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
Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions.
Vargo SG et al.
Prenatal Diagnosis, 2026
PIEZO1 variant implications for biological understanding and human health.
Cheng CW et al.
Open Biology, 2025
Hereditary stomatocytosis in the general population: A genetically based prevalence estimate from a 109 039 individual Danish cohort.
Mottelson M et al.
American Journal of Hematology, 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
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.
Al-Kouatly HB et al.
Clinical Genetics, 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 utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing.
Swanson K et al.
Prenatal Diagnosis, 2022
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Al-Hamed MH et al.
Human Genetics, 2022
Diagnosis and clinical management of red cell membrane disorders.
Kalfa TA
Hematology. American Society of Hematology. Education Program, 2021
Recent advances in the pathophysiology of PIEZO1-related hereditary xerocytosis.
Jankovsky N et al.
American Journal of Hematology, 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
Hereditary Xerocytosis: Differential Behavior of PIEZO1 Mutations in the N-Terminal Extracellular Domain Between Red Blood Cells and HEK Cells.
Yamaguchi Y et al.
Frontiers in Physiology, 2021
Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.
Sparks TN et al.
The New England Journal of Medicine, 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
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
Genotype-phenotype correlation and risk stratification in a cohort of 123 hereditary stomatocytosis patients.
Andolfo I et al.
American Journal of Hematology, 2018
Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M.
Gnanasambandam R et al.
Hemasphere, 2018
Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis.
Rapetti-Mauss R et al.
Haematologica, 2017