ReviewFrontiers in physiology2018
The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
Review in Frontiers in physiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 27 citations in OpenAlex.
- Cryohydrocytosis: When Cold Breaks the Membrane.American journal of hematology · 2026Article
- Mapping Three Decades of Research on Southeast Asian Ovalocytosis: A Bibliometric Analysis.Mediterranean journal of hematology and infectious diseases · 2026Article
- Marked hyperkalemia due to inappropriate blood sample storage in two suspected cases of familial pseudohyperkalemia.CEN case reports · 2023Article
- Article
- Expression pattern of Stomatin-domain proteins in the peripheral olfactory system.Scientific reports · 2022Article
- Reticulocyte Maturation.Membranes · 2022Review
- Editorial: Images from red cell.Frontiers in physiology · 2022Article
- Case Report: Familial Pseudohyperkalemia Due to Red Blood Cell Membrane Leak in a Chinese Patient.Frontiers in medicine · 2022Article
- New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.Frontiers in physiology · 2022Article
- AHaematologica · 2021Article
- Piezo1-xerocytosis red cell metabolome shows impaired glycolysis and increased hemoglobin oxygen affinity.Blood advances · 2021Article
- Atypical hereditary spherocytosis phenotype associated with pseudohypokalaemia and a new variant in the band 3 protein.BMJ case reports · 2020Article
- Erythroid glucose transport in health and disease.Pflugers Archiv : European journal of physiology · 2020Review
- [Pathogenesis and diagnosis of hereditary stomatocytosis].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2020Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Normal human RBCs have a very low basal permeability (leak) to cations, which is continuously corrected by the Na,K-ATPase. The leak is temperature-dependent, and this temperature dependence has been evaluated in the presence of inhibitors to exclude the activity of the Na,K-ATPase and NaK2Cl transporter. The severity of the RBC cation leak is altered in various conditions, most notably the hereditary stomatocytosis group of conditions. Pedigrees within this group have been classified into distinct phenotypes according to various factors, including the severity and temperature-dependence of the cation leak. As recent breakthroughs have provided more information regarding the molecular basis of hereditary stomatocytosis, it has become clear that these phenotypes elegantly segregate with distinct genetic backgrounds. The cryohydrocytosis phenotype, including South-east Asian Ovalocytosis, results from mutations in
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