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
PIEZO1 gain-of-function mutation drives cardiomyopathy by disrupting myocardial lipid homeostasis besides iron overload.
Fan C et al.
Science Advances, 2025
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
Piezo1 activation augments sickling propensity and the adhesive properties of sickle red blood cells in a calcium-dependent manner.
Nader E et al.
British Journal of Haematology, 2023
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.
Andolfo I et al.
Blood Advances, 2023
Hereditary Xerocytosis: Differential Behavior of PIEZO1 Mutations in the N-Terminal Extracellular Domain Between Red Blood Cells and HEK Cells.
Yamaguchi Y et al.
Frontiers in Physiology, 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
PIEZO1 activation delays erythroid differentiation of normal and hereditary xerocytosis-derived human progenitor cells.
Caulier A et al.
Haematologica, 2020
Hereditary xerocytosis - spectrum and clinical manifestations of variants in the PIEZO1 gene, including co-occurrence with a novel β-globin mutation.
Maciak K et al.
Blood Cells, Molecules & Diseases, 2020
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Picard V et al.
Haematologica, 2019
[Hereditary stomatocytosis with PIEZO1 gene mutations: report of five cases and literature review].
Li Y et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2019
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