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
41717081 (PubMed )
Supplement: mmc2.xlsx › Change_in_Free_Energy_of_Stabil
Whole-Exome Sequencing of Total Joint Arthroplasty Patients Who Have Known Pulmonary Embolism: A Pilot Study.
Mayfield CK et al.
The Journal of Arthroplasty, 2026
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
Perinatal presentations of non-immune hydrops fetalis due to recessive PIEZO1 disease: A challenging fetal diagnosis.
Ghesh L et al.
Clinical Genetics, 2023
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients.
Andolfo I et al.
Genes, 2021
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Vuckovic D et al.
Cell, 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
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Picard V et al.
Haematologica, 2019
Sagittal Craniosynostosis with Uncommon Anatomical Pathologies in a 56-Year-Old Male Cadaver.
Frolov A et al.
Case Reports in Pathology, 2019
Piezo proteins: regulators of mechanosensation and other cellular processes.
Bagriantsev SN et al.
The Journal of Biological Chemistry, 2014
A probabilistic model to predict clinical phenotypic traits from genome sequencing.
Chen YC et al.
Plos Computational Biology, 2014
25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12
Select a paper to view details