Associated Papers
Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.
Gueuning M et al.
Blood Advances, 2026
A conserved Piezo-mRPL2/Jun axis controls reproduction via mitochondrial bioenergetics.
Luo J et al.
Insect Biochemistry and Molecular Biology, 2025
Severe Hemolytic Phenotype in Children With Sickle Cell Anemia and Co-Inherited Red Blood Cell Variants.
Srinivas M et al.
Pediatric Blood & Cancer, 2025
Human genetic variations conferring resistance to malaria.
Zhang X et al.
Journal of Translational Medicine, 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
Coinheritance of polymorphic alleles of PIEZO1, G6PD and HBB enhances protection against malaria.
Abad P et al.
One Health (amsterdam, Netherlands), 2025
HFE-Related Hemochromatosis May Be a Primary Kupffer Cell Disease.
Kouroumalis E et al.
Biomedicines, 2025
Relevance of the E756del common variant in the PIEZO1 gene for haemolytic anaemia and hepatic iron overload.
Esposito FM et al.
British Journal of Haematology, 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
The cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins.
Stewart GW et al.
British Journal of Haematology, 2023
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
Kirkham JK et al.
Jama Network Open, 2023
Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
Shome DK et al.
Annals of Hematology, 2023
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
PIEZO1 gain-of-function gene variant is associated with elevated tendon stiffness in humans.
Götschi T et al.
Journal of Applied Physiology (bethesda, Md. : 1985), 2023
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.
Andolfo I et al.
Blood Advances, 2023
Emerging drug targets for sickle cell disease: shedding light on new knowledge and advances at the molecular level.
Gibson JS et al.
Expert Opinion on Therapeutic Targets, 2023
Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens.
Karamatic Crew V et al.
Blood, 2023
The mechanosensitive ion channel PIEZO1 is expressed in tendons and regulates physical performance.
Nakamichi R et al.
Science Translational Medicine, 2022
Revisiting the malaria hypothesis: accounting for polygenicity and pleiotropy.
Ebel ER et al.
Trends in Parasitology, 2022
Human genetic variant E756del in the ion channel PIEZO1 not associated with protection from severe malaria in a large Ghanaian study.
Thye T et al.
Journal of Human Genetics, 2022
Shear-stress sensing by PIEZO1 regulates tendon stiffness in rodents and influences jumping performance in humans.
Passini FS et al.
Nature Biomedical Engineering, 2021
Common host variation drives malaria parasite fitness in healthy human red cells.
Ebel ER et al.
Elife, 2021
Recent advances in the pathophysiology of PIEZO1-related hereditary xerocytosis.
Jankovsky N et al.
American Journal of Hematology, 2021
A common polymorphism in the mechanosensitive ion channel PIEZO1 is associated with protection from severe malaria in humans.
Nguetse CN et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Advances in understanding the pathogenesis of red cell membrane disorders.
Iolascon A et al.
British Journal of Haematology, 2019
A gain of function variant in PIEZO1 (E756del) and sickle cell disease.
Rooks H et al.
Haematologica, 2019
Dehydrated hereditary stomatocytosis: clinical perspectives.
Frederiksen H
Journal of Blood Medicine, 2019
Abundance of ethnically biased microsatellites in human gene regions.
Kinney N et al.
Plos One, 2019
Sickle cell disease in the era of precision medicine: looking to the future.
Steinberg MH et al.
Expert Review of Precision Medicine and Drug Development, 2019
A common functional PIEZO1 deletion allele associates with red blood cell density in sickle cell disease patients.
Ilboudo Y et al.
American Journal of Hematology, 2018
Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection.
Ma S et al.
Cell, 2018