ArticleBlood2015
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.
Article in Blood, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 113 citations in OpenAlex.
- Gardos channelopathies: novel insights into KCNN4 mutations and their clinical impact.Journal of human genetics · 2026Article
- The European Biophysics Journal Prizes 2025: Recognising biophysical science at sub-cellular, cellular and tissue levels of organisation.European biophysics journal : EBJ · 2026Review
- Nap1L4a Cooperates with Scl/Klf1 to Recruit H2A.Z in Mediating Interactions Among Cis-Regulatory Elements and Transcription Required for Primitive Erythropoiesis in Zebrafish.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- [Dehydrated hereditary stomatocytosis in 23 cases: a single-center retrospective cohort study from Peking Union Medical College Hospital (2018-2024)].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Article
- Advances on the genetic basis of red cell membrane disorders.Current opinion in hematology · 2025Review
- Design and structural basis of selective 1,4-dihydropyridine inhibitors of the calcium-activated potassium channel KProceedings of the National Academy of Sciences of the United States of America · 2025Article
- 6,7-Dichloro-1H-indole-2,3-dione-3-oxime functions as a superagonist for the intermediate-conductance CaMolecular pharmacology · 2025Article
- Mechanosensitive channel Piezo1 in calcium dynamics: structure, function, and emerging therapeutic strategies.Frontiers in molecular biosciences · 2025Review
- Phospholipid scrambling induced by an ion channel/metabolite transporter complex.Nature communications · 2024Article
- Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis.Nature communications · 2024Article
- The Gárdos Channel and Piezo1 Revisited: Comparison between Reticulocytes and Mature Red Blood Cells.International journal of molecular sciences · 2024Article
- The circulatory dynamics of human red blood cell homeostasis: Oxy-deoxy and PIEZO1-triggered changes.Biophysical journal · 2023Article
- CaMolecules (Basel, Switzerland) · 2023Review
- KCurrent neuropharmacology · 2023Review
- Channelopathy-causing mutations in the SCell calcium · 2022Article
- Fluorescence-coupled micropipette aspiration assay to examine calcium mobilization caused by red blood cell mechanosensing.European biophysics journal : EBJ · 2022Article
- New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.Frontiers in physiology · 2022Article
- The Function of Ion Channels and Membrane Potential in Red Blood Cells: Toward a Systematic Analysis of the Erythroid Channelome.Frontiers in physiology · 2022Article
- Red blood cell proteomics reveal remnant protein biosynthesis and folding pathways in PIEZO1-related hereditary xerocytosis.Frontiers in physiology · 2022Article
- The Molecular Biodiversity of Protein Targeting and Protein Transport Related to the Endoplasmic Reticulum.International journal of molecular sciences · 2021Review
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5 authors at 1 institution in 1 country.
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Abstract
Hereditary xerocytosis (HX; MIM 194380) is an autosomal-dominant hemolytic anemia characterized by primary erythrocyte dehydration. In many patients, heterozygous mutations associated with delayed channel inactivation have been identified in PIEZO1. This report describes patients from 2 well-phenotyped HX kindreds, including from one of the first HX kindreds described, who lack predicted heterozygous PIEZO1-linked variants. Whole-exome sequencing identified novel, heterozygous mutations affecting the Gardos channel, encoded by the KCNN4 gene, in both kindreds. Segregation analyses confirmed transmission of the Gardos channel mutations with disease phenotype in affected individuals. The KCNN4 variants were different mutations in the same residue, which is highly conserved across species and within members of the small-intermediate family of calcium-activated potassium channel proteins. Both mutations were predicted to be deleterious by mutation effect algorithms. In sickle erythrocytes, the Gardos channel is activated under deoxy conditions, leading to cellular dehydration due to salt and water loss. The identification of KCNN4 mutations in HX patients supports recent studies that indicate it plays a critical role in normal erythrocyte deformation in the microcirculation and participates in maintenance of erythrocyte volume homeostasis.
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