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RBCs prevent rapid PIEZO1 inactivation and expose slow deactivation as a mechanism of dehydrated hereditary stomatocytosis.红细胞可防止PIEZO1快速失活，并将缓慢失活作为脱水遗传性口形红细胞增多症的一种机制表现出来。
Blood. 2020 Jul 2;136(1):140-144. doi: 10.1182/blood.2019004174.
2
Mechanosensitive Piezo1 ion channel protein (PIEZO1 gene): update and extended mutation analysis of hereditary xerocytosis in India.机械敏感型 Piezo1 离子通道蛋白（PIEZO1 基因）：对印度遗传性血红细胞增多症的更新和扩展突变分析。
Ann Hematol. 2020 Apr;99(4):715-727. doi: 10.1007/s00277-020-03955-1. Epub 2020 Feb 28.
3
Dehydrated hereditary stomatocytosis.脱水遗传性口形红细胞增多症
Am J Hematol. 2016 Feb;91(2):266. doi: 10.1002/ajh.24212. Epub 2015 Nov 17.
4
Erythrocyte ion content and dehydration modulate maximal Gardos channel activity in KCNN4 V282M/+ hereditary xerocytosis red cells.红细胞离子含量和脱水调节 KCNN4 V282M/+遗传性非球形细胞增多症红细胞中最大 Gardos 通道活性。
Am J Physiol Cell Physiol. 2019 Aug 1;317(2):C287-C302. doi: 10.1152/ajpcell.00074.2019. Epub 2019 May 15.
5
Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc.对于KCNN4 V282M杂合的遗传性口形红细胞增多症患者，其红细胞表现出自发性加尔多斯通道样活性增加，且该活性受到司尼可泊抑制。
Am J Hematol. 2017 Jun;92(6):E108-E110. doi: 10.1002/ajh.24716. Epub 2017 Apr 29.
6
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.与机械激活的 PIEZO1 离子通道功能获得性突变相关的脱水遗传性口炎性腹泻。
Nat Commun. 2013;4:1884. doi: 10.1038/ncomms2899.
7
Hemoglobin C trait accentuates erythrocyte dehydration in hereditary xerocytosis.血红蛋白C性状会加重遗传性口形红细胞增多症中的红细胞脱水。
Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26444. Epub 2017 Jan 25.
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Hereditary xerocytosis: Diagnostic considerations.遗传性口形红细胞增多症：诊断考量
Am J Hematol. 2018 Mar;93(3):E67-E69. doi: 10.1002/ajh.24996. Epub 2017 Dec 23.
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Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.机械敏感性阳离子通道PIEZO1中杂合突变R2456H导致的脱水口形红细胞贫血：一例报告
Blood Cells Mol Dis. 2014 Jan;52(1):53-4. doi: 10.1016/j.bcmd.2013.07.015. Epub 2013 Aug 23.
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A novel PIEZO1 mutation in a patient with dehydrated hereditary stomatocytosis: a case report and a brief review of literature.一例遗传性口炎性腹泻患者中新型 PIEZO1 突变：病例报告及文献复习
Ital J Pediatr. 2020 Jul 23;46(1):102. doi: 10.1186/s13052-020-00864-x.

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Mechanotransduction mechanisms in human erythrocytes: Fundamental physiology and clinical significance.人类红细胞中的机械转导机制：基础生理学与临床意义
Channels (Austin). 2025 Dec;19(1):2556105. doi: 10.1080/19336950.2025.2556105. Epub 2025 Sep 10.
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PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue.Piezo1在全身性淋巴管发育异常中的机械不敏感性及药物挽救潜力
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variant implications for biological understanding and human health.对生物学理解和人类健康的变异影响。
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Endothelial force sensing signals to parenchymal cells to regulate bile and plasma lipids.内皮细胞力感应信号传递到实质细胞，以调节胆汁和血浆脂质。
Sci Adv. 2024 Sep 27;10(39):eadq3075. doi: 10.1126/sciadv.adq3075.
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The Gárdos Channel and Piezo1 Revisited: Comparison between Reticulocytes and Mature Red Blood Cells.再探加德纳斯通道和压电蛋白 1：网织红细胞与成熟红细胞的比较。
Int J Mol Sci. 2024 Jan 24;25(3):1416. doi: 10.3390/ijms25031416.
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A high-throughput electrophysiology assay to study the response of PIEZO1 to mechanical stimulation.一种高通量电生理学检测方法，用于研究机械刺激对 PIEZO1 的响应。
J Gen Physiol. 2023 Dec 4;155(12). doi: 10.1085/jgp.202213132. Epub 2023 Oct 6.
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Dual action of Dooku1 on PIEZO1 channel in human red blood cells.杜库1对人红细胞中PIEZO1通道的双重作用。
Front Physiol. 2023 Jul 10;14:1222983. doi: 10.3389/fphys.2023.1222983. eCollection 2023.
8
PIEZO1 and PECAM1 interact at cell-cell junctions and partner in endothelial force sensing.PIEZO1 和 PECAM1 在细胞-细胞连接处相互作用，并在血管内皮细胞力感应中形成伙伴关系。
Commun Biol. 2023 Apr 1;6(1):358. doi: 10.1038/s42003-023-04706-4.
9
The erythroid K-Cl cotransport inhibitor [(dihydroindenyl)oxy]acetic acid blocks erythroid Ca-activated K channel KCNN4.红系细胞 K-Cl 协同转运抑制剂 [(二氢茚基)氧基]乙酸阻断红系细胞 Ca 激活的 K 通道 KCNN4。
Am J Physiol Cell Physiol. 2022 Sep 1;323(3):C694-C705. doi: 10.1152/ajpcell.00240.2022. Epub 2022 Jul 18.
10
Global PIEZO1 Gain-of-Function Mutation Causes Cardiac Hypertrophy and Fibrosis in Mice.全球 PIEZO1 功能获得性突变导致小鼠心脏肥大和纤维化。
Cells. 2022 Apr 2;11(7):1199. doi: 10.3390/cells11071199.

