Associated Papers
Deciphering gain-of-function from loss-of-function variants with AlphaMissense: A case study with the mechanosensitive PIEZO1 ion channel protein.
Pillai J et al.
Biochemistry and Biophysics Reports, 2026
41717081 (PubMed )
Supplement: mmc2.xlsx › Change_in_Free_Energy_of_Stabil
A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.
Fustino NJ et al.
Annals of African Medicine, 2024
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.
Andolfo I et al.
Blood Advances, 2023
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Andolfo I et al.
Genes, 2021
Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.
More TA et al.
Annals of Hematology, 2020
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
Andolfo I et al.
American Journal of Hematology, 2018
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