Associated Papers
Mechanistic Consequences of Piezo1 Gain-of-Function Variants for Decreased Red Cell Survival in Hereditary Xerocytosis.
Makhro A et al.
American Journal of Hematology, 2026
41504168 (PubMed )
Supplement: AJH-101-619-s001.xlsx › Sheet1
[Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].
Wang Q et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
34645491 (PubMed )
Supplement: 13073_2021_965_MOESM1_ESM.xlsx › Table_S1
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
[Hereditary xerocytosis. Presentation of two pediatric cases].
Eandi Eberle S et al.
Archivos Argentinos De Pediatria, 2019
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Picard V et al.
Haematologica, 2019
[Hereditary stomatocytosis with PIEZO1 gene mutations: report of five cases and literature review].
Li Y et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2019
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias.
Petkova-Kirova P et al.
Frontiers in Physiology, 2019
Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.
Berhe S et al.
Haematologica, 2018
PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.
Andolfo I et al.
Haematologica, 2018
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.
Glogowska E et al.
Blood, 2017
Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families.
Fermo E et al.
Case Reports in Hematology, 2017
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Albuisson J et al.
Nature Communications, 2013
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