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Items: 1 to 20 of 134

1.

Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.

Cheng CJ, Lin SH, Lo YF, Yang SS, Hsu YJ, Cannon SC, Huang CL.

J Biol Chem. 2011 Aug 5;286(31):27425-35. doi: 10.1074/jbc.M111.249656. Epub 2011 Jun 10. Erratum in: J Biol Chem. 2011 Sep 23;286(38):33707.

2.

Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Ryan DP, da Silva MR, Soong TW, Fontaine B, Donaldson MR, Kung AW, Jongjaroenprasert W, Liang MC, Khoo DH, Cheah JS, Ho SC, Bernstein HS, Maciel RM, Brown RH Jr, Ptácek LJ.

Cell. 2010 Jan 8;140(1):88-98. doi: 10.1016/j.cell.2009.12.024.

3.

A novel Kir2.6 mutation associated with hypokalemic periodic paralysis.

Zheng J, Liang Z, Hou Y, Liu F, Hu Y, Lin P, Yan C.

Clin Neurophysiol. 2016 Jun;127(6):2503-8. doi: 10.1016/j.clinph.2016.03.008. Epub 2016 Mar 17.

PMID:
27178871
4.

Down-regulation of Kir2.6 channel by c-termini mutation D252N and its association with the susceptibility to Thyrotoxic Periodic Paralysis.

Paninka RM, Carlos-Lima E, Lindsey SC, Kunii IS, Dias-da-Silva MR, Arcisio-Miranda M.

Neuroscience. 2017 Mar 27;346:197-202. doi: 10.1016/j.neuroscience.2017.01.019. Epub 2017 Jan 25.

PMID:
28131627
5.

Mutation screening in Chinese hypokalemic periodic paralysis patients.

Wang W, Jiang L, Ye L, Zhu N, Su T, Guan L, Li X, Ning G.

Mol Genet Metab. 2006 Apr;87(4):359-63. Epub 2006 Jan 4.

PMID:
16386935
6.

Genetic variant rs623011 (17q24.3) associates with non-familial thyrotoxic and sporadic hypokalemic paralysis.

Chu PY, Cheng CJ, Tseng MH, Yang SS, Chen HC, Lin SH.

Clin Chim Acta. 2012 Dec 24;414:105-8. doi: 10.1016/j.cca.2012.08.004. Epub 2012 Aug 15.

PMID:
22910584
7.

The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis.

Li X, Yao S, Xiang Y, Zhang X, Wu X, Luo L, Huang H, Zhu M, Wan H, Hong D.

BMC Neurol. 2015 Mar 21;15:38. doi: 10.1186/s12883-015-0290-8.

8.

Mechanism of thyrotoxic periodic paralysis.

Lin SH, Huang CL.

J Am Soc Nephrol. 2012 Jun;23(6):985-8. doi: 10.1681/ASN.2012010046. Epub 2012 Mar 29. Review.

9.

Absence of ion channels CACN1AS and SCN4A mutations in thyrotoxic hypokalemic periodic paralysis.

Ng WY, Lui KF, Thai AC, Cheah JS.

Thyroid. 2004 Mar;14(3):187-90.

PMID:
15072700
10.

Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.

Paninka RM, Mazzotti DR, Kizys MM, Vidi AC, Rodrigues H, Silva SP, Kunii IS, Furuzawa GK, Arcisio-Miranda M, Dias-da-Silva MR.

Mol Genet Genomics. 2016 Aug;291(4):1535-44. doi: 10.1007/s00438-016-1185-0. Epub 2016 Mar 23.

PMID:
27008341
11.

Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis.

Song IW, Sung CC, Chen CH, Cheng CJ, Yang SS, Chou YC, Yang JH, Chen YT, Wu JY, Lin SH.

Neurology. 2016 Mar 29;86(13):1190-8. doi: 10.1212/WNL.0000000000002524. Epub 2016 Mar 2.

PMID:
26935888
12.

Kir2.6 regulates the surface expression of Kir2.x inward rectifier potassium channels.

Dassau L, Conti LR, Radeke CM, Ptáček LJ, Vandenberg CA.

J Biol Chem. 2011 Mar 18;286(11):9526-41. doi: 10.1074/jbc.M110.170597. Epub 2011 Jan 5.

13.

Rare KCNJ18 variants do not explain hypokalaemic periodic paralysis in 263 unrelated patients.

Kuhn M, Jurkat-Rott K, Lehmann-Horn F.

J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):49-52. doi: 10.1136/jnnp-2014-309293. Epub 2015 Apr 16.

14.

Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.

Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Iaizzo P, Herzog J, Lerche H, Nicole S, Vale-Santos J, Chauveau D, Fontaine B, Lehmann-Horn F.

Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54.

15.

INa and IKir are reduced in Type 1 hypokalemic and thyrotoxic periodic paralysis.

Puwanant A, Ruff RL.

Muscle Nerve. 2010 Sep;42(3):315-27. doi: 10.1002/mus.21693.

PMID:
20589886
16.

Extracellular potassium homeostasis: insights from hypokalemic periodic paralysis.

Cheng CJ, Kuo E, Huang CL.

Semin Nephrol. 2013 May;33(3):237-47. doi: 10.1016/j.semnephrol.2013.04.004. Review.

17.

Mutations linked to familial hypokalaemic periodic paralysis in the calcium channel alpha1 subunit gene (Cav1.1) are not associated with thyrotoxic hypokalaemic periodic paralysis.

Dias da Silva MR, Cerutti JM, Tengan CH, Furuzawa GK, Vieira TC, Gabbai AA, Maciel RM.

Clin Endocrinol (Oxf). 2002 Mar;56(3):367-75.

PMID:
11940049
18.
19.

Expression patterns of two potassium channel genes in skeletal muscle cells of patients with familial hypokalemic periodic paralysis.

Kim JB, Lee GM, Kim SJ, Yoon DH, Lee YH.

Neurol India. 2011 Jul-Aug;59(4):527-31. doi: 10.4103/0028-3886.84331.

20.

A mutation in the KCNE3 potassium channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis.

Dias Da Silva MR, Cerutti JM, Arnaldi LA, Maciel RM.

J Clin Endocrinol Metab. 2002 Nov;87(11):4881-4.

PMID:
12414843

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