Red blood cell Gardos channel (KCNN4): the essential determinant of erythrocyte dehydration in hereditary xerocytosis.
作者信息
Rapetti-Mauss Raphaël, Picard Véronique, Guitton Corinne, Ghazal Khaldoun, Proulle Valérie, Badens Catherine, Soriani Olivier, Garçon Loïc, Guizouarn Hélène
机构信息
Université Côte d'Azur, CNRS, Inserm, iBV, France.
Univ Paris Sud-Paris Saclay, Faculté de pharmacie, Service d'Hématologie biologique, Hôpital Bicêtre, APHP, Le Kremlin-Bicêtre, France.
出版信息
Haematologica. 2017 Oct;102(10):e415-e418. doi: 10.3324/haematol.2017.171389. Epub 2017 Jun 15.
Abstract
摘要
相似文献
1
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.
2
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.
3
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.
4
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.加尔杜斯通道（KCNN4）的突变与遗传性口形红细胞增多症相关。
Blood. 2015 Sep 10;126(11):1281-4. doi: 10.1182/blood-2015-07-657957. Epub 2015 Jul 21.
5
Clinical and biological features in -hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.遗传性非球形细胞溶血性贫血和 Gardos 通道病的临床和生物学特征：回顾性系列 126 例患者。
Haematologica. 2019 Aug;104(8):1554-1564. doi: 10.3324/haematol.2018.205328. Epub 2019 Jan 17.
6
Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel.司尼卡波：一种治疗由加尔杜斯通道突变引起的遗传性口形红细胞增多症亚型的有力候选药物。
Haematologica. 2016 Nov;101(11):e431-e435. doi: 10.3324/haematol.2016.149104. Epub 2016 Jul 21.
7
A mutation in the Gardos channel is associated with hereditary xerocytosis.Gardos 通道突变与遗传性血影红细胞增多症有关。
Blood. 2015 Sep 10;126(11):1273-80. doi: 10.1182/blood-2015-04-642496. Epub 2015 Jul 6.
8
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).与干燥遗传性口形红细胞增多症（干血质）相关的新型 Gardos 通道突变。
Am J Hematol. 2015 Oct;90(10):921-6. doi: 10.1002/ajh.24117.
9
'Gardos Channelopathy': a variant of hereditary Stomatocytosis with complex molecular regulation.“Gardos 通道病”：一种具有复杂分子调控的遗传性口形红细胞增多症的变异型。
Sci Rep. 2017 May 11;7(1):1744. doi: 10.1038/s41598-017-01591-w.
10
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.
引用本文的文献
1
variant implications for biological understanding and human health.对生物学理解和人类健康的变异影响。
Open Biol. 2025 Jul;15(7):240345. doi: 10.1098/rsob.240345. Epub 2025 Jul 9.
2
Current understanding of eryptosis: mechanisms, physiological functions, role in disease, pharmacological applications, and nomenclature recommendations.红细胞凋亡的当前认识：机制、生理功能、在疾病中的作用、药理学应用及命名建议
Cell Death Dis. 2025 Jul 1;16(1):467. doi: 10.1038/s41419-025-07784-w.
3
Design and structural basis of selective 1,4-dihydropyridine inhibitors of the calcium-activated potassium channel K3.1.钙激活钾通道K3.1的选择性1,4-二氢吡啶抑制剂的设计与结构基础
Proc Natl Acad Sci U S A. 2025 May 6;122(18):e2425494122. doi: 10.1073/pnas.2425494122. Epub 2025 Apr 28.
4
A new regulation mechanism for KCNN4, the Ca-dependent K channel, by molecular interactions with the Capump PMCA4b.一种通过与钙泵PMCA4b进行分子相互作用对钙依赖性钾通道KCNN4的新调控机制。
J Biol Chem. 2025 Feb;301(2):108114. doi: 10.1016/j.jbc.2024.108114. Epub 2024 Dec 21.
5
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.
6
Physical mechanisms of red blood cell splenic filtration.红细胞脾脏过滤的物理机制。
Proc Natl Acad Sci U S A. 2023 Oct 31;120(44):e2300095120. doi: 10.1073/pnas.2300095120. Epub 2023 Oct 24.
7
Pharmacological activation of PIEZO1 in human red blood cells prevents Plasmodium falciparum invasion.激活人红细胞中的 PIEZO1 可预防疟原虫入侵。
Cell Mol Life Sci. 2023 Apr 18;80(5):124. doi: 10.1007/s00018-023-04773-0.
8
New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration.与贫血相关的新型KCNN4变体：无红细胞脱水的口形细胞增多症
Front Physiol. 2022 Aug 8;13:918620. doi: 10.3389/fphys.2022.918620. eCollection 2022.
9
Channelopathy of small- and intermediate-conductance Ca-activated K channels.小电导和中等电导钙激活钾通道的通道病。
Acta Pharmacol Sin. 2023 Feb;44(2):259-267. doi: 10.1038/s41401-022-00935-1. Epub 2022 Jun 17.
10
The Function of Ion Channels and Membrane Potential in Red Blood Cells: Toward a Systematic Analysis of the Erythroid Channelome.红细胞中离子通道和膜电位的功能：迈向对红细胞通道组的系统分析
Front Physiol. 2022 Feb 1;13:824478. doi: 10.3389/fphys.2022.824478. eCollection 2022.
本文引用的文献
1
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.
2
Senicapoc: a potent candidate for the treatment of a subset of hereditary xerocytosis caused by mutations in the Gardos channel.司尼卡波：一种治疗由加尔杜斯通道突变引起的遗传性口形红细胞增多症亚型的有力候选药物。
Haematologica. 2016 Nov;101(11):e431-e435. doi: 10.3324/haematol.2016.149104. Epub 2016 Jul 21.
3
Piezo1 regulates mechanotransductive release of ATP from human RBCs.Piezo1调节人红细胞中ATP的机械转导释放。
Proc Natl Acad Sci U S A. 2015 Sep 22;112(38):11783-8. doi: 10.1073/pnas.1507309112. Epub 2015 Sep 8.
4
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis.加尔杜斯通道（KCNN4）的突变与遗传性口形红细胞增多症相关。
Blood. 2015 Sep 10;126(11):1281-4. doi: 10.1182/blood-2015-07-657957. Epub 2015 Jul 21.
5
Novel Gardos channel mutations linked to dehydrated hereditary stomatocytosis (xerocytosis).与干燥遗传性口形红细胞增多症（干血质）相关的新型 Gardos 通道突变。
Am J Hematol. 2015 Oct;90(10):921-6. doi: 10.1002/ajh.24117.
6
A mutation in the Gardos channel is associated with hereditary xerocytosis.Gardos 通道突变与遗传性血影红细胞增多症有关。
Blood. 2015 Sep 10;126(11):1273-80. doi: 10.1182/blood-2015-04-642496. Epub 2015 Jul 6.
7
Piezo1 links mechanical forces to red blood cell volume.Piezo1将机械力与红细胞体积联系起来。
Elife. 2015 May 22;4:e07370. doi: 10.7554/eLife.07370.
8
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.
9
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.
10
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.
Zotero 插件