemolytic, Congenital
Erythrocytes
Gain of Function Mutation
Hydrops Fetalis
Ion Channels

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Identifiers

PMID: 36595486
DOI: 10.1182/bloodadvances.2022008673
PMCID: PMC10333744

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