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WNK4激酶在肾脏离子转运中的作用及机制 被引量：2

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摘要 家族性高血钾性高血压（familial hyperkalemic hypertension,FHH）,又称Gordon综合征或Ⅱ型假性低醛固酮血症（pusedohypoaldosteronism typeⅡ,PHAⅡ）,是一种少见的常染色体显性遗传病,临床主要表现为高血压、高血钾、高血氯、低肾素以及代谢性酸中毒。通过对FHH患病家系的连锁分析,发现染色体1、17和12的相关位点与该疾病紧密连锁。
作者 张铁凝 吕晶玉
机构地区 中国医科大学基础医学院遗传学教研室
出处 《中华高血压杂志》 CAS CSCD 北大核心 2015年第3期227-230,共4页 Chinese Journal of Hypertension
关键词 离子转运 HYPERTENSION 常染色体显性遗传病 Gordon综合征 肾脏 激酶 低醛固酮血症 代谢性酸中毒
分类号 R544.1 [医药卫生—心血管疾病]
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参考文献38

  • 1Wilson FH, Disse-Nicodbme S, Choate KA. et al. Human hyper tension caused by mutations in WNK kinases[J]. Science, 2001, 293(5532) : 1107-1112.
  • 2Hoorn EJ, NelsonJH, McCormickJA, et al. The WNK kinase nelwork regulating sodium, potassium, and blood prcssure[J] JASN,2011,22(4):605-614.
  • 3Kahle KT, Wilson FH, I,eng Q, et al. WNK4 regulates the hal ance between renal NaCI reabsorption and K- secretion[J]. Nat Genet,2003,35(4) :372-376.
  • 4Xu B, EnglishJM, Wilsbacher JL, et al. WNK1, a novel mam- rnalian serine/threonine protein kinase lacking the catalytic lysine in subdomainl[J]. J Biol Chem,2000,275(22) : 16795-16801.
  • 5Cope G, Golbang A, O'Shaughnessy KM. WNK kinases and the control of hlood pressure[J]. Pharmacol Ther, 2005,106 (2) : 221-23 I.
  • 6Kahle KT, Gimenez I, Hassan H, et al. WNK4 regulates apical and basolateral Cl flux in extrarenal epithelia[J]. Proc Natl Acad Sci USA, 2004,101(7) ~2064 2069.
  • 7Shibata S, Zhang J, Puthumana J, et a[. Kelch-iike 3 and Cullin 3 regulate electrolyte homeostasis via ubiquitination and degradation of WNK4~J}. Proc Nail Acad Sci USA, 2013, 110(19):7838- 7843.
  • 8Boyden LM, (?hoi M, Choate KA, et al. Mutations in kelch like 3 and cullin 3 cause hypertension and electrolyte ahnormalities[J].Nature,2012,482(7383) :98-102.
  • 9Takahashi D, Mori T, Nomura N, et al. WNK4 is the major WNK kinase positively regulating NCC in the mouse kidney[J]. Biosci Rep,2014,34(3). pii~ e00107.
  • 10Subramanya AR, Ellison DH. Sorting out lysosomal trafficking of the thiazide-sensitive Na-CI co-transporter [J]. J Am Sue Nephrol, 2010,21 (1) : 7-9.

二级参考文献38

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  • 2[3]Xu B,English JM,Wilsbacher JL,et al.WNK1,a novel mammalian serine/threonine protein kinase lacking the catalytic lysine in subdomainⅡ[J].J Biol Chem,2000,275:16795-16801.
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  • 5[6]Urakami-Kojima M,Nakamichi N,Yamashino T,et al.The APRR3 component of the clock-associated APRR1/TOC1 quintet is phosphorylated by a novel protein kinase belonging to the WNK family,the gene for which is also transcribed rhythmically in Arabidopsis Thaliana[J].Plant Cell Physiol,2002,43:675-683.
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中华高血压杂志
2015年 第3期

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