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
Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias.
Nostroso A et al.
Hemasphere, 2026
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS5
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
PIEZO1 variants that reduce open channel probability are associated with familial osteoarthritis.
Jurynec MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Proteome alterations in erythrocytes with PIEZO1 gain-of-function mutations.
Andolfo I et al.
Blood Advances, 2023
Piezo1 is required for outflow tract and aortic valve development.
Faucherre A et al.
Journal of Molecular and Cellular Cardiology, 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
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
Andolfo I et al.
American Journal of Hematology, 2018
Hereditary xerocytosis, a misleading anemia.
Del Orbe Barreto R et al.
Annals of Hematology, 2016
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
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