Associated Papers
Mechanistic Consequences of Piezo1 Gain-of-Function Variants for Decreased Red Cell Survival in Hereditary Xerocytosis.
Makhro A et al.
American Journal of Hematology, 2026
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
Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions.
Vargo SG et al.
Prenatal Diagnosis, 2026
Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias.
Nostroso A et al.
Hemasphere, 2026
PIP2 corrects an endothelial Piezo1 channelopathy.
Hashad AM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
[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
Structure of human PIEZO1 and its slow-inactivating channelopathy mutants.
Shan Y et al.
Elife, 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
RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis.
Rosato BE et al.
American Journal of Hematology, 2025
Piezo1-mediated mechanotransduction enhances macrophage oxidized low-density lipoprotein uptake and atherogenesis.
Atcha H et al.
Pnas Nexus, 2024
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
Hereditary Hemolytic Anemia Due to PIEZO1 Red Blood Cell Membrane Defect.
Dryllis G et al.
Hemoglobin, 2024
Dehydrated hereditary stomatocytosis masquerading as primary haemochromatosis: a diagnostic challenge.
Jamwal M et al.
Pathology, 2023
Mechanisms of PIEZO Channel Inactivation.
Zhou Z et al.
International Journal of Molecular Sciences, 2023
Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia.
Choi YJ et al.
Bmc Medical Genomics, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Ghesh L et al.
Clinical Genetics, 2023
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Faas BHW et al.
Prenatal Diagnosis, 2023
Hereditary anemia caused by multilocus inheritance of PIEZO1, SLC4A1 and ABCB6 mutations: a diagnostic and therapeutic challenge.
Rosato BE et al.
Haematologica, 2022
The mechanosensitive ion channel PIEZO1 is expressed in tendons and regulates physical performance.
Nakamichi R et al.
Science Translational Medicine, 2022
Diagnosis and clinical management of red cell membrane disorders.
Kalfa TA
Hematology. American Society of Hematology. Education Program, 2021
Shear-stress sensing by PIEZO1 regulates tendon stiffness in rodents and influences jumping performance in humans.
Passini FS et al.
Nature Biomedical Engineering, 2021
Recent advances in the pathophysiology of PIEZO1-related hereditary xerocytosis.
Jankovsky N et al.
American Journal of Hematology, 2021
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Andolfo I et al.
Genes, 2021
Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.
Fermo E et al.
Frontiers in Physiology, 2021
Recommendations for Pregnancy in Rare Inherited Anemias.
Taher AT et al.
Hemasphere, 2020
Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias.
Bharadwaj R et al.
International Journal of Hematology-oncology and Stem Cell Research, 2020
PIEZO1 gain-of-function mutations delay reticulocyte maturation in hereditary xerocytosis.
Moura PL et al.
Haematologica, 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
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
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
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
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
Dietary fatty acids fine-tune Piezo1 mechanical response.
Romero LO et al.
Nature Communications, 2019
PIEZO1 Hypomorphic Variants in Congenital Lymphatic Dysplasia Cause Shape and Hydration Alterations of Red Blood Cells.
Andolfo I et al.
Frontiers in Physiology, 2019
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias.
Petkova-Kirova P et al.
Frontiers in Physiology, 2019
Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.
Orvain C et al.
European Journal of Haematology, 2018
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Kager L et al.
British Journal of Haematology, 2018
Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection.
Ma S et al.
Cell, 2018
Voltage gating of mechanosensitive PIEZO channels.
Moroni M et al.
Nature Communications, 2018