Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis).
作者信息
Demolombe Sophie, Duprat Fabrice, Honoré Eric, Patel Amanda
机构信息
Institut de Pharmacologie Moléculaire et Cellulaire, Université de Nice Sophia Antipolis, Valbonne, France.
出版信息
Biophys J. 2013 Aug 20;105(4):833-4. doi: 10.1016/j.bpj.2013.07.018.
Abstract
摘要
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Slower Piezo1 inactivation in dehydrated hereditary stomatocytosis (xerocytosis).脱水遗传性口形红细胞增多症（口细胞增多症）中Piezo1失活较慢。
Biophys J. 2013 Aug 20;105(4):833-4. doi: 10.1016/j.bpj.2013.07.018.
2
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。
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Hereditary xerocytosis and familial haemolysis due to mutation in the PIEZO1 gene: a simple diagnostic approach.PIEZO1基因突变导致的遗传性口形红细胞增多症和家族性溶血：一种简单的诊断方法。
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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。
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Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia.一种新型常染色体隐性先天性淋巴管发育不良患者中PIEZO1功能受损。
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Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.先天性红细胞增多症是由改变机械敏感通道 PIEZO1 的动力学的突变引起的。
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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
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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。
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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
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K-Cl cotransporter 1 (KCC1): a housekeeping membrane protein that plays key supplemental roles in hematopoietic and cancer cells.K-Cl 协同转运蛋白 1（KCC1）：一种管家膜蛋白，在造血细胞和癌细胞中发挥关键的辅助作用。
J Hematol Oncol. 2019 Jul 11;12(1):74. doi: 10.1186/s13045-019-0766-x.
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The Function of the Novel Mechanical Activated Ion Channel Piezo1 in the Human Osteosarcoma Cells.新型机械激活离子通道 Piezo1 在人骨肉瘤细胞中的功能。
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Piezo1 protein induces the apoptosis of human osteoarthritis-derived chondrocytes by activating caspase-12, the signaling marker of ER stress.Piezo1蛋白通过激活内质网应激的信号标志物半胱天冬酶-12诱导人骨关节炎来源软骨细胞凋亡。
Int J Mol Med. 2017 Sep;40(3):845-853. doi: 10.3892/ijmm.2017.3075. Epub 2017 Jul 19.
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Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis.红细胞加尔多斯通道（KCNN4）：遗传性干燥细胞增多症中红细胞脱水的关键决定因素。
Haematologica. 2017 Oct;102(10):e415-e418. doi: 10.3324/haematol.2017.171389. Epub 2017 Jun 15.
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PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus.一个患有遗传性高磷脂酰胆碱溶血性贫血和血色素沉着症诱发的糖尿病的日本家族中的PIEZO1基因突变。
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本文引用的文献
1
Human PIEZO1: removing inactivation.人源 PIEZO1：去除失活。
Biophys J. 2013 Aug 20;105(4):880-6. doi: 10.1016/j.bpj.2013.07.019.
2
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.
3
Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.先天性红细胞增多症是由改变机械敏感通道 PIEZO1 的动力学的突变引起的。
Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):E1162-8. doi: 10.1073/pnas.1219777110. Epub 2013 Mar 4.
4
Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.多种脱水遗传性口炎性腹泻的临床形式是由 PIEZO1 突变引起的。
Blood. 2013 May 9;121(19):3925-35, S1-12. doi: 10.1182/blood-2013-02-482489. Epub 2013 Mar 11.
5
Gating the mechanical channel Piezo1: a comparison between whole-cell and patch recording.门控机械通道 Piezo1：全细胞记录与膜片钳记录的比较。
Channels (Austin). 2012 Jul-Aug;6(4):282-9. doi: 10.4161/chan.21064. Epub 2012 Jul 1.
6
Sensing pressure with ion channels.离子通道感知压力。
Trends Neurosci. 2012 Aug;35(8):477-86. doi: 10.1016/j.tins.2012.04.002. Epub 2012 May 22.
7
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.机械转导蛋白 PIEZO1 的突变与遗传性血红细胞增多症有关。
Blood. 2012 Aug 30;120(9):1908-15. doi: 10.1182/blood-2012-04-422253. Epub 2012 Apr 23.
8
Piezo proteins are pore-forming subunits of mechanically activated channels.压电蛋白是机械激活通道的孔形成亚基。
Nature. 2012 Feb 19;483(7388):176-81. doi: 10.1038/nature10812.
9
Piezo1 and Piezo2 are essential components of distinct mechanically activated cation channels.Piezo1 和 Piezo2 是两种截然不同的机械激活阳离子通道的必需组成部分。
Science. 2010 Oct 1;330(6000):55-60. doi: 10.1126/science.1193270. Epub 2010 Sep 2.
10
Ion transport pathology in the mechanism of sickle cell dehydration.镰状细胞脱水机制中的离子转运病理学
Physiol Rev. 2005 Jan;85(1):179-200. doi: 10.1152/physrev.00052.2003.
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