A gain of function variant in PIEZO1 (E756del) and sickle cell disease.
作者信息
Rooks Helen, Brewin John, Gardner Kate, Chakravorty Subarna, Menzel Stephan, Hannemann Anke, Gibson John, Rees David C
机构信息
Red Cell Biology Group, King's College Hospital, Denmark Hill, London.
Department of Veterinary Medicine, Cambridge University, UK.
出版信息
Haematologica. 2019 Mar;104(3):e91-e93. doi: 10.3324/haematol.2018.202697. Epub 2018 Sep 20.
Abstract
摘要
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本文引用的文献
1
A common functional PIEZO1 deletion allele associates with red blood cell density in sickle cell disease patients.一种常见的功能性PIEZO1缺失等位基因与镰状细胞病患者的红细胞密度相关。
Am J Hematol. 2018 Nov;93(11):E362-E365. doi: 10.1002/ajh.25245. Epub 2018 Sep 9.
2
Sickle cell dehydration: Pathophysiology and therapeutic applications.镰状细胞脱水：病理生理学与治疗应用
Clin Hemorheol Microcirc. 2018;68(2-3):187-204. doi: 10.3233/CH-189007.
3
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.
4
: a genetic model of fetal hemoglobin in sickle cell disease.镰状细胞病中胎儿血红蛋白的遗传模型。
Blood Adv. 2018 Feb 13;2(3):235-239. doi: 10.1182/bloodadvances.2017009811.
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Disorders of erythrocyte hydration.红细胞水合异常
Blood. 2017 Dec 21;130(25):2699-2708. doi: 10.1182/blood-2017-04-590810. Epub 2017 Oct 19.
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Cation Homeostasis in Red Cells From Patients With Sickle Cell Disease Heterologous for HbS and HbC (HbSC Genotype).镰状细胞病患者红细胞中阳离子稳态的异质性（HbSC 基因型）。
EBioMedicine. 2015 Sep 18;2(11):1669-76. doi: 10.1016/j.ebiom.2015.09.026. eCollection 2015 Nov.
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Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.PIEZO1基因的新型突变导致常染色体隐性全身性淋巴管发育异常并伴有非免疫性胎儿水肿。
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The clinical significance of K-Cl cotransport activity in red cells of patients with HbSC disease.HbSC病患者红细胞中钾氯共转运活性的临床意义。
Haematologica. 2015 May;100(5):595-600. doi: 10.3324/haematol.2014.120402. Epub 2015 Mar 6.
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A non-electrolyte haemolysis assay for diagnosis and prognosis of sickle cell disease.用于镰状细胞病诊断和预后的非电解质溶血检测。
J Physiol. 2013 Mar 15;591(6):1463-74. doi: 10.1113/jphysiol.2012.246579. Epub 2013 Jan 7.
10
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.
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