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
PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue.
Ludlow MJ et al.
Iscience, 2025
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 is the most common monogenic etiology of non-immune hydrops fetalis detected by prenatal exome sequencing.
Brewer CJ et al.
Prenatal Diagnosis, 2023
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
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
Genetic heterogeneity in primary and relapsed mantle cell lymphomas: Impact of recurrent CARD11 mutations.
Wu C et al.
Oncotarget, 2016
27224912 (PubMed )
Supplement: oncotarget-07-38180-s001.pdf
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 985.382
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