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
Clinical and Genetic Analysis of Dehydrated Hereditary Stomatocytosis: A Case Report.
Ming C et al.
Clinical Case Reports, 2025
PIEZO1 variant implications for biological understanding and human health.
Cheng CW et al.
Open Biology, 2025
HFE-Related Hemochromatosis May Be a Primary Kupffer Cell Disease.
Kouroumalis E et al.
Biomedicines, 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
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Ghesh L et al.
Clinical Genetics, 2023
Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge.
Rosato BE et al.
Haematologica, 2022
Recent advances in the pathophysiology of PIEZO1-related hereditary xerocytosis.
Jankovsky N et al.
American Journal of Hematology, 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
Gain-of-function mutations in PIEZO1 directly impair hepatic iron metabolism via the inhibition of the BMP/SMADs pathway.
Andolfo I et al.
American Journal of Hematology, 2020
Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells.
Rivera A et al.
American Journal of Physiology. Cell Physiology, 2019
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
Dietary fatty acids fine-tune Piezo1 mechanical response.
Romero LO et al.
Nature Communications, 2019
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Flatt JF et al.
Frontiers in Physiology, 2018
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.
Glogowska E et al.
Blood, 2017
Advances in understanding the pathogenesis of the red cell volume disorders.
Badens C et al.
British Journal of Haematology, 2016
Hereditary xerocytosis revisited.
Archer NM et al.
American Journal of Hematology, 2014
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.
Andolfo I et al.
Blood, 2013