ArticleInternational journal of hematology2016
PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.
Article in International journal of hematology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 26 citations in OpenAlex.
- Review
- Myelodysplastic syndrome with ring chromosomes in a case of dehydrated hereditary stomatocytosis 1 (DHS1).International journal of hematology · 2025Article
- A Revised Classification of Primary Iron Overload Syndromes.Journal of clinical and translational hepatology · 2024Article
- Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.Human genome variation · 2023Article
- Mechanosensitive Ion Channels and Their Role in Cancer Cells.Membranes · 2023Review
- Mechanosensitive Piezo Channels in Cancer: Focus on altered Calcium Signaling in Cancer Cells and in Tumor Progression.Cancers · 2020Review
- Ion Channels of the Islets in Type 2 Diabetes.Journal of molecular biology · 2020Review
- [Hereditary stomatocytosis with PIEZO1 gene mutations: report of five cases and literature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2019Review
- Red Blood Cells: Chasing Interactions.Frontiers in physiology · 2019Review
- Article
- Dehydrated hereditary stomatocytosis: clinical perspectives.Journal of blood medicine · 2019Article
- Ion Channels in Pulmonary Hypertension: A Therapeutic Interest?International journal of molecular sciences · 2018Review
- Importance of the Average Glucose Level and Estimated Glycated Hemoglobin in a Diabetic Patient with Hereditary Hemolytic Anemia and Liver Cirrhosis.Internal medicine (Tokyo, Japan) · 2018Article
- The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.Frontiers in physiology · 2018Review
- The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis.International journal of hematology · 2018Review
- Disorders of erythrocyte hydration.Blood · 2017Review
- Article
- 'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.Scientific reports · 2017Article
- Hereditary Xerocytosis due to Mutations inCase reports in hematology · 2017Article
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Authors and funding
21 authors at 8 institutions in 1 country.
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Abstract
Hereditary xerocytosis (HX) or dehydrated hereditary stomatocytosis (DHS) [OMIM 194380], in which PIEZO1 gene mutation has recently been identified, is difficult to diagnose. We report here the discovery of a PIEZO1 gene mutation in a Japanese family (father, daughter, and son) who were previously diagnosed with hereditary high phosphatidylcholine hemolytic anemia (HPCHA). All of the affected family members had non-spherocytic hemolytic anemia associated with severe hemochromatosis-related diabetes mellitus. Although the causative correlation between HPCHA and PIEZO1-gene mutated HX/DHS remains to be clarified, our findings raise an important question as to whether any of the HPCHA cases previously diagnosed in Japan may have in fact been the form of hemolytic anemia known as HX/DHS with PIEZO1 gene mutation.
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