本文引用的文献

1
Calcium Channels and Calcium-Regulated Channels in Human Red Blood Cells.人红细胞中的钙通道和钙调节通道。
Adv Exp Med Biol. 2020;1131:625-648. doi: 10.1007/978-3-030-12457-1_25.
2
Force Sensing by Piezo Channels in Cardiovascular Health and Disease.压电通道在心血管健康和疾病中的力感应
Arterioscler Thromb Vasc Biol. 2019 Nov;39(11):2228-2239. doi: 10.1161/ATVBAHA.119.313348. Epub 2019 Sep 19.
3
Advances in understanding the pathogenesis of red cell membrane disorders.红细胞膜疾病发病机制研究进展。
Br J Haematol. 2019 Oct;187(1):13-24. doi: 10.1111/bjh.16126. Epub 2019 Jul 31.
4
Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms.PIEZO2基因的突变与戈登综合征、马登-沃克综合征和远端关节挛缩症有关：机制的生物信息学分析
Exp Ther Med. 2019 May;17(5):3518-3524. doi: 10.3892/etm.2019.7381. Epub 2019 Mar 13.
5
Increased Red Cell KCNN4 Activity in Sporadic Hereditary Xerocytosis Associated With Enhanced Single Channel Pressure Sensitivity of PIEZO1 Mutant V598M.与PIEZO1突变体V598M单通道压力敏感性增强相关的散发性遗传性口形红细胞增多症中红细胞KCNN4活性增加。
Hemasphere. 2018 Oct;2(5):e55. doi: 10.1097/HS9.0000000000000055. Epub 2018 Oct 2.
6
A novel gain-of-function mutation of Piezo1 is functionally affirmed in red blood cells by high-throughput patch clamp.通过高通量膜片钳技术在红细胞中功能验证了一种新的Piezo1功能获得性突变。
Haematologica. 2019 May;104(5):e179-e183. doi: 10.3324/haematol.2018.201160. Epub 2018 Sep 20.
7
Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection.非洲人群中常见的 PIEZO1 等位基因导致 RBC 脱水并减弱疟原虫感染。
Cell. 2018 Apr 5;173(2):443-455.e12. doi: 10.1016/j.cell.2018.02.047. Epub 2018 Mar 22.
8
Piezos thrive under pressure: mechanically activated ion channels in health and disease.压敏通道：健康与疾病中的机械激活型离子通道。
Nat Rev Mol Cell Biol. 2017 Dec;18(12):771-783. doi: 10.1038/nrm.2017.92. Epub 2017 Oct 4.
9
Piezo1 channels sense whole body physical activity to reset cardiovascular homeostasis and enhance performance.Piezo1通道感知全身身体活动，以重置心血管稳态并提高运动表现。
Nat Commun. 2017 Aug 24;8(1):350. doi: 10.1038/s41467-017-00429-3.
10
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.遗传性口形细胞增多症中PIEZO1功能障碍的新机制。
Blood. 2017 Oct 19;130(16):1845-1856. doi: 10.1182/blood-2017-05-786004. Epub 2017 Jul 17.

RBCs prevent rapid PIEZO1 inactivation and expose slow deactivation as a mechanism of dehydrated hereditary stomatocytosis.

作者信息

Evans Elizabeth L, Povstyan Oleksandr V, De Vecchis Dario, Macrae Fraser, Lichtenstein Laeticia, Futers T Simon, Parsonage Gregory, Humphreys Neil E, Adamson Antony, Kalli Antreas C, Ludlow Melanie J, Beech David J

机构信息

School of Medicine, University of Leeds, Leeds, United Kingdom; and.

Faculty of Biology, Medicine and Health, University of Manchester, AV Hill Building, Manchester, United Kingdom.

出版信息

Blood. 2020 Jul 2;136(1):140-144. doi: 10.1182/blood.2019004174.

DOI:10.1182/blood.2019004174
PMID:32305040
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7381761/
Abstract
摘要