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
[Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].
Wang Q et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 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
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.
Andolfo I et al.
Blood Advances, 2023
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.
Zama D et al.
Italian Journal of Pediatrics, 2020
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
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Picard V et al.
Haematologica, 2019
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