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
[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
PIEZO1 variant implications for biological understanding and human health.
Cheng CW et al.
Open Biology, 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
Mechanisms of PIEZO Channel Inactivation.
Zhou Z et al.
International Journal of Molecular Sciences, 2023
Identifying interpretable gene-biomarker associations with functionally informed kernel-based tests in 190,000 exomes.
Monti R et al.
Nature Communications, 2022
Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias.
Bharadwaj R et al.
International Journal of Hematology-oncology and Stem Cell Research, 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
Low HbA1c With Normal Hemoglobin in a Diabetes Patient Caused by PIEZO1 Gene Variant: A Case Report.
Song A et al.
Frontiers in Endocrinology, 2020
[Hereditary xerocytosis. Presentation of two pediatric cases].
Eandi Eberle S et al.
Archivos Argentinos De Pediatria, 2019
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Picard V et al.
Haematologica, 2019
A novel gain-of-function mutation of Piezo1 is functionally affirmed in red blood cells by high-throughput patch clamp.
Rotordam MG et al.
Haematologica, 2019
Voltage gating of mechanosensitive PIEZO channels.
Moroni M et al.
Nature Communications, 2018
Hereditary stomatocytosis: An underdiagnosed condition.
Andolfo I et al.
American Journal of Hematology, 2018
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Flatt JF et al.
Frontiers in Physiology, 2018
Hereditary xerocytosis revisited.
Archer NM et al.
American Journal of Hematology, 2014
Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.
Nikolaev SI et al.
Blood, 2013
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
Andolfo I et al.
Blood, 2013
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Albuisson J et al.
Nature Communications, 2